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NM_007294.4(BRCA1):c.1397G>A (p.Arg466Gln) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:
Uncertain significance (3 submissions)
Last evaluated:
Nov 17, 2015
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:
RCV000077069.7

Allele description [Variation Report for NM_007294.4(BRCA1):c.1397G>A (p.Arg466Gln)]

NM_007294.4(BRCA1):c.1397G>A (p.Arg466Gln)

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.1397G>A (p.Arg466Gln)
Other names:
p.R466Q:CGG>CAG
HGVS:
  • NC_000017.11:g.43094134C>T
  • NG_005905.2:g.123850G>A
  • NM_001407571.1:c.1184G>A
  • NM_001407581.1:c.1397G>A
  • NM_001407582.1:c.1397G>A
  • NM_001407583.1:c.1397G>A
  • NM_001407585.1:c.1397G>A
  • NM_001407587.1:c.1394G>A
  • NM_001407590.1:c.1394G>A
  • NM_001407591.1:c.1394G>A
  • NM_001407593.1:c.1397G>A
  • NM_001407594.1:c.1397G>A
  • NM_001407596.1:c.1397G>A
  • NM_001407597.1:c.1397G>A
  • NM_001407598.1:c.1397G>A
  • NM_001407602.1:c.1397G>A
  • NM_001407603.1:c.1397G>A
  • NM_001407605.1:c.1397G>A
  • NM_001407610.1:c.1394G>A
  • NM_001407611.1:c.1394G>A
  • NM_001407612.1:c.1394G>A
  • NM_001407613.1:c.1394G>A
  • NM_001407614.1:c.1394G>A
  • NM_001407615.1:c.1394G>A
  • NM_001407616.1:c.1397G>A
  • NM_001407617.1:c.1397G>A
  • NM_001407618.1:c.1397G>A
  • NM_001407619.1:c.1397G>A
  • NM_001407620.1:c.1397G>A
  • NM_001407621.1:c.1397G>A
  • NM_001407622.1:c.1397G>A
  • NM_001407623.1:c.1397G>A
  • NM_001407624.1:c.1397G>A
  • NM_001407625.1:c.1397G>A
  • NM_001407626.1:c.1397G>A
  • NM_001407627.1:c.1394G>A
  • NM_001407628.1:c.1394G>A
  • NM_001407629.1:c.1394G>A
  • NM_001407630.1:c.1394G>A
  • NM_001407631.1:c.1394G>A
  • NM_001407632.1:c.1394G>A
  • NM_001407633.1:c.1394G>A
  • NM_001407634.1:c.1394G>A
  • NM_001407635.1:c.1394G>A
  • NM_001407636.1:c.1394G>A
  • NM_001407637.1:c.1394G>A
  • NM_001407638.1:c.1394G>A
  • NM_001407639.1:c.1397G>A
  • NM_001407640.1:c.1397G>A
  • NM_001407641.1:c.1397G>A
  • NM_001407642.1:c.1397G>A
  • NM_001407644.1:c.1394G>A
  • NM_001407645.1:c.1394G>A
  • NM_001407646.1:c.1388G>A
  • NM_001407647.1:c.1388G>A
  • NM_001407648.1:c.1274G>A
  • NM_001407649.1:c.1271G>A
  • NM_001407652.1:c.1397G>A
  • NM_001407653.1:c.1319G>A
  • NM_001407654.1:c.1319G>A
  • NM_001407655.1:c.1319G>A
  • NM_001407656.1:c.1319G>A
  • NM_001407657.1:c.1319G>A
  • NM_001407658.1:c.1319G>A
  • NM_001407659.1:c.1316G>A
  • NM_001407660.1:c.1316G>A
  • NM_001407661.1:c.1316G>A
  • NM_001407662.1:c.1316G>A
  • NM_001407663.1:c.1319G>A
  • NM_001407664.1:c.1274G>A
  • NM_001407665.1:c.1274G>A
  • NM_001407666.1:c.1274G>A
  • NM_001407667.1:c.1274G>A
  • NM_001407668.1:c.1274G>A
  • NM_001407669.1:c.1274G>A
  • NM_001407670.1:c.1271G>A
  • NM_001407671.1:c.1271G>A
  • NM_001407672.1:c.1271G>A
  • NM_001407673.1:c.1271G>A
  • NM_001407674.1:c.1274G>A
  • NM_001407675.1:c.1274G>A
  • NM_001407676.1:c.1274G>A
  • NM_001407677.1:c.1274G>A
  • NM_001407678.1:c.1274G>A
  • NM_001407679.1:c.1274G>A
  • NM_001407680.1:c.1274G>A
  • NM_001407681.1:c.1274G>A
  • NM_001407682.1:c.1274G>A
  • NM_001407683.1:c.1274G>A
  • NM_001407684.1:c.1397G>A
  • NM_001407685.1:c.1271G>A
  • NM_001407686.1:c.1271G>A
  • NM_001407687.1:c.1271G>A
  • NM_001407688.1:c.1271G>A
  • NM_001407689.1:c.1271G>A
  • NM_001407690.1:c.1271G>A
  • NM_001407691.1:c.1271G>A
  • NM_001407692.1:c.1256G>A
  • NM_001407694.1:c.1256G>A
  • NM_001407695.1:c.1256G>A
  • NM_001407696.1:c.1256G>A
  • NM_001407697.1:c.1256G>A
  • NM_001407698.1:c.1256G>A
  • NM_001407724.1:c.1256G>A
  • NM_001407725.1:c.1256G>A
  • NM_001407726.1:c.1256G>A
  • NM_001407727.1:c.1256G>A
  • NM_001407728.1:c.1256G>A
  • NM_001407729.1:c.1256G>A
  • NM_001407730.1:c.1256G>A
  • NM_001407731.1:c.1256G>A
  • NM_001407732.1:c.1256G>A
  • NM_001407733.1:c.1256G>A
  • NM_001407734.1:c.1256G>A
  • NM_001407735.1:c.1256G>A
  • NM_001407736.1:c.1256G>A
  • NM_001407737.1:c.1256G>A
  • NM_001407738.1:c.1256G>A
  • NM_001407739.1:c.1256G>A
  • NM_001407740.1:c.1253G>A
  • NM_001407741.1:c.1253G>A
  • NM_001407742.1:c.1253G>A
  • NM_001407743.1:c.1253G>A
  • NM_001407744.1:c.1253G>A
  • NM_001407745.1:c.1253G>A
  • NM_001407746.1:c.1253G>A
  • NM_001407747.1:c.1253G>A
  • NM_001407748.1:c.1253G>A
  • NM_001407749.1:c.1253G>A
  • NM_001407750.1:c.1256G>A
