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NM_007294.4(BRCA1):c.1397G>A (p.Arg466Gln) AND not provided

Germline classification:
Conflicting interpretations of pathogenicity (3 submissions)
Last evaluated:
Feb 6, 2023
Review status:
criteria provided, conflicting classifications
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:
RCV001509546.11

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)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000209923GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely benign
(Jul 27, 2018) 		germlineclinical testing

Citation Link,

SCV001716312Mayo Clinic Laboratories, Mayo Clinic
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Dec 7, 2020) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV002046110Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Likely benign
(Feb 6, 2023) 		unknownclinical testing

PubMed (8)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

A Bayesian framework for efficient and accurate variant prediction.

Qian D, Li S, Tian Y, Clifford JW, Sarver BAJ, Pesaran T, Gau CL, Elliott AM, Lu HM, Black MH.

PLoS One. 2018;13(9):e0203553. doi: 10.1371/journal.pone.0203553.

PubMed [citation]
PMID:
30212499
PMCID:
PMC6136750
See all PubMed Citations (9)

Details of each submission

From GeneDx, SCV000209923.13

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

Description

This variant is associated with the following publications: (PMID: 28301460, 26941049)

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

From Mayo Clinic Laboratories, Mayo Clinic, SCV001716312.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV002046110.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (8)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024