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NM_007294.4(BRCA1):c.4837A>T (p.Ser1613Cys) AND not specified

Germline classification:
Benign/Likely benign (2 submissions)
Last evaluated:
Mar 11, 2024
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000048673.14

Allele description [Variation Report for NM_007294.4(BRCA1):c.4837A>T (p.Ser1613Cys)]

NM_007294.4(BRCA1):c.4837A>T (p.Ser1613Cys)

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.4837A>T (p.Ser1613Cys)
Other names:
p.S1613C:AGT>TGT
HGVS:
  • NC_000017.11:g.43071077T>A
  • NG_005905.2:g.146907A>T
  • NM_001407571.1:c.4624A>T
  • NM_001407581.1:c.4903A>T
  • NM_001407582.1:c.4903A>T
  • NM_001407583.1:c.4900A>T
  • NM_001407585.1:c.4900A>T
  • NM_001407587.1:c.4900A>T
  • NM_001407590.1:c.4897A>T
  • NM_001407591.1:c.4897A>T
  • NM_001407593.1:c.4837A>T
  • NM_001407594.1:c.4837A>T
  • NM_001407596.1:c.4837A>T
  • NM_001407597.1:c.4837A>T
  • NM_001407598.1:c.4837A>T
  • NM_001407602.1:c.4837A>T
  • NM_001407603.1:c.4837A>T
  • NM_001407605.1:c.4837A>T
  • NM_001407610.1:c.4834A>T
  • NM_001407611.1:c.4834A>T
  • NM_001407612.1:c.4834A>T
  • NM_001407613.1:c.4834A>T
  • NM_001407614.1:c.4834A>T
  • NM_001407615.1:c.4834A>T
  • NM_001407616.1:c.4834A>T
  • NM_001407617.1:c.4834A>T
  • NM_001407618.1:c.4834A>T
  • NM_001407619.1:c.4834A>T
  • NM_001407620.1:c.4834A>T
  • NM_001407621.1:c.4834A>T
  • NM_001407622.1:c.4834A>T
  • NM_001407623.1:c.4834A>T
  • NM_001407624.1:c.4834A>T
  • NM_001407625.1:c.4834A>T
  • NM_001407626.1:c.4834A>T
  • NM_001407627.1:c.4831A>T
  • NM_001407628.1:c.4831A>T
  • NM_001407629.1:c.4831A>T
  • NM_001407630.1:c.4831A>T
  • NM_001407631.1:c.4831A>T
  • NM_001407632.1:c.4831A>T
  • NM_001407633.1:c.4831A>T
  • NM_001407634.1:c.4831A>T
  • NM_001407635.1:c.4831A>T
  • NM_001407636.1:c.4831A>T
  • NM_001407637.1:c.4831A>T
  • NM_001407638.1:c.4831A>T
  • NM_001407639.1:c.4831A>T
  • NM_001407640.1:c.4831A>T
  • NM_001407641.1:c.4831A>T
  • NM_001407642.1:c.4831A>T
  • NM_001407644.1:c.4828A>T
  • NM_001407645.1:c.4828A>T
  • NM_001407646.1:c.4825A>T
  • NM_001407647.1:c.4822A>T
  • NM_001407648.1:c.4780A>T
  • NM_001407649.1:c.4777A>T
  • NM_001407652.1:c.4837A>T
  • NM_001407653.1:c.4759A>T
  • NM_001407654.1:c.4759A>T
  • NM_001407655.1:c.4759A>T
  • NM_001407656.1:c.4756A>T
  • NM_001407657.1:c.4756A>T
  • NM_001407658.1:c.4756A>T
  • NM_001407659.1:c.4753A>T
  • NM_001407660.1:c.4753A>T
  • NM_001407661.1:c.4753A>T
  • NM_001407662.1:c.4753A>T
  • NM_001407663.1:c.4753A>T
  • NM_001407664.1:c.4714A>T
  • NM_001407665.1:c.4714A>T
  • NM_001407666.1:c.4714A>T