  • NM_001407751.1:c.1256G>A
  • NM_001407752.1:c.1256G>A
  • NM_001407838.1:c.1253G>A
  • NM_001407839.1:c.1253G>A
  • NM_001407841.1:c.1253G>A
  • NM_001407842.1:c.1253G>A
  • NM_001407843.1:c.1253G>A
  • NM_001407844.1:c.1253G>A
  • NM_001407845.1:c.1253G>A
  • NM_001407846.1:c.1253G>A
  • NM_001407847.1:c.1253G>A
  • NM_001407848.1:c.1253G>A
  • NM_001407849.1:c.1253G>A
  • NM_001407850.1:c.1256G>A
  • NM_001407851.1:c.1256G>A
  • NM_001407852.1:c.1256G>A
  • NM_001407853.1:c.1184G>A
  • NM_001407854.1:c.1397G>A
  • NM_001407858.1:c.1397G>A
  • NM_001407859.1:c.1397G>A
  • NM_001407860.1:c.1394G>A
  • NM_001407861.1:c.1394G>A
  • NM_001407862.1:c.1196G>A
  • NM_001407863.1:c.1274G>A
  • NM_001407874.1:c.1193G>A
  • NM_001407875.1:c.1193G>A
  • NM_001407879.1:c.1187G>A
  • NM_001407881.1:c.1187G>A
  • NM_001407882.1:c.1187G>A
  • NM_001407884.1:c.1187G>A
  • NM_001407885.1:c.1187G>A
  • NM_001407886.1:c.1187G>A
  • NM_001407887.1:c.1187G>A
  • NM_001407889.1:c.1187G>A
  • NM_001407894.1:c.1184G>A
  • NM_001407895.1:c.1184G>A
  • NM_001407896.1:c.1184G>A
  • NM_001407897.1:c.1184G>A
  • NM_001407898.1:c.1184G>A
  • NM_001407899.1:c.1184G>A
  • NM_001407900.1:c.1187G>A
  • NM_001407902.1:c.1187G>A
  • NM_001407904.1:c.1187G>A
  • NM_001407906.1:c.1187G>A
  • NM_001407907.1:c.1187G>A
  • NM_001407908.1:c.1187G>A
  • NM_001407909.1:c.1187G>A
  • NM_001407910.1:c.1187G>A
  • NM_001407915.1:c.1184G>A
  • NM_001407916.1:c.1184G>A
  • NM_001407917.1:c.1184G>A
  • NM_001407918.1:c.1184G>A
  • NM_001407919.1:c.1274G>A
  • NM_001407920.1:c.1133G>A
  • NM_001407921.1:c.1133G>A
  • NM_001407922.1:c.1133G>A
  • NM_001407923.1:c.1133G>A
  • NM_001407924.1:c.1133G>A
  • NM_001407925.1:c.1133G>A
  • NM_001407926.1:c.1133G>A
  • NM_001407927.1:c.1133G>A
  • NM_001407928.1:c.1133G>A
  • NM_001407929.1:c.1133G>A
  • NM_001407930.1:c.1130G>A
  • NM_001407931.1:c.1130G>A
  • NM_001407932.1:c.1130G>A
  • NM_001407933.1:c.1133G>A
  • NM_001407934.1:c.1130G>A
  • NM_001407935.1:c.1133G>A
  • NM_001407936.1:c.1130G>A
  • NM_001407937.1:c.1274G>A
  • NM_001407938.1:c.1274G>A
  • NM_001407939.1:c.1274G>A
  • NM_001407940.1:c.1271G>A
  • NM_001407941.1:c.1271G>A
  • NM_001407942.1:c.1256G>A
  • NM_001407943.1:c.1253G>A
  • NM_001407944.1:c.1256G>A
  • NM_001407945.1:c.1256G>A
  • NM_001407946.1:c.1064G>A
  • NM_001407947.1:c.1064G>A
  • NM_001407948.1:c.1064G>A
  • NM_001407949.1:c.1064G>A
  • NM_001407950.1:c.1064G>A
  • NM_001407951.1:c.1064G>A
  • NM_001407952.1:c.1064G>A
  • NM_001407953.1:c.1064G>A
  • NM_001407954.1:c.1061G>A
  • NM_001407955.1:c.1061G>A
  • NM_001407956.1:c.1061G>A
  • NM_001407957.1:c.1064G>A
  • NM_001407958.1:c.1061G>A
  • NM_001407959.1:c.1016G>A
  • NM_001407960.1:c.1016G>A
  • NM_001407962.1:c.1013G>A
  • NM_001407963.1:c.1016G>A
  • NM_001407964.1:c.1253G>A
  • NM_001407965.1:c.893G>A
  • NM_001407966.1:c.509G>A
  • NM_001407967.1:c.509G>A
  • NM_001407968.1:c.787+610G>A
  • NM_001407969.1:c.787+610G>A
  • NM_001407970.1:c.787+610G>A
  • NM_001407971.1:c.787+610G>A
  • NM_001407972.1:c.784+610G>A
  • NM_001407973.1:c.787+610G>A
  • NM_001407974.1:c.787+610G>A
  • NM_001407975.1:c.787+610G>A
  • NM_001407976.1:c.787+610G>A
  • NM_001407977.1:c.787+610G>A
  • NM_001407978.1:c.787+610G>A
  • NM_001407979.1:c.787+610G>A
  • NM_001407980.1:c.787+610G>A
  • NM_001407981.1:c.787+610G>A
  • NM_001407982.1:c.787+610G>A
  • NM_001407983.1:c.787+610G>A
  • NM_001407984.1:c.784+610G>A
  • NM_001407985.1:c.784+610G>A
  • NM_001407986.1:c.784+610G>A
  • NM_001407990.1:c.787+610G>A
  • NM_001407991.1:c.784+610G>A
  • NM_001407992.1:c.784+610G>A
  • NM_001407993.1:c.787+610G>A
  • NM_001408392.1:c.784+610G>A
  • NM_001408396.1:c.784+610G>A
  • NM_001408397.1:c.784+610G>A
  • NM_001408398.1:c.784+610G>A
  • NM_001408399.1:c.784+610G>A
  • NM_001408400.1:c.784+610G>A
  • NM_001408401.1:c.784+610G>A
  • NM_001408402.1:c.784+610G>A
  • NM_001408403.1:c.787+610G>A
  • NM_001408404.1:c.787+610G>A
  • NM_001408406.1:c.790+607G>A
  • NM_001408407.1:c.784+610G>A
  • NM_001408408.1:c.778+610G>A
  • NM_001408409.1:c.709+610G>A
  • NM_001408410.1:c.646+610G>A
  • NM_001408411.1:c.709+610G>A
  • NM_001408412.1:c.709+610G>A
  • NM_001408413.1:c.706+610G>A
  • NM_001408414.1:c.709+610G>A
  • NM_001408415.1:c.709+610G>A
  • NM_001408416.1:c.706+610G>A
