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NM_007294.4(BRCA1):c.4903G>A (p.Glu1635Lys) AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
Feb 17, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000509803.12

Allele description [Variation Report for NM_007294.4(BRCA1):c.4903G>A (p.Glu1635Lys)]

NM_007294.4(BRCA1):c.4903G>A (p.Glu1635Lys)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.4903G>A (p.Glu1635Lys)
HGVS:
  • NC_000017.11:g.43071011C>T
  • NG_005905.2:g.146973G>A
  • NM_001407571.1:c.4690G>A
  • NM_001407581.1:c.4969G>A
  • NM_001407582.1:c.4969G>A
  • NM_001407583.1:c.4966G>A
  • NM_001407585.1:c.4966G>A
  • NM_001407587.1:c.4966G>A
  • NM_001407590.1:c.4963G>A
  • NM_001407591.1:c.4963G>A
  • NM_001407593.1:c.4903G>A
  • NM_001407594.1:c.4903G>A
  • NM_001407596.1:c.4903G>A
  • NM_001407597.1:c.4903G>A
  • NM_001407598.1:c.4903G>A
  • NM_001407602.1:c.4903G>A
  • NM_001407603.1:c.4903G>A
  • NM_001407605.1:c.4903G>A
  • NM_001407610.1:c.4900G>A
  • NM_001407611.1:c.4900G>A
  • NM_001407612.1:c.4900G>A
  • NM_001407613.1:c.4900G>A
  • NM_001407614.1:c.4900G>A
  • NM_001407615.1:c.4900G>A
  • NM_001407616.1:c.4900G>A
  • NM_001407617.1:c.4900G>A
  • NM_001407618.1:c.4900G>A
  • NM_001407619.1:c.4900G>A
  • NM_001407620.1:c.4900G>A
  • NM_001407621.1:c.4900G>A
  • NM_001407622.1:c.4900G>A
  • NM_001407623.1:c.4900G>A
  • NM_001407624.1:c.4900G>A
  • NM_001407625.1:c.4900G>A
  • NM_001407626.1:c.4900G>A
  • NM_001407627.1:c.4897G>A
  • NM_001407628.1:c.4897G>A
  • NM_001407629.1:c.4897G>A
  • NM_001407630.1:c.4897G>A
  • NM_001407631.1:c.4897G>A
  • NM_001407632.1:c.4897G>A
  • NM_001407633.1:c.4897G>A
  • NM_001407634.1:c.4897G>A
  • NM_001407635.1:c.4897G>A
  • NM_001407636.1:c.4897G>A
  • NM_001407637.1:c.4897G>A
  • NM_001407638.1:c.4897G>A
  • NM_001407639.1:c.4897G>A
  • NM_001407640.1:c.4897G>A
  • NM_001407641.1:c.4897G>A
  • NM_001407642.1:c.4897G>A
  • NM_001407644.1:c.4894G>A
  • NM_001407645.1:c.4894G>A
  • NM_001407646.1:c.4891G>A
  • NM_001407647.1:c.4888G>A
  • NM_001407648.1:c.4846G>A
  • NM_001407649.1:c.4843G>A
  • NM_001407652.1:c.4903G>A
  • NM_001407653.1:c.4825G>A
  • NM_001407654.1:c.4825G>A
  • NM_001407655.1:c.4825G>A
  • NM_001407656.1:c.4822G>A
  • NM_001407657.1:c.4822G>A
  • NM_001407658.1:c.4822G>A
  • NM_001407659.1:c.4819G>A
  • NM_001407660.1:c.4819G>A
  • NM_001407661.1:c.4819G>A
  • NM_001407662.1:c.4819G>A
  • NM_001407663.1:c.4819G>A
  • NM_001407664.1:c.4780G>A
  • NM_001407665.1:c.4780G>A
  • NM_001407666.1:c.4780G>A
  • NM_001407667.1:c.4780G>A
  • NM_001407668.1:c.4780G>A
  • NM_001407669.1:c.4780G>A
  • NM_001407670.1:c.4777G>A
  • NM_001407671.1:c.4777G>A
  • NM_001407672.1:c.4777G>A
  • NM_001407673.1:c.4777G>A
  • NM_001407674.1:c.4777G>A
  • NM_001407675.1:c.4777G>A
  • NM_001407676.1:c.4777G>A
  • NM_001407677.1:c.4777G>A
  • NM_001407678.1:c.4777G>A
  • NM_001407679.1:c.4777G>A
  • NM_001407680.1:c.4777G>A
  • NM_001407681.1:c.4774G>A
  • NM_001407682.1:c.4774G>A
  • NM_001407683.1:c.4774G>A
  • NM_001407684.1:c.4903G>A
  • NM_001407685.1:c.4774G>A
  • NM_001407686.1:c.4774G>A
  • NM_001407687.1:c.4774G>A
  • NM_001407688.1:c.4774G>A
  • NM_001407689.1:c.4774G>A
  • NM_001407690.1:c.4771G>A
  • NM_001407691.1:c.4771G>A
  • NM_001407692.1:c.4762G>A
  • NM_001407694.1:c.4762G>A
  • NM_001407695.1:c.4762G>A
  • NM_001407696.1:c.4762G>A
  • NM_001407697.1:c.4762G>A
  • NM_001407698.1:c.4762G>A
  • NM_001407724.1:c.4762G>A
  • NM_001407725.1:c.4762G>A
  • NM_001407726.1:c.4762G>A
  • NM_001407727.1:c.4762G>A
  • NM_001407728.1:c.4762G>A
  • NM_001407729.1:c.4762G>A
  • NM_001407730.1:c.4762G>A
  • NM_001407731.1:c.4762G>A
  • NM_001407732.1:c.4759G>A
  • NM_001407733.1:c.4759G>A
  • NM_001407734.1:c.4759G>A
  • NM_001407735.1:c.4759G>A
  • NM_001407736.1:c.4759G>A
  • NM_001407737.1:c.4759G>A
  • NM_001407738.1:c.4759G>A
  • NM_001407739.1:c.4759G>A
  • NM_001407740.1:c.4759G>A
  • NM_001407741.1:c.4759G>A
  • NM_001407742.1:c.4759G>A
  • NM_001407743.1:c.4759G>A
  • NM_001407744.1:c.4759G>A
  • NM_001407745.1:c.4759G>A
  • NM_001407746.1:c.4759G>A
  • NM_001407747.1:c.4759G>A
  • NM_001407748.1:c.4759G>A
  • NM_001407749.1:c.4759G>A
  • NM_001407750.1:c.4759G>A
  • NM_001407751.1:c.4759G>A
  • NM_001407752.1:c.4759G>A
  • NM_001407838.1:c.4756G>A
  • NM_001407839.1:c.4756G>A
  • NM_001407841.1:c.4756G>A
  • NM_001407842.1:c.4756G>A
  • NM_001407843.1:c.4756G>A
  • NM_001407844.1:c.4756G>A
  • NM_001407845.1:c.4756G>A
  • NM_001407846.1:c.4756G>A
  • NM_001407847.1:c.4756G>A
  • NM_001407848.1:c.4756G>A
  • NM_001407849.1:c.4756G>A
  • NM_001407850.1:c.4756G>A
  • NM_001407851.1:c.4756G>A
  • NM_001407852.1:c.4756G>A
  • NM_001407853.1:c.4756G>A
  • NM_001407854.1:c.4903G>A
  • NM_001407858.1:c.4900G>A
  • NM_001407859.1:c.4900G>A
  • NM_001407860.1:c.4900G>A
  • NM_001407861.1:c.4897G>A
  • NM_001407862.1:c.4702G>A
  • NM_001407863.1:c.4777G>A
  • NM_001407874.1:c.4696G>A
  • NM_001407875.1:c.4696G>A
  • NM_001407879.1:c.4693G>A
  • NM_001407881.1:c.4693G>A
  • NM_001407882.1:c.4693G>A
  • NM_001407884.1:c.4693G>A
  • NM_001407885.1:c.4693G>A
  • NM_001407886.1:c.4693G>A
  • NM_001407887.1:c.4693G>A
  • NM_001407889.1:c.4693G>A
  • NM_001407894.1:c.4690G>A
  • NM_001407895.1:c.4690G>A
  • NM_001407896.1:c.4690G>A
  • NM_001407897.1:c.4690G>A
  • NM_001407898.1:c.4690G>A
  • NM_001407899.1:c.4690G>A
  • NM_001407900.1:c.4690G>A
  • NM_001407902.1:c.4690G>A
  • NM_001407904.1:c.4690G>A
  • NM_001407906.1:c.4690G>A
  • NM_001407907.1:c.4690G>A
  • NM_001407908.1:c.4690G>A
  • NM_001407909.1:c.4690G>A
  • NM_001407910.1:c.4690G>A
  • NM_001407915.1:c.4687G>A
  • NM_001407916.1:c.4687G>A
  • NM_001407917.1:c.4687G>A
  • NM_001407918.1:c.4687G>A
  • NM_001407919.1:c.4780G>A
  • NM_001407920.1:c.4639G>A
  • NM_001407921.1:c.4639G>A