  • NM_001407667.1:c.4714A>T
  • NM_001407668.1:c.4714A>T
  • NM_001407669.1:c.4714A>T
  • NM_001407670.1:c.4711A>T
  • NM_001407671.1:c.4711A>T
  • NM_001407672.1:c.4711A>T
  • NM_001407673.1:c.4711A>T
  • NM_001407674.1:c.4711A>T
  • NM_001407675.1:c.4711A>T
  • NM_001407676.1:c.4711A>T
  • NM_001407677.1:c.4711A>T
  • NM_001407678.1:c.4711A>T
  • NM_001407679.1:c.4711A>T
  • NM_001407680.1:c.4711A>T
  • NM_001407681.1:c.4708A>T
  • NM_001407682.1:c.4708A>T
  • NM_001407683.1:c.4708A>T
  • NM_001407684.1:c.4837A>T
  • NM_001407685.1:c.4708A>T
  • NM_001407686.1:c.4708A>T
  • NM_001407687.1:c.4708A>T
  • NM_001407688.1:c.4708A>T
  • NM_001407689.1:c.4708A>T
  • NM_001407690.1:c.4705A>T
  • NM_001407691.1:c.4705A>T
  • NM_001407692.1:c.4696A>T
  • NM_001407694.1:c.4696A>T
  • NM_001407695.1:c.4696A>T
  • NM_001407696.1:c.4696A>T
  • NM_001407697.1:c.4696A>T
  • NM_001407698.1:c.4696A>T
  • NM_001407724.1:c.4696A>T
  • NM_001407725.1:c.4696A>T
  • NM_001407726.1:c.4696A>T
  • NM_001407727.1:c.4696A>T
  • NM_001407728.1:c.4696A>T
  • NM_001407729.1:c.4696A>T
  • NM_001407730.1:c.4696A>T
  • NM_001407731.1:c.4696A>T
  • NM_001407732.1:c.4693A>T
  • NM_001407733.1:c.4693A>T
  • NM_001407734.1:c.4693A>T
  • NM_001407735.1:c.4693A>T
  • NM_001407736.1:c.4693A>T
  • NM_001407737.1:c.4693A>T
  • NM_001407738.1:c.4693A>T
  • NM_001407739.1:c.4693A>T
  • NM_001407740.1:c.4693A>T
  • NM_001407741.1:c.4693A>T
  • NM_001407742.1:c.4693A>T
  • NM_001407743.1:c.4693A>T
  • NM_001407744.1:c.4693A>T
  • NM_001407745.1:c.4693A>T
  • NM_001407746.1:c.4693A>T
  • NM_001407747.1:c.4693A>T
  • NM_001407748.1:c.4693A>T
  • NM_001407749.1:c.4693A>T
  • NM_001407750.1:c.4693A>T
  • NM_001407751.1:c.4693A>T
  • NM_001407752.1:c.4693A>T
  • NM_001407838.1:c.4690A>T
  • NM_001407839.1:c.4690A>T
  • NM_001407841.1:c.4690A>T
  • NM_001407842.1:c.4690A>T
  • NM_001407843.1:c.4690A>T
  • NM_001407844.1:c.4690A>T
  • NM_001407845.1:c.4690A>T
  • NM_001407846.1:c.4690A>T
  • NM_001407847.1:c.4690A>T
  • NM_001407848.1:c.4690A>T
  • NM_001407849.1:c.4690A>T
  • NM_001407850.1:c.4690A>T
  • NM_001407851.1:c.4690A>T
  • NM_001407852.1:c.4690A>T
  • NM_001407853.1:c.4690A>T
  • NM_001407854.1:c.4837A>T
  • NM_001407858.1:c.4834A>T
  • NM_001407859.1:c.4834A>T
  • NM_001407860.1:c.4834A>T
  • NM_001407861.1:c.4831A>T
  • NM_001407862.1:c.4636A>T
  • NM_001407863.1:c.4711A>T
  • NM_001407874.1:c.4630A>T
  • NM_001407875.1:c.4630A>T
  • NM_001407879.1:c.4627A>T
  • NM_001407881.1:c.4627A>T
  • NM_001407882.1:c.4627A>T
  • NM_001407884.1:c.4627A>T
  • NM_001407885.1:c.4627A>T
  • NM_001407886.1:c.4627A>T
  • NM_001407887.1:c.4627A>T