  • NM_001408418.1:c.670+1712G>A
  • NM_001408419.1:c.670+1712G>A
  • NM_001408420.1:c.670+1712G>A
  • NM_001408421.1:c.667+1712G>A
  • NM_001408422.1:c.670+1712G>A
  • NM_001408423.1:c.670+1712G>A
  • NM_001408424.1:c.667+1712G>A
  • NM_001408425.1:c.664+610G>A
  • NM_001408426.1:c.664+610G>A
  • NM_001408427.1:c.664+610G>A
  • NM_001408428.1:c.664+610G>A
  • NM_001408429.1:c.664+610G>A
  • NM_001408430.1:c.664+610G>A
  • NM_001408431.1:c.667+1712G>A
  • NM_001408432.1:c.661+610G>A
  • NM_001408433.1:c.661+610G>A
  • NM_001408434.1:c.661+610G>A
  • NM_001408435.1:c.661+610G>A
  • NM_001408436.1:c.664+610G>A
  • NM_001408437.1:c.664+610G>A
  • NM_001408438.1:c.664+610G>A
  • NM_001408439.1:c.664+610G>A
  • NM_001408440.1:c.664+610G>A
  • NM_001408441.1:c.664+610G>A
  • NM_001408442.1:c.664+610G>A
  • NM_001408443.1:c.664+610G>A
  • NM_001408444.1:c.664+610G>A
  • NM_001408445.1:c.661+610G>A
  • NM_001408446.1:c.661+610G>A
  • NM_001408447.1:c.661+610G>A
  • NM_001408448.1:c.661+610G>A
  • NM_001408450.1:c.661+610G>A
  • NM_001408451.1:c.652+610G>A
  • NM_001408452.1:c.646+610G>A
  • NM_001408453.1:c.646+610G>A
  • NM_001408454.1:c.646+610G>A
  • NM_001408455.1:c.646+610G>A
  • NM_001408456.1:c.646+610G>A
  • NM_001408457.1:c.646+610G>A
  • NM_001408458.1:c.646+610G>A
  • NM_001408459.1:c.646+610G>A
  • NM_001408460.1:c.646+610G>A
  • NM_001408461.1:c.646+610G>A
  • NM_001408462.1:c.643+610G>A
  • NM_001408463.1:c.643+610G>A
  • NM_001408464.1:c.643+610G>A
  • NM_001408465.1:c.643+610G>A
  • NM_001408466.1:c.646+610G>A
  • NM_001408467.1:c.646+610G>A
  • NM_001408468.1:c.643+610G>A
  • NM_001408469.1:c.646+610G>A
  • NM_001408470.1:c.643+610G>A
  • NM_001408472.1:c.787+610G>A
  • NM_001408473.1:c.784+610G>A
  • NM_001408474.1:c.586+610G>A
  • NM_001408475.1:c.583+610G>A
  • NM_001408476.1:c.586+610G>A
  • NM_001408478.1:c.577+610G>A
  • NM_001408479.1:c.577+610G>A
  • NM_001408480.1:c.577+610G>A
  • NM_001408481.1:c.577+610G>A
  • NM_001408482.1:c.577+610G>A
  • NM_001408483.1:c.577+610G>A
  • NM_001408484.1:c.577+610G>A
  • NM_001408485.1:c.577+610G>A
  • NM_001408489.1:c.577+610G>A
  • NM_001408490.1:c.574+610G>A
  • NM_001408491.1:c.574+610G>A
  • NM_001408492.1:c.577+610G>A
  • NM_001408493.1:c.574+610G>A
  • NM_001408494.1:c.548-3102G>A
  • NM_001408495.1:c.545-3102G>A
  • NM_001408496.1:c.523+610G>A
  • NM_001408497.1:c.523+610G>A
  • NM_001408498.1:c.523+610G>A
  • NM_001408499.1:c.523+610G>A
  • NM_001408500.1:c.523+610G>A
  • NM_001408501.1:c.523+610G>A
  • NM_001408502.1:c.454+610G>A
  • NM_001408503.1:c.520+610G>A
  • NM_001408504.1:c.520+610G>A
  • NM_001408505.1:c.520+610G>A
  • NM_001408506.1:c.460+1712G>A
  • NM_001408507.1:c.460+1712G>A
  • NM_001408508.1:c.451+610G>A
  • NM_001408509.1:c.451+610G>A
  • NM_001408510.1:c.406+610G>A
  • NM_001408511.1:c.404-3102G>A
  • NM_001408512.1:c.283+610G>A
  • NM_001408513.1:c.577+610G>A
  • NM_001408514.1:c.577+610G>A
  • NM_007294.4:c.1397G>AMANE SELECT
  • NM_007297.4:c.1256G>A
  • NM_007298.4:c.787+610G>A
  • NM_007299.4:c.787+610G>A
  • NM_007300.4:c.1397G>A
  • NP_001394500.1:p.Arg395Gln
  • NP_001394510.1:p.Arg466Gln
  • NP_001394511.1:p.Arg466Gln
  • NP_001394512.1:p.Arg466Gln
  • NP_001394514.1:p.Arg466Gln
  • NP_001394516.1:p.Arg465Gln
  • NP_001394519.1:p.Arg465Gln
  • NP_001394520.1:p.Arg465Gln
  • NP_001394522.1:p.Arg466Gln
  • NP_001394523.1:p.Arg466Gln
  • NP_001394525.1:p.Arg466Gln
  • NP_001394526.1:p.Arg466Gln
  • NP_001394527.1:p.Arg466Gln
  • NP_001394531.1:p.Arg466Gln
  • NP_001394532.1:p.Arg466Gln
  • NP_001394534.1:p.Arg466Gln
  • NP_001394539.1:p.Arg465Gln
  • NP_001394540.1:p.Arg465Gln
  • NP_001394541.1:p.Arg465Gln
  • NP_001394542.1:p.Arg465Gln
  • NP_001394543.1:p.Arg465Gln
  • NP_001394544.1:p.Arg465Gln
  • NP_001394545.1:p.Arg466Gln
  • NP_001394546.1:p.Arg466Gln
  • NP_001394547.1:p.Arg466Gln
  • NP_001394548.1:p.Arg466Gln
  • NP_001394549.1:p.Arg466Gln
  • NP_001394550.1:p.Arg466Gln
  • NP_001394551.1:p.Arg466Gln
  • NP_001394552.1:p.Arg466Gln
  • NP_001394553.1:p.Arg466Gln
  • NP_001394554.1:p.Arg466Gln
  • NP_001394555.1:p.Arg466Gln
  • NP_001394556.1:p.Arg465Gln
  • NP_001394557.1:p.Arg465Gln
  • NP_001394558.1:p.Arg465Gln
  • NP_001394559.1:p.Arg465Gln
  • NP_001394560.1:p.Arg465Gln
  • NP_001394561.1:p.Arg465Gln