  • NM_001407922.1:c.4639G>A
  • NM_001407923.1:c.4639G>A
  • NM_001407924.1:c.4639G>A
  • NM_001407925.1:c.4639G>A
  • NM_001407926.1:c.4639G>A
  • NM_001407927.1:c.4636G>A
  • NM_001407928.1:c.4636G>A
  • NM_001407929.1:c.4636G>A
  • NM_001407930.1:c.4636G>A
  • NM_001407931.1:c.4636G>A
  • NM_001407932.1:c.4636G>A
  • NM_001407933.1:c.4636G>A
  • NM_001407934.1:c.4633G>A
  • NM_001407935.1:c.4633G>A
  • NM_001407936.1:c.4633G>A
  • NM_001407937.1:c.4780G>A
  • NM_001407938.1:c.4780G>A
  • NM_001407939.1:c.4777G>A
  • NM_001407940.1:c.4777G>A
  • NM_001407941.1:c.4774G>A
  • NM_001407942.1:c.4762G>A
  • NM_001407943.1:c.4759G>A
  • NM_001407944.1:c.4759G>A
  • NM_001407945.1:c.4759G>A
  • NM_001407946.1:c.4570G>A
  • NM_001407947.1:c.4570G>A
  • NM_001407948.1:c.4570G>A
  • NM_001407949.1:c.4570G>A
  • NM_001407950.1:c.4567G>A
  • NM_001407951.1:c.4567G>A
  • NM_001407952.1:c.4567G>A
  • NM_001407953.1:c.4567G>A
  • NM_001407954.1:c.4567G>A
  • NM_001407955.1:c.4567G>A
  • NM_001407956.1:c.4564G>A
  • NM_001407957.1:c.4564G>A
  • NM_001407958.1:c.4564G>A
  • NM_001407959.1:c.4522G>A
  • NM_001407960.1:c.4519G>A
  • NM_001407962.1:c.4519G>A
  • NM_001407963.1:c.4516G>A
  • NM_001407964.1:c.4441G>A
  • NM_001407965.1:c.4396G>A
  • NM_001407966.1:c.4015G>A
  • NM_001407967.1:c.4012G>A
  • NM_001407968.1:c.2299G>A
  • NM_001407969.1:c.2296G>A
  • NM_001407970.1:c.1660G>A
  • NM_001407971.1:c.1660G>A
  • NM_001407972.1:c.1657G>A
  • NM_001407973.1:c.1594G>A
  • NM_001407974.1:c.1594G>A
  • NM_001407975.1:c.1594G>A
  • NM_001407976.1:c.1594G>A
  • NM_001407977.1:c.1594G>A
  • NM_001407978.1:c.1594G>A
  • NM_001407979.1:c.1591G>A
  • NM_001407980.1:c.1591G>A
  • NM_001407981.1:c.1591G>A
  • NM_001407982.1:c.1591G>A
  • NM_001407983.1:c.1591G>A
  • NM_001407984.1:c.1591G>A
  • NM_001407985.1:c.1591G>A
  • NM_001407986.1:c.1591G>A
  • NM_001407990.1:c.1591G>A
  • NM_001407991.1:c.1591G>A
  • NM_001407992.1:c.1591G>A
  • NM_001407993.1:c.1591G>A
  • NM_001408392.1:c.1588G>A
  • NM_001408396.1:c.1588G>A
  • NM_001408397.1:c.1588G>A
  • NM_001408398.1:c.1588G>A
  • NM_001408399.1:c.1588G>A
  • NM_001408400.1:c.1588G>A
  • NM_001408401.1:c.1588G>A
  • NM_001408402.1:c.1588G>A
  • NM_001408403.1:c.1588G>A
  • NM_001408404.1:c.1588G>A
  • NM_001408406.1:c.1585G>A
  • NM_001408407.1:c.1585G>A
  • NM_001408408.1:c.1585G>A
  • NM_001408409.1:c.1582G>A
  • NM_001408410.1:c.1519G>A
  • NM_001408411.1:c.1516G>A
  • NM_001408412.1:c.1513G>A
  • NM_001408413.1:c.1513G>A
  • NM_001408414.1:c.1513G>A
  • NM_001408415.1:c.1513G>A
  • NM_001408416.1:c.1513G>A
  • NM_001408418.1:c.1477G>A
  • NM_001408419.1:c.1477G>A
  • NM_001408420.1:c.1477G>A
  • NM_001408421.1:c.1474G>A
  • NM_001408422.1:c.1474G>A
  • NM_001408423.1:c.1474G>A
  • NM_001408424.1:c.1474G>A
  • NM_001408425.1:c.1471G>A
  • NM_001408426.1:c.1471G>A
  • NM_001408427.1:c.1471G>A
  • NM_001408428.1:c.1471G>A
  • NM_001408429.1:c.1471G>A
  • NM_001408430.1:c.1471G>A
  • NM_001408431.1:c.1471G>A
  • NM_001408432.1:c.1468G>A
  • NM_001408433.1:c.1468G>A
  • NM_001408434.1:c.1468G>A
  • NM_001408435.1:c.1468G>A
  • NM_001408436.1:c.1468G>A
  • NM_001408437.1:c.1468G>A
  • NM_001408438.1:c.1468G>A
  • NM_001408439.1:c.1468G>A
  • NM_001408440.1:c.1468G>A
  • NM_001408441.1:c.1468G>A
  • NM_001408442.1:c.1468G>A
  • NM_001408443.1:c.1468G>A
  • NM_001408444.1:c.1468G>A
  • NM_001408445.1:c.1465G>A
  • NM_001408446.1:c.1465G>A
  • NM_001408447.1:c.1465G>A
  • NM_001408448.1:c.1465G>A
  • NM_001408450.1:c.1465G>A
  • NM_001408451.1:c.1459G>A
  • NM_001408452.1:c.1453G>A
  • NM_001408453.1:c.1453G>A
  • NM_001408454.1:c.1453G>A
  • NM_001408455.1:c.1453G>A
  • NM_001408456.1:c.1453G>A
  • NM_001408457.1:c.1453G>A
  • NM_001408458.1:c.1450G>A
  • NM_001408459.1:c.1450G>A
  • NM_001408460.1:c.1450G>A
  • NM_001408461.1:c.1450G>A
  • NM_001408462.1:c.1450G>A
  • NM_001408463.1:c.1450G>A
  • NM_001408464.1:c.1450G>A
  • NM_001408465.1:c.1450G>A
  • NM_001408466.1:c.1450G>A
  • NM_001408467.1:c.1450G>A
  • NM_001408468.1:c.1447G>A
  • NM_001408469.1:c.1447G>A
  • NM_001408470.1:c.1447G>A
  • NM_001408472.1:c.1591G>A
  • NM_001408473.1:c.1588G>A
  • NM_001408474.1:c.1393G>A
  • NM_001408475.1:c.1390G>A
  • NM_001408476.1:c.1390G>A
  • NM_001408478.1:c.1384G>A
  • NM_001408479.1:c.1384G>A
  • NM_001408480.1:c.1384G>A
  • NM_001408481.1:c.1381G>A
  • NM_001408482.1:c.1381G>A
  • NM_001408483.1:c.1381G>A
  • NM_001408484.1:c.1381G>A
  • NM_001408485.1:c.1381G>A
  • NM_001408489.1:c.1381G>A
  • NM_001408490.1:c.1381G>A
  • NM_001408491.1:c.1381G>A
  • NM_001408492.1:c.1378G>A
  • NM_001408493.1:c.1378G>A
  • NM_001408494.1:c.1354G>A
  • NM_001408495.1:c.1348G>A
  • NM_001408496.1:c.1330G>A
  • NM_001408497.1:c.1330G>A
  • NM_001408498.1:c.1330G>A
  • NM_001408499.1:c.1330G>A
  • NM_001408500.1:c.1330G>A
  • NM_001408501.1:c.1330G>A
  • NM_001408502.1:c.1327G>A
  • NM_001408503.1:c.1327G>A
  • NM_001408504.1:c.1327G>A
  • NM_001408505.1:c.1324G>A
  • NM_001408506.1:c.1267G>A
  • NM_001408507.1:c.1264G>A
  • NM_001408508.1:c.1255G>A
  • NM_001408509.1:c.1252G>A
  • NM_001408510.1:c.1213G>A
  • NM_001408511.1:c.1210G>A
  • NM_001408512.1:c.1090G>A
  • NM_001408513.1:c.1063G>A
  • NM_007294.4:c.4903G>AMANE SELECT
  • NM_007297.4:c.4762G>A
  • NM_007298.4:c.1591G>A
  • NM_007299.4:c.1591G>A
  • NM_007300.4:c.4966G>A
  • NM_007304.2:c.1591G>A
  • NP_001394500.1:p.Glu1564Lys
  • NP_001394510.1:p.Glu1657Lys
  • NP_001394511.1:p.Glu1657Lys
  • NP_001394512.1:p.Glu1656Lys
  • NP_001394514.1:p.Glu1656Lys
  • NP_001394516.1:p.Glu1656Lys
  • NP_001394519.1:p.Glu1655Lys
  • NP_001394520.1:p.Glu1655Lys
  • NP_001394522.1:p.Glu1635Lys
  • NP_001394523.1:p.Glu1635Lys
  • NP_001394525.1:p.Glu1635Lys
  • NP_001394526.1:p.Glu1635Lys
  • NP_001394527.1:p.Glu1635Lys
  • NP_001394531.1:p.Glu1635Lys