  • NM_001407889.1:c.4627A>T
  • NM_001407894.1:c.4624A>T
  • NM_001407895.1:c.4624A>T
  • NM_001407896.1:c.4624A>T
  • NM_001407897.1:c.4624A>T
  • NM_001407898.1:c.4624A>T
  • NM_001407899.1:c.4624A>T
  • NM_001407900.1:c.4624A>T
  • NM_001407902.1:c.4624A>T
  • NM_001407904.1:c.4624A>T
  • NM_001407906.1:c.4624A>T
  • NM_001407907.1:c.4624A>T
  • NM_001407908.1:c.4624A>T
  • NM_001407909.1:c.4624A>T
  • NM_001407910.1:c.4624A>T
  • NM_001407915.1:c.4621A>T
  • NM_001407916.1:c.4621A>T
  • NM_001407917.1:c.4621A>T
  • NM_001407918.1:c.4621A>T
  • NM_001407919.1:c.4714A>T
  • NM_001407920.1:c.4573A>T
  • NM_001407921.1:c.4573A>T
  • NM_001407922.1:c.4573A>T
  • NM_001407923.1:c.4573A>T
  • NM_001407924.1:c.4573A>T
  • NM_001407925.1:c.4573A>T
  • NM_001407926.1:c.4573A>T
  • NM_001407927.1:c.4570A>T
  • NM_001407928.1:c.4570A>T
  • NM_001407929.1:c.4570A>T
  • NM_001407930.1:c.4570A>T
  • NM_001407931.1:c.4570A>T
  • NM_001407932.1:c.4570A>T
  • NM_001407933.1:c.4570A>T
  • NM_001407934.1:c.4567A>T
  • NM_001407935.1:c.4567A>T
  • NM_001407936.1:c.4567A>T
  • NM_001407937.1:c.4714A>T
  • NM_001407938.1:c.4714A>T
  • NM_001407939.1:c.4711A>T
  • NM_001407940.1:c.4711A>T
  • NM_001407941.1:c.4708A>T
  • NM_001407942.1:c.4696A>T
  • NM_001407943.1:c.4693A>T
  • NM_001407944.1:c.4693A>T
  • NM_001407945.1:c.4693A>T
  • NM_001407946.1:c.4504A>T
  • NM_001407947.1:c.4504A>T
  • NM_001407948.1:c.4504A>T
  • NM_001407949.1:c.4504A>T
  • NM_001407950.1:c.4501A>T
  • NM_001407951.1:c.4501A>T
  • NM_001407952.1:c.4501A>T
  • NM_001407953.1:c.4501A>T
  • NM_001407954.1:c.4501A>T
  • NM_001407955.1:c.4501A>T
  • NM_001407956.1:c.4498A>T
  • NM_001407957.1:c.4498A>T
  • NM_001407958.1:c.4498A>T
  • NM_001407959.1:c.4456A>T
  • NM_001407960.1:c.4453A>T
  • NM_001407962.1:c.4453A>T
  • NM_001407963.1:c.4450A>T
  • NM_001407964.1:c.4375A>T
  • NM_001407965.1:c.4330A>T
  • NM_001407966.1:c.3949A>T
  • NM_001407967.1:c.3946A>T
  • NM_001407968.1:c.2233A>T
  • NM_001407969.1:c.2230A>T
  • NM_001407970.1:c.1594A>T
  • NM_001407971.1:c.1594A>T
  • NM_001407972.1:c.1591A>T
  • NM_001407973.1:c.1528A>T
  • NM_001407974.1:c.1528A>T
  • NM_001407975.1:c.1528A>T
  • NM_001407976.1:c.1528A>T
  • NM_001407977.1:c.1528A>T
  • NM_001407978.1:c.1528A>T
  • NM_001407979.1:c.1525A>T
  • NM_001407980.1:c.1525A>T
  • NM_001407981.1:c.1525A>T
  • NM_001407982.1:c.1525A>T
  • NM_001407983.1:c.1525A>T
  • NM_001407984.1:c.1525A>T
  • NM_001407985.1:c.1525A>T
  • NM_001407986.1:c.1525A>T
  • NM_001407990.1:c.1525A>T
  • NM_001407991.1:c.1525A>T
  • NM_001407992.1:c.1525A>T
  • NM_001407993.1:c.1525A>T