  • NP_001394562.1:p.Arg465Gln
  • NP_001394563.1:p.Arg465Gln
  • NP_001394564.1:p.Arg465Gln
  • NP_001394565.1:p.Arg465Gln
  • NP_001394566.1:p.Arg465Gln
  • NP_001394567.1:p.Arg465Gln
  • NP_001394568.1:p.Arg466Gln
  • NP_001394569.1:p.Arg466Gln
  • NP_001394570.1:p.Arg466Gln
  • NP_001394571.1:p.Arg466Gln
  • NP_001394573.1:p.Arg465Gln
  • NP_001394574.1:p.Arg465Gln
  • NP_001394575.1:p.Arg463Gln
  • NP_001394576.1:p.Arg463Gln
  • NP_001394577.1:p.Arg425Gln
  • NP_001394578.1:p.Arg424Gln
  • NP_001394581.1:p.Arg466Gln
  • NP_001394582.1:p.Arg440Gln
  • NP_001394583.1:p.Arg440Gln
  • NP_001394584.1:p.Arg440Gln
  • NP_001394585.1:p.Arg440Gln
  • NP_001394586.1:p.Arg440Gln
  • NP_001394587.1:p.Arg440Gln
  • NP_001394588.1:p.Arg439Gln
  • NP_001394589.1:p.Arg439Gln
  • NP_001394590.1:p.Arg439Gln
  • NP_001394591.1:p.Arg439Gln
  • NP_001394592.1:p.Arg440Gln
  • NP_001394593.1:p.Arg425Gln
  • NP_001394594.1:p.Arg425Gln
  • NP_001394595.1:p.Arg425Gln
  • NP_001394596.1:p.Arg425Gln
  • NP_001394597.1:p.Arg425Gln
  • NP_001394598.1:p.Arg425Gln
  • NP_001394599.1:p.Arg424Gln
  • NP_001394600.1:p.Arg424Gln
  • NP_001394601.1:p.Arg424Gln
  • NP_001394602.1:p.Arg424Gln
  • NP_001394603.1:p.Arg425Gln
  • NP_001394604.1:p.Arg425Gln
  • NP_001394605.1:p.Arg425Gln
  • NP_001394606.1:p.Arg425Gln
  • NP_001394607.1:p.Arg425Gln
  • NP_001394608.1:p.Arg425Gln
  • NP_001394609.1:p.Arg425Gln
  • NP_001394610.1:p.Arg425Gln
  • NP_001394611.1:p.Arg425Gln
  • NP_001394612.1:p.Arg425Gln
  • NP_001394613.1:p.Arg466Gln
  • NP_001394614.1:p.Arg424Gln
  • NP_001394615.1:p.Arg424Gln
  • NP_001394616.1:p.Arg424Gln
  • NP_001394617.1:p.Arg424Gln
  • NP_001394618.1:p.Arg424Gln
  • NP_001394619.1:p.Arg424Gln
  • NP_001394620.1:p.Arg424Gln
  • NP_001394621.1:p.Arg419Gln
  • NP_001394623.1:p.Arg419Gln
  • NP_001394624.1:p.Arg419Gln
  • NP_001394625.1:p.Arg419Gln
  • NP_001394626.1:p.Arg419Gln
  • NP_001394627.1:p.Arg419Gln
  • NP_001394653.1:p.Arg419Gln
  • NP_001394654.1:p.Arg419Gln
  • NP_001394655.1:p.Arg419Gln
  • NP_001394656.1:p.Arg419Gln
  • NP_001394657.1:p.Arg419Gln
  • NP_001394658.1:p.Arg419Gln
  • NP_001394659.1:p.Arg419Gln
  • NP_001394660.1:p.Arg419Gln
  • NP_001394661.1:p.Arg419Gln
  • NP_001394662.1:p.Arg419Gln
  • NP_001394663.1:p.Arg419Gln
  • NP_001394664.1:p.Arg419Gln
  • NP_001394665.1:p.Arg419Gln
  • NP_001394666.1:p.Arg419Gln
  • NP_001394667.1:p.Arg419Gln
  • NP_001394668.1:p.Arg419Gln
  • NP_001394669.1:p.Arg418Gln
  • NP_001394670.1:p.Arg418Gln
  • NP_001394671.1:p.Arg418Gln
  • NP_001394672.1:p.Arg418Gln
  • NP_001394673.1:p.Arg418Gln
  • NP_001394674.1:p.Arg418Gln
  • NP_001394675.1:p.Arg418Gln
  • NP_001394676.1:p.Arg418Gln
  • NP_001394677.1:p.Arg418Gln
  • NP_001394678.1:p.Arg418Gln
  • NP_001394679.1:p.Arg419Gln
  • NP_001394680.1:p.Arg419Gln
  • NP_001394681.1:p.Arg419Gln
  • NP_001394767.1:p.Arg418Gln
  • NP_001394768.1:p.Arg418Gln
  • NP_001394770.1:p.Arg418Gln
  • NP_001394771.1:p.Arg418Gln
  • NP_001394772.1:p.Arg418Gln
  • NP_001394773.1:p.Arg418Gln
  • NP_001394774.1:p.Arg418Gln
  • NP_001394775.1:p.Arg418Gln
  • NP_001394776.1:p.Arg418Gln
  • NP_001394777.1:p.Arg418Gln
  • NP_001394778.1:p.Arg418Gln
  • NP_001394779.1:p.Arg419Gln
  • NP_001394780.1:p.Arg419Gln
  • NP_001394781.1:p.Arg419Gln
  • NP_001394782.1:p.Arg395Gln
  • NP_001394783.1:p.Arg466Gln
  • NP_001394787.1:p.Arg466Gln
  • NP_001394788.1:p.Arg466Gln
  • NP_001394789.1:p.Arg465Gln
  • NP_001394790.1:p.Arg465Gln
  • NP_001394791.1:p.Arg399Gln
  • NP_001394792.1:p.Arg425Gln
  • NP_001394803.1:p.Arg398Gln
  • NP_001394804.1:p.Arg398Gln
  • NP_001394808.1:p.Arg396Gln
  • NP_001394810.1:p.Arg396Gln
  • NP_001394811.1:p.Arg396Gln
  • NP_001394813.1:p.Arg396Gln
  • NP_001394814.1:p.Arg396Gln
  • NP_001394815.1:p.Arg396Gln
  • NP_001394816.1:p.Arg396Gln
  • NP_001394818.1:p.Arg396Gln
  • NP_001394823.1:p.Arg395Gln
  • NP_001394824.1:p.Arg395Gln
  • NP_001394825.1:p.Arg395Gln
  • NP_001394826.1:p.Arg395Gln
  • NP_001394827.1:p.Arg395Gln
  • NP_001394828.1:p.Arg395Gln
  • NP_001394829.1:p.Arg396Gln
  • NP_001394831.1:p.Arg396Gln
  • NP_001394833.1:p.Arg396Gln
  • NP_001394835.1:p.Arg396Gln
  • NP_001394836.1:p.Arg396Gln
  • NP_001394837.1:p.Arg396Gln
  • NP_001394838.1:p.Arg396Gln
  • NP_001394839.1:p.Arg396Gln
  • NP_001394844.1:p.Arg395Gln
  • NP_001394845.1:p.Arg395Gln