  • NP_001394532.1:p.Glu1635Lys
  • NP_001394534.1:p.Glu1635Lys
  • NP_001394539.1:p.Glu1634Lys
  • NP_001394540.1:p.Glu1634Lys
  • NP_001394541.1:p.Glu1634Lys
  • NP_001394542.1:p.Glu1634Lys
  • NP_001394543.1:p.Glu1634Lys
  • NP_001394544.1:p.Glu1634Lys
  • NP_001394545.1:p.Glu1634Lys
  • NP_001394546.1:p.Glu1634Lys
  • NP_001394547.1:p.Glu1634Lys
  • NP_001394548.1:p.Glu1634Lys
  • NP_001394549.1:p.Glu1634Lys
  • NP_001394550.1:p.Glu1634Lys
  • NP_001394551.1:p.Glu1634Lys
  • NP_001394552.1:p.Glu1634Lys
  • NP_001394553.1:p.Glu1634Lys
  • NP_001394554.1:p.Glu1634Lys
  • NP_001394555.1:p.Glu1634Lys
  • NP_001394556.1:p.Glu1633Lys
  • NP_001394557.1:p.Glu1633Lys
  • NP_001394558.1:p.Glu1633Lys
  • NP_001394559.1:p.Glu1633Lys
  • NP_001394560.1:p.Glu1633Lys
  • NP_001394561.1:p.Glu1633Lys
  • NP_001394562.1:p.Glu1633Lys
  • NP_001394563.1:p.Glu1633Lys
  • NP_001394564.1:p.Glu1633Lys
  • NP_001394565.1:p.Glu1633Lys
  • NP_001394566.1:p.Glu1633Lys
  • NP_001394567.1:p.Glu1633Lys
  • NP_001394568.1:p.Glu1633Lys
  • NP_001394569.1:p.Glu1633Lys
  • NP_001394570.1:p.Glu1633Lys
  • NP_001394571.1:p.Glu1633Lys
  • NP_001394573.1:p.Glu1632Lys
  • NP_001394574.1:p.Glu1632Lys
  • NP_001394575.1:p.Glu1631Lys
  • NP_001394576.1:p.Glu1630Lys
  • NP_001394577.1:p.Glu1616Lys
  • NP_001394578.1:p.Glu1615Lys
  • NP_001394581.1:p.Glu1635Lys
  • NP_001394582.1:p.Glu1609Lys
  • NP_001394583.1:p.Glu1609Lys
  • NP_001394584.1:p.Glu1609Lys
  • NP_001394585.1:p.Glu1608Lys
  • NP_001394586.1:p.Glu1608Lys
  • NP_001394587.1:p.Glu1608Lys
  • NP_001394588.1:p.Glu1607Lys
  • NP_001394589.1:p.Glu1607Lys
  • NP_001394590.1:p.Glu1607Lys
  • NP_001394591.1:p.Glu1607Lys
  • NP_001394592.1:p.Glu1607Lys
  • NP_001394593.1:p.Glu1594Lys
  • NP_001394594.1:p.Glu1594Lys
  • NP_001394595.1:p.Glu1594Lys
  • NP_001394596.1:p.Glu1594Lys
  • NP_001394597.1:p.Glu1594Lys
  • NP_001394598.1:p.Glu1594Lys
  • NP_001394599.1:p.Glu1593Lys
  • NP_001394600.1:p.Glu1593Lys
  • NP_001394601.1:p.Glu1593Lys
  • NP_001394602.1:p.Glu1593Lys
  • NP_001394603.1:p.Glu1593Lys
  • NP_001394604.1:p.Glu1593Lys
  • NP_001394605.1:p.Glu1593Lys
  • NP_001394606.1:p.Glu1593Lys
  • NP_001394607.1:p.Glu1593Lys
  • NP_001394608.1:p.Glu1593Lys
  • NP_001394609.1:p.Glu1593Lys
  • NP_001394610.1:p.Glu1592Lys
  • NP_001394611.1:p.Glu1592Lys
  • NP_001394612.1:p.Glu1592Lys
  • NP_001394613.1:p.Glu1635Lys
  • NP_001394614.1:p.Glu1592Lys
  • NP_001394615.1:p.Glu1592Lys
  • NP_001394616.1:p.Glu1592Lys
  • NP_001394617.1:p.Glu1592Lys
  • NP_001394618.1:p.Glu1592Lys
  • NP_001394619.1:p.Glu1591Lys
  • NP_001394620.1:p.Glu1591Lys
  • NP_001394621.1:p.Glu1588Lys
  • NP_001394623.1:p.Glu1588Lys
  • NP_001394624.1:p.Glu1588Lys
  • NP_001394625.1:p.Glu1588Lys
  • NP_001394626.1:p.Glu1588Lys
  • NP_001394627.1:p.Glu1588Lys
  • NP_001394653.1:p.Glu1588Lys
  • NP_001394654.1:p.Glu1588Lys
  • NP_001394655.1:p.Glu1588Lys
  • NP_001394656.1:p.Glu1588Lys
  • NP_001394657.1:p.Glu1588Lys
  • NP_001394658.1:p.Glu1588Lys
  • NP_001394659.1:p.Glu1588Lys
  • NP_001394660.1:p.Glu1588Lys
  • NP_001394661.1:p.Glu1587Lys
  • NP_001394662.1:p.Glu1587Lys
  • NP_001394663.1:p.Glu1587Lys
  • NP_001394664.1:p.Glu1587Lys
  • NP_001394665.1:p.Glu1587Lys
  • NP_001394666.1:p.Glu1587Lys
  • NP_001394667.1:p.Glu1587Lys
  • NP_001394668.1:p.Glu1587Lys
  • NP_001394669.1:p.Glu1587Lys
  • NP_001394670.1:p.Glu1587Lys
  • NP_001394671.1:p.Glu1587Lys
  • NP_001394672.1:p.Glu1587Lys
  • NP_001394673.1:p.Glu1587Lys
  • NP_001394674.1:p.Glu1587Lys
  • NP_001394675.1:p.Glu1587Lys
  • NP_001394676.1:p.Glu1587Lys
  • NP_001394677.1:p.Glu1587Lys
  • NP_001394678.1:p.Glu1587Lys
  • NP_001394679.1:p.Glu1587Lys
  • NP_001394680.1:p.Glu1587Lys
  • NP_001394681.1:p.Glu1587Lys
  • NP_001394767.1:p.Glu1586Lys
  • NP_001394768.1:p.Glu1586Lys
  • NP_001394770.1:p.Glu1586Lys
  • NP_001394771.1:p.Glu1586Lys
  • NP_001394772.1:p.Glu1586Lys
  • NP_001394773.1:p.Glu1586Lys
  • NP_001394774.1:p.Glu1586Lys
  • NP_001394775.1:p.Glu1586Lys
  • NP_001394776.1:p.Glu1586Lys
  • NP_001394777.1:p.Glu1586Lys
  • NP_001394778.1:p.Glu1586Lys
  • NP_001394779.1:p.Glu1586Lys
  • NP_001394780.1:p.Glu1586Lys
  • NP_001394781.1:p.Glu1586Lys
  • NP_001394782.1:p.Glu1586Lys
  • NP_001394783.1:p.Glu1635Lys
  • NP_001394787.1:p.Glu1634Lys
  • NP_001394788.1:p.Glu1634Lys
  • NP_001394789.1:p.Glu1634Lys
  • NP_001394790.1:p.Glu1633Lys
  • NP_001394791.1:p.Glu1568Lys
  • NP_001394792.1:p.Glu1593Lys
  • NP_001394803.1:p.Glu1566Lys
  • NP_001394804.1:p.Glu1566Lys
  • NP_001394808.1:p.Glu1565Lys
  • NP_001394810.1:p.Glu1565Lys
  • NP_001394811.1:p.Glu1565Lys
  • NP_001394813.1:p.Glu1565Lys
  • NP_001394814.1:p.Glu1565Lys
  • NP_001394815.1:p.Glu1565Lys
  • NP_001394816.1:p.Glu1565Lys
  • NP_001394818.1:p.Glu1565Lys
  • NP_001394823.1:p.Glu1564Lys
  • NP_001394824.1:p.Glu1564Lys
  • NP_001394825.1:p.Glu1564Lys
  • NP_001394826.1:p.Glu1564Lys
  • NP_001394827.1:p.Glu1564Lys
  • NP_001394828.1:p.Glu1564Lys
  • NP_001394829.1:p.Glu1564Lys
  • NP_001394831.1:p.Glu1564Lys
  • NP_001394833.1:p.Glu1564Lys
  • NP_001394835.1:p.Glu1564Lys
  • NP_001394836.1:p.Glu1564Lys
  • NP_001394837.1:p.Glu1564Lys
  • NP_001394838.1:p.Glu1564Lys
  • NP_001394839.1:p.Glu1564Lys
  • NP_001394844.1:p.Glu1563Lys
  • NP_001394845.1:p.Glu1563Lys
  • NP_001394846.1:p.Glu1563Lys
  • NP_001394847.1:p.Glu1563Lys
  • NP_001394848.1:p.Glu1594Lys
  • NP_001394849.1:p.Glu1547Lys
  • NP_001394850.1:p.Glu1547Lys
  • NP_001394851.1:p.Glu1547Lys
  • NP_001394852.1:p.Glu1547Lys
  • NP_001394853.1:p.Glu1547Lys
  • NP_001394854.1:p.Glu1547Lys
  • NP_001394855.1:p.Glu1547Lys
  • NP_001394856.1:p.Glu1546Lys
  • NP_001394857.1:p.Glu1546Lys
  • NP_001394858.1:p.Glu1546Lys
  • NP_001394859.1:p.Glu1546Lys
  • NP_001394860.1:p.Glu1546Lys
  • NP_001394861.1:p.Glu1546Lys
  • NP_001394862.1:p.Glu1546Lys
  • NP_001394863.1:p.Glu1545Lys