  • NM_001408392.1:c.1522A>T
  • NM_001408396.1:c.1522A>T
  • NM_001408397.1:c.1522A>T
  • NM_001408398.1:c.1522A>T
  • NM_001408399.1:c.1522A>T
  • NM_001408400.1:c.1522A>T
  • NM_001408401.1:c.1522A>T
  • NM_001408402.1:c.1522A>T
  • NM_001408403.1:c.1522A>T
  • NM_001408404.1:c.1522A>T
  • NM_001408406.1:c.1519A>T
  • NM_001408407.1:c.1519A>T
  • NM_001408408.1:c.1519A>T
  • NM_001408409.1:c.1516A>T
  • NM_001408410.1:c.1453A>T
  • NM_001408411.1:c.1450A>T
  • NM_001408412.1:c.1447A>T
  • NM_001408413.1:c.1447A>T
  • NM_001408414.1:c.1447A>T
  • NM_001408415.1:c.1447A>T
  • NM_001408416.1:c.1447A>T
  • NM_001408418.1:c.1411A>T
  • NM_001408419.1:c.1411A>T
  • NM_001408420.1:c.1411A>T
  • NM_001408421.1:c.1408A>T
  • NM_001408422.1:c.1408A>T
  • NM_001408423.1:c.1408A>T
  • NM_001408424.1:c.1408A>T
  • NM_001408425.1:c.1405A>T
  • NM_001408426.1:c.1405A>T
  • NM_001408427.1:c.1405A>T
  • NM_001408428.1:c.1405A>T
  • NM_001408429.1:c.1405A>T
  • NM_001408430.1:c.1405A>T
  • NM_001408431.1:c.1405A>T
  • NM_001408432.1:c.1402A>T
  • NM_001408433.1:c.1402A>T
  • NM_001408434.1:c.1402A>T
  • NM_001408435.1:c.1402A>T
  • NM_001408436.1:c.1402A>T
  • NM_001408437.1:c.1402A>T
  • NM_001408438.1:c.1402A>T
  • NM_001408439.1:c.1402A>T
  • NM_001408440.1:c.1402A>T
  • NM_001408441.1:c.1402A>T
  • NM_001408442.1:c.1402A>T
  • NM_001408443.1:c.1402A>T
  • NM_001408444.1:c.1402A>T
  • NM_001408445.1:c.1399A>T
  • NM_001408446.1:c.1399A>T
  • NM_001408447.1:c.1399A>T
  • NM_001408448.1:c.1399A>T
  • NM_001408450.1:c.1399A>T
  • NM_001408451.1:c.1393A>T
  • NM_001408452.1:c.1387A>T
  • NM_001408453.1:c.1387A>T
  • NM_001408454.1:c.1387A>T
  • NM_001408455.1:c.1387A>T
  • NM_001408456.1:c.1387A>T
  • NM_001408457.1:c.1387A>T
  • NM_001408458.1:c.1384A>T
  • NM_001408459.1:c.1384A>T
  • NM_001408460.1:c.1384A>T
  • NM_001408461.1:c.1384A>T
  • NM_001408462.1:c.1384A>T
  • NM_001408463.1:c.1384A>T
  • NM_001408464.1:c.1384A>T
  • NM_001408465.1:c.1384A>T
  • NM_001408466.1:c.1384A>T
  • NM_001408467.1:c.1384A>T
  • NM_001408468.1:c.1381A>T
  • NM_001408469.1:c.1381A>T
  • NM_001408470.1:c.1381A>T
  • NM_001408472.1:c.1525A>T
  • NM_001408473.1:c.1522A>T
  • NM_001408474.1:c.1327A>T
  • NM_001408475.1:c.1324A>T
  • NM_001408476.1:c.1324A>T
  • NM_001408478.1:c.1318A>T
  • NM_001408479.1:c.1318A>T
  • NM_001408480.1:c.1318A>T
  • NM_001408481.1:c.1315A>T
  • NM_001408482.1:c.1315A>T
  • NM_001408483.1:c.1315A>T
  • NM_001408484.1:c.1315A>T
  • NM_001408485.1:c.1315A>T
  • NM_001408489.1:c.1315A>T
  • NM_001408490.1:c.1315A>T
  • NM_001408491.1:c.1315A>T
  • NM_001408492.1:c.1312A>T