  • NP_001394846.1:p.Arg395Gln
  • NP_001394847.1:p.Arg395Gln
  • NP_001394848.1:p.Arg425Gln
  • NP_001394849.1:p.Arg378Gln
  • NP_001394850.1:p.Arg378Gln
  • NP_001394851.1:p.Arg378Gln
  • NP_001394852.1:p.Arg378Gln
  • NP_001394853.1:p.Arg378Gln
  • NP_001394854.1:p.Arg378Gln
  • NP_001394855.1:p.Arg378Gln
  • NP_001394856.1:p.Arg378Gln
  • NP_001394857.1:p.Arg378Gln
  • NP_001394858.1:p.Arg378Gln
  • NP_001394859.1:p.Arg377Gln
  • NP_001394860.1:p.Arg377Gln
  • NP_001394861.1:p.Arg377Gln
  • NP_001394862.1:p.Arg378Gln
  • NP_001394863.1:p.Arg377Gln
  • NP_001394864.1:p.Arg378Gln
  • NP_001394865.1:p.Arg377Gln
  • NP_001394866.1:p.Arg425Gln
  • NP_001394867.1:p.Arg425Gln
  • NP_001394868.1:p.Arg425Gln
  • NP_001394869.1:p.Arg424Gln
  • NP_001394870.1:p.Arg424Gln
  • NP_001394871.1:p.Arg419Gln
  • NP_001394872.1:p.Arg418Gln
  • NP_001394873.1:p.Arg419Gln
  • NP_001394874.1:p.Arg419Gln
  • NP_001394875.1:p.Arg355Gln
  • NP_001394876.1:p.Arg355Gln
  • NP_001394877.1:p.Arg355Gln
  • NP_001394878.1:p.Arg355Gln
  • NP_001394879.1:p.Arg355Gln
  • NP_001394880.1:p.Arg355Gln
  • NP_001394881.1:p.Arg355Gln
  • NP_001394882.1:p.Arg355Gln
  • NP_001394883.1:p.Arg354Gln
  • NP_001394884.1:p.Arg354Gln
  • NP_001394885.1:p.Arg354Gln
  • NP_001394886.1:p.Arg355Gln
  • NP_001394887.1:p.Arg354Gln
  • NP_001394888.1:p.Arg339Gln
  • NP_001394889.1:p.Arg339Gln
  • NP_001394891.1:p.Arg338Gln
  • NP_001394892.1:p.Arg339Gln
  • NP_001394893.1:p.Arg418Gln
  • NP_001394894.1:p.Arg298Gln
  • NP_001394895.1:p.Arg170Gln
  • NP_001394896.1:p.Arg170Gln
  • NP_009225.1:p.Arg466Gln
  • NP_009225.1:p.Arg466Gln
  • NP_009228.2:p.Arg419Gln
  • NP_009231.2:p.Arg466Gln
  • LRG_292t1:c.1397G>A
  • LRG_292:g.123850G>A
  • LRG_292p1:p.Arg466Gln
  • NC_000017.10:g.41246151C>T
  • NM_007294.3:c.1397G>A
  • NM_007300.3:c.1397G>A
  • NR_027676.1:n.1533G>A
  • p.R466Q
Nucleotide change:
1516G>A
Protein change:
R170Q
Links:
dbSNP: rs199540030
NCBI 1000 Genomes Browser:
rs199540030
Molecular consequence:
  • NM_001407968.1:c.787+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.787+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.787+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.787+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.784+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.787+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.787+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.787+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.787+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.787+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.787+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.787+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.787+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.787+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.787+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.787+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.784+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.784+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.784+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.787+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.784+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.784+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.787+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.784+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.784+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.784+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.784+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.784+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.784+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.784+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.784+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.787+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.787+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.790+607G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.784+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.778+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.709+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.646+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.709+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.709