  • NP_001394864.1:p.Glu1545Lys
  • NP_001394865.1:p.Glu1545Lys
  • NP_001394866.1:p.Glu1594Lys
  • NP_001394867.1:p.Glu1594Lys
  • NP_001394868.1:p.Glu1593Lys
  • NP_001394869.1:p.Glu1593Lys
  • NP_001394870.1:p.Glu1592Lys
  • NP_001394871.1:p.Glu1588Lys
  • NP_001394872.1:p.Glu1587Lys
  • NP_001394873.1:p.Glu1587Lys
  • NP_001394874.1:p.Glu1587Lys
  • NP_001394875.1:p.Glu1524Lys
  • NP_001394876.1:p.Glu1524Lys
  • NP_001394877.1:p.Glu1524Lys
  • NP_001394878.1:p.Glu1524Lys
  • NP_001394879.1:p.Glu1523Lys
  • NP_001394880.1:p.Glu1523Lys
  • NP_001394881.1:p.Glu1523Lys
  • NP_001394882.1:p.Glu1523Lys
  • NP_001394883.1:p.Glu1523Lys
  • NP_001394884.1:p.Glu1523Lys
  • NP_001394885.1:p.Glu1522Lys
  • NP_001394886.1:p.Glu1522Lys
  • NP_001394887.1:p.Glu1522Lys
  • NP_001394888.1:p.Glu1508Lys
  • NP_001394889.1:p.Glu1507Lys
  • NP_001394891.1:p.Glu1507Lys
  • NP_001394892.1:p.Glu1506Lys
  • NP_001394893.1:p.Glu1481Lys
  • NP_001394894.1:p.Glu1466Lys
  • NP_001394895.1:p.Glu1339Lys
  • NP_001394896.1:p.Glu1338Lys
  • NP_001394897.1:p.Glu767Lys
  • NP_001394898.1:p.Glu766Lys
  • NP_001394899.1:p.Glu554Lys
  • NP_001394900.1:p.Glu554Lys
  • NP_001394901.1:p.Glu553Lys
  • NP_001394902.1:p.Glu532Lys
  • NP_001394903.1:p.Glu532Lys
  • NP_001394904.1:p.Glu532Lys
  • NP_001394905.1:p.Glu532Lys
  • NP_001394906.1:p.Glu532Lys
  • NP_001394907.1:p.Glu532Lys
  • NP_001394908.1:p.Glu531Lys
  • NP_001394909.1:p.Glu531Lys
  • NP_001394910.1:p.Glu531Lys
  • NP_001394911.1:p.Glu531Lys
  • NP_001394912.1:p.Glu531Lys
  • NP_001394913.1:p.Glu531Lys
  • NP_001394914.1:p.Glu531Lys
  • NP_001394915.1:p.Glu531Lys
  • NP_001394919.1:p.Glu531Lys
  • NP_001394920.1:p.Glu531Lys
  • NP_001394921.1:p.Glu531Lys
  • NP_001394922.1:p.Glu531Lys
  • NP_001395321.1:p.Glu530Lys
  • NP_001395325.1:p.Glu530Lys
  • NP_001395326.1:p.Glu530Lys
  • NP_001395327.1:p.Glu530Lys
  • NP_001395328.1:p.Glu530Lys
  • NP_001395329.1:p.Glu530Lys
  • NP_001395330.1:p.Glu530Lys
  • NP_001395331.1:p.Glu530Lys
  • NP_001395332.1:p.Glu530Lys
  • NP_001395333.1:p.Glu530Lys
  • NP_001395335.1:p.Glu529Lys
  • NP_001395336.1:p.Glu529Lys
  • NP_001395337.1:p.Glu529Lys
  • NP_001395338.1:p.Glu528Lys
  • NP_001395339.1:p.Glu507Lys
  • NP_001395340.1:p.Glu506Lys
  • NP_001395341.1:p.Glu505Lys
  • NP_001395342.1:p.Glu505Lys
  • NP_001395343.1:p.Glu505Lys
  • NP_001395344.1:p.Glu505Lys
  • NP_001395345.1:p.Glu505Lys
  • NP_001395347.1:p.Glu493Lys
  • NP_001395348.1:p.Glu493Lys
  • NP_001395349.1:p.Glu493Lys
  • NP_001395350.1:p.Glu492Lys
  • NP_001395351.1:p.Glu492Lys
  • NP_001395352.1:p.Glu492Lys
  • NP_001395353.1:p.Glu492Lys
  • NP_001395354.1:p.Glu491Lys
  • NP_001395355.1:p.Glu491Lys
  • NP_001395356.1:p.Glu491Lys
  • NP_001395357.1:p.Glu491Lys
  • NP_001395358.1:p.Glu491Lys
  • NP_001395359.1:p.Glu491Lys
  • NP_001395360.1:p.Glu491Lys
  • NP_001395361.1:p.Glu490Lys
  • NP_001395362.1:p.Glu490Lys
  • NP_001395363.1:p.Glu490Lys
  • NP_001395364.1:p.Glu490Lys
  • NP_001395365.1:p.Glu490Lys
  • NP_001395366.1:p.Glu490Lys
  • NP_001395367.1:p.Glu490Lys
  • NP_001395368.1:p.Glu490Lys
  • NP_001395369.1:p.Glu490Lys
  • NP_001395370.1:p.Glu490Lys
  • NP_001395371.1:p.Glu490Lys
  • NP_001395372.1:p.Glu490Lys
  • NP_001395373.1:p.Glu490Lys
  • NP_001395374.1:p.Glu489Lys
  • NP_001395375.1:p.Glu489Lys
  • NP_001395376.1:p.Glu489Lys
  • NP_001395377.1:p.Glu489Lys
  • NP_001395379.1:p.Glu489Lys
  • NP_001395380.1:p.Glu487Lys
  • NP_001395381.1:p.Glu485Lys
  • NP_001395382.1:p.Glu485Lys
  • NP_001395383.1:p.Glu485Lys
  • NP_001395384.1:p.Glu485Lys
  • NP_001395385.1:p.Glu485Lys
  • NP_001395386.1:p.Glu485Lys
  • NP_001395387.1:p.Glu484Lys
  • NP_001395388.1:p.Glu484Lys
  • NP_001395389.1:p.Glu484Lys
  • NP_001395390.1:p.Glu484Lys
  • NP_001395391.1:p.Glu484Lys
  • NP_001395392.1:p.Glu484Lys
  • NP_001395393.1:p.Glu484Lys
  • NP_001395394.1:p.Glu484Lys
  • NP_001395395.1:p.Glu484Lys
  • NP_001395396.1:p.Glu484Lys
  • NP_001395397.1:p.Glu483Lys
  • NP_001395398.1:p.Glu483Lys
  • NP_001395399.1:p.Glu483Lys
  • NP_001395401.1:p.Glu531Lys
  • NP_001395402.1:p.Glu530Lys
  • NP_001395403.1:p.Glu465Lys
  • NP_001395404.1:p.Glu464Lys
  • NP_001395405.1:p.Glu464Lys
  • NP_001395407.1:p.Glu462Lys
  • NP_001395408.1:p.Glu462Lys
  • NP_001395409.1:p.Glu462Lys
  • NP_001395410.1:p.Glu461Lys
  • NP_001395411.1:p.Glu461Lys
  • NP_001395412.1:p.Glu461Lys
  • NP_001395413.1:p.Glu461Lys
  • NP_001395414.1:p.Glu461Lys
  • NP_001395418.1:p.Glu461Lys
  • NP_001395419.1:p.Glu461Lys
  • NP_001395420.1:p.Glu461Lys
  • NP_001395421.1:p.Glu460Lys
  • NP_001395422.1:p.Glu460Lys
  • NP_001395423.1:p.Glu452Lys
  • NP_001395424.1:p.Glu450Lys
  • NP_001395425.1:p.Glu444Lys
  • NP_001395426.1:p.Glu444Lys
  • NP_001395427.1:p.Glu444Lys
  • NP_001395428.1:p.Glu444Lys
  • NP_001395429.1:p.Glu444Lys
  • NP_001395430.1:p.Glu444Lys
  • NP_001395431.1:p.Glu443Lys
  • NP_001395432.1:p.Glu443Lys
  • NP_001395433.1:p.Glu443Lys
  • NP_001395434.1:p.Glu442Lys
  • NP_001395435.1:p.Glu423Lys
  • NP_001395436.1:p.Glu422Lys
  • NP_001395437.1:p.Glu419Lys
  • NP_001395438.1:p.Glu418Lys
  • NP_001395439.1:p.Glu405Lys
  • NP_001395440.1:p.Glu404Lys
  • NP_001395441.1:p.Glu364Lys
  • NP_001395442.1:p.Glu355Lys
  • NP_009225.1:p.Glu1635Lys
  • NP_009225.1:p.Glu1635Lys
  • NP_009228.2:p.Glu1588Lys
  • NP_009229.2:p.Glu531Lys
  • NP_009229.2:p.Glu531Lys
  • NP_009230.2:p.Glu531Lys
  • NP_009231.2:p.Glu1656Lys
  • NP_009235.2:p.Glu531Lys
  • LRG_292t1:c.4903G>A
  • LRG_292:g.146973G>A
  • LRG_292p1:p.Glu1635Lys
  • NC_000017.10:g.41223028C>T
  • NM_007294.3:c.4903G>A
  • NM_007298.3:c.1591G>A
  • NR_027676.2:n.5080G>A
Protein change:
E1338K
Links:
dbSNP: rs200432771
NCBI 1000 Genomes Browser:
rs200432771
Molecular consequence:
  • NM_001407571.1:c.4690G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.4969G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.4969G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.4966G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.4966G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.4966G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.4963G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.4963G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.4903G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.4903G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.4903G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.4903G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.4903G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.4903G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.4903G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.4903G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.4900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.4900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.4900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.4900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.4900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.4900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.4900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.4900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.4900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.4900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.4900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.4900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.4900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.4900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.4900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.4900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.4900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.4897G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.4897G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.4897G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.4897G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.4897G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.4897G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.4897G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.4897G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.4897G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.4897G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.4897G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.4897G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.4897G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.4897G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.4897G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.4897G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.4894G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.4894G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.4891G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.4888G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.4846G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.4843G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.4903G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.4825G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.4825G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.4825G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.4822G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.4822G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.4822G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.4819G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.4819G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.4819G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.4819G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.4819G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.4780G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.4780G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.4780G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.4780G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.4780G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.4780G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.4777G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.4777G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.4777G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.4777G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.4777G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.4777G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.4777G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.4777G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.4777G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.4777G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.4777G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.4774G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.4774G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.4774G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.4903G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.4774G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.4774G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.4774G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.4774G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.4774G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.4771G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.4771G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.4762G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.4762G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.4762G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.4762G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.4762G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.4762G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.4762G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.4762G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.4762G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.4762G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.4762G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.4762G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.4762G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.4762G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.4759G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.4759G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.4759G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.4759G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.4759G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.4759G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.4759G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.4759G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.4759G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.4759G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.4759G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.4759G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.4759G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.4759G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.4759G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.4759G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.4759G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.4759G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.4759G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.4759G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.4759G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.4756G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.4756G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.4756G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.4756G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.4756G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.4756G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.4756G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.4756G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.4756G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.4756G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.4756G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.4756G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.4756G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.4756G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.4756G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.4903G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.4900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.4900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.4900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.4897G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.4702G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.4777G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.4696G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.4696G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.4693G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.4693G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.4693G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.4693G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.4693G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.4693G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.4693G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.4693G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.4690G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.4690G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.4690G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.4690G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.4690G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.4690G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.4690G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.4690G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.4690G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.4690G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.4690G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.4690G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.4690G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.4690G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.4687G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.4687G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.4687G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.4687G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.4780G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.4639G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.4639G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.4639G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.4639G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.4639G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.4639G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.4639G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.4636G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.4636G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.4636G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.4636G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.4636G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.4636G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.4636G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.4633G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.4633G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.4633G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.4780G