+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.706+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.709+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.709+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.706+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.670+1712G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.670+1712G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.670+1712G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.667+1712G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.670+1712G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.670+1712G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.667+1712G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.664+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.664+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.664+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.664+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.664+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.664+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.667+1712G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.661+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.661+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.661+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.661+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.664+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.664+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.664+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.664+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.664+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.664+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.664+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.664+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.664+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.661+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.661+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.661+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.661+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.661+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.652+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.646+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.646+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.646+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.646+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.646+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.646+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.646+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.646+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.646+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.646+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.643+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.643+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.643+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.643+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.646+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.646+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.643+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.646+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.643+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.787+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.784+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.586+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.583+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.586+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.577+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.577+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.577+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.577+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.577+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.577+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.577+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.577+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.577+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.574+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.574+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.577+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.574+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-3102G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-3102G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.523+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.523+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.523+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.523+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.523+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.523+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.454+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.520+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.520+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.520+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.460+1712G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.460+1712G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.451+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.451+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.406+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-3102G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.283+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.577+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.577+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.787+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.787+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.1184G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.1388G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.1388G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.1271G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.1319G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.1319G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.1319G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.1319G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.1319G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.1319G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.1316G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.1316G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.1316G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.1316G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.1319G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.1271G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.1271G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.1271G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.1271G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.1271G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.1271G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.1271G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.1271G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.1271G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.1271G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.1271G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.1184G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.1196G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.1193G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.1193G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.1187G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.1187G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.1187G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.1187G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.1187G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.1187G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.1187G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.1187G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.1184G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.1184G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.1184G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.1184G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.1184G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.1184G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.1187G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.1187G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.1187G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.1187G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.1187G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.1187G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.1187G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.1187G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.1184G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.1184G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.1184G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.1184G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.1133G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.1133G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.1133G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.1133G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.1133G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.1133G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.1133G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.1133G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.1133G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.1133G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.1130G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.1130G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.1130G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.1133G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.1130G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.1133G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.1130G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.1271G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.1271G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.1064G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.1064G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.1064G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.1064G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.1064G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.1064G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.1064G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.1064G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.1061G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.1061G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.1061G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.1064G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.1061G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.1016G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.1016G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.1013G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.1016G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.893G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.509G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.509G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Breast-ovarian cancer, familial, susceptibility to, 1 (BROVCA1)
Synonyms:
OVARIAN CANCER, SUSCEPTIBILITY TO; Breast cancer, familial 1
Identifiers:
MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000108866Sharing Clinical Reports Project (SCRP)
no assertion criteria provided
Benign
(Mar 16, 2012) 		germlineclinical testing

SCV000487783Counsyl
criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))		Uncertain significance
(Nov 17, 2015) 		unknownclinical testing

Counsyl Autosomal Dominant Disease Classification criteria (2015),

Citation Link,

SCV004228330Department of Medical and Surgical Sciences, University of Bologna
no assertion criteria provided
Benign
(Sep 1, 2023) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenot provided1not providednot provided1not providedclinical testing

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000108866.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot provided1not providednot providednot providednot providednot providednot provided

From Counsyl, SCV000487783.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Department of Medical and Surgical Sciences, University of Bologna, SCV004228330.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

BS1(Supporting)+BS3(Strong)+BP1(Strong) according to ACMG/AMP classification guidelines specified for BRCA1 & BRCA2 (Classification Criteria V1.0.0 2023-09-08 - https://cspec.genome.network/cspec/ui/svi/affiliation/50087) (PMID: 38160042)

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

Last Updated: Oct 8, 2024