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.4780G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.4777G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.4777G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.4774G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.4762G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.4759G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.4759G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.4759G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.4570G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.4570G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.4570G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.4570G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.4567G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.4567G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.4567G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.4567G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.4567G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.4567G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.4564G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.4564G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.4564G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.4522G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.4519G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.4519G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.4516G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.4441G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.4396G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.4015G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.4012G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.2299G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.2296G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.1660G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.1660G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.1657G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.1594G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.1594G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.1594G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.1594G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.1594G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.1594G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.1591G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.1591G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.1591G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.1591G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.1591G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.1591G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.1591G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.1591G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.1591G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.1591G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.1591G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.1591G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.1588G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.1588G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.1588G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.1588G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.1588G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.1588G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.1588G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.1588G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.1588G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.1588G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.1585G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.1585G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.1585G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.1582G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408410.1:c.1519G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.1516G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.1513G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.1513G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.1513G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.1513G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.1513G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.1477G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.1477G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.1477G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.1474G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.1474G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.1474G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.1474G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.1471G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.1471G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.1471G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.1471G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.1471G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.1471G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.1471G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.1468G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.1468G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.1468G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.1468G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.1468G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.1468G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.1468G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.1468G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.1468G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.1468G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.1468G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.1468G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.1468G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.1465G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.1465G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.1465G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.1465G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.1465G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408451.1:c.1459G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408452.1:c.1453G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408453.1:c.1453G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408454.1:c.1453G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408455.1:c.1453G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408456.1:c.1453G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408457.1:c.1453G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408458.1:c.1450G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408459.1:c.1450G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408460.1:c.1450G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408461.1:c.1450G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408462.1:c.1450G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408463.1:c.1450G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408464.1:c.1450G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408465.1:c.1450G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408466.1:c.1450G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408467.1:c.1450G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408468.1:c.1447G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408469.1:c.1447G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408470.1:c.1447G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408472.1:c.1591G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408473.1:c.1588G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.1393G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.1390G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.1390G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408478.1:c.1384G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408479.1:c.1384G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408480.1:c.1384G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408481.1:c.1381G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408482.1:c.1381G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408483.1:c.1381G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408484.1:c.1381G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408485.1:c.1381G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408489.1:c.1381G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408490.1:c.1381G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408491.1:c.1381G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408492.1:c.1378G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408493.1:c.1378G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.1354G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.1348G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408496.1:c.1330G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408497.1:c.1330G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408498.1:c.1330G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408499.1:c.1330G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408500.1:c.1330G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408501.1:c.1330G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408502.1:c.1327G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408503.1:c.1327G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408504.1:c.1327G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408505.1:c.1324G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408506.1:c.1267G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408507.1:c.1264G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408508.1:c.1255G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408509.1:c.1252G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408510.1:c.1213G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408511.1:c.1210G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408512.1:c.1090G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408513.1:c.1063G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.4903G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.4762G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.1591G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.1591G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.4966G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.1591G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.5080G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Functional consequence:
functionally_normal [Sequence Ontology: SO:0002219] - Comment(s)

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000608213Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Feb 17, 2021) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.

Johnston JJ, Rubinstein WS, Facio FM, Ng D, Singh LN, Teer JK, Mullikin JC, Biesecker LG.

Am J Hum Genet. 2012 Jul 13;91(1):97-108. doi: 10.1016/j.ajhg.2012.05.021. Epub 2012 Jun 14.

PubMed [citation]
PMID:
22703879
PMCID:
PMC3397257

Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel.

Tung N, Battelli C, Allen B, Kaldate R, Bhatnagar S, Bowles K, Timms K, Garber JE, Herold C, Ellisen L, Krejdovsky J, DeLeonardis K, Sedgwick K, Soltis K, Roa B, Wenstrup RJ, Hartman AR.

Cancer. 2015 Jan 1;121(1):25-33. doi: 10.1002/cncr.29010. Epub 2014 Sep 3.

PubMed [citation]
PMID:
25186627
See all PubMed Citations (4)

Details of each submission

From Ambry Genetics, SCV000608213.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 24, 2024