  • NM_001408493.1:c.1312A>T
  • NM_001408494.1:c.1288A>T
  • NM_001408495.1:c.1282A>T
  • NM_001408496.1:c.1264A>T
  • NM_001408497.1:c.1264A>T
  • NM_001408498.1:c.1264A>T
  • NM_001408499.1:c.1264A>T
  • NM_001408500.1:c.1264A>T
  • NM_001408501.1:c.1264A>T
  • NM_001408502.1:c.1261A>T
  • NM_001408503.1:c.1261A>T
  • NM_001408504.1:c.1261A>T
  • NM_001408505.1:c.1258A>T
  • NM_001408506.1:c.1201A>T
  • NM_001408507.1:c.1198A>T
  • NM_001408508.1:c.1189A>T
  • NM_001408509.1:c.1186A>T
  • NM_001408510.1:c.1147A>T
  • NM_001408511.1:c.1144A>T
  • NM_001408512.1:c.1024A>T
  • NM_001408513.1:c.997A>T
  • NM_007294.4:c.4837A>TMANE SELECT
  • NM_007297.4:c.4696A>T
  • NM_007298.4:c.1525A>T
  • NM_007299.4:c.1525A>T
  • NM_007300.4:c.4900A>T
  • NM_007304.2:c.1525A>T
  • NP_001394500.1:p.Ser1542Cys
  • NP_001394510.1:p.Ser1635Cys
  • NP_001394511.1:p.Ser1635Cys
  • NP_001394512.1:p.Ser1634Cys
  • NP_001394514.1:p.Ser1634Cys
  • NP_001394516.1:p.Ser1634Cys
  • NP_001394519.1:p.Ser1633Cys
  • NP_001394520.1:p.Ser1633Cys
  • NP_001394522.1:p.Ser1613Cys
  • NP_001394523.1:p.Ser1613Cys
  • NP_001394525.1:p.Ser1613Cys
  • NP_001394526.1:p.Ser1613Cys
  • NP_001394527.1:p.Ser1613Cys
  • NP_001394531.1:p.Ser1613Cys
  • NP_001394532.1:p.Ser1613Cys
  • NP_001394534.1:p.Ser1613Cys
  • NP_001394539.1:p.Ser1612Cys
  • NP_001394540.1:p.Ser1612Cys
  • NP_001394541.1:p.Ser1612Cys
  • NP_001394542.1:p.Ser1612Cys
  • NP_001394543.1:p.Ser1612Cys
  • NP_001394544.1:p.Ser1612Cys
  • NP_001394545.1:p.Ser1612Cys
  • NP_001394546.1:p.Ser1612Cys
  • NP_001394547.1:p.Ser1612Cys
  • NP_001394548.1:p.Ser1612Cys
  • NP_001394549.1:p.Ser1612Cys
  • NP_001394550.1:p.Ser1612Cys
  • NP_001394551.1:p.Ser1612Cys
  • NP_001394552.1:p.Ser1612Cys
  • NP_001394553.1:p.Ser1612Cys
  • NP_001394554.1:p.Ser1612Cys
  • NP_001394555.1:p.Ser1612Cys
  • NP_001394556.1:p.Ser1611Cys
  • NP_001394557.1:p.Ser1611Cys
  • NP_001394558.1:p.Ser1611Cys
  • NP_001394559.1:p.Ser1611Cys
  • NP_001394560.1:p.Ser1611Cys
  • NP_001394561.1:p.Ser1611Cys
  • NP_001394562.1:p.Ser1611Cys
  • NP_001394563.1:p.Ser1611Cys
  • NP_001394564.1:p.Ser1611Cys
  • NP_001394565.1:p.Ser1611Cys
  • NP_001394566.1:p.Ser1611Cys
  • NP_001394567.1:p.Ser1611Cys
  • NP_001394568.1:p.Ser1611Cys
  • NP_001394569.1:p.Ser1611Cys
  • NP_001394570.1:p.Ser1611Cys
  • NP_001394571.1:p.Ser1611Cys
  • NP_001394573.1:p.Ser1610Cys
  • NP_001394574.1:p.Ser1610Cys
  • NP_001394575.1:p.Ser1609Cys
  • NP_001394576.1:p.Ser1608Cys
  • NP_001394577.1:p.Ser1594Cys
  • NP_001394578.1:p.Ser1593Cys
  • NP_001394581.1:p.Ser1613Cys
  • NP_001394582.1:p.Ser1587Cys
  • NP_001394583.1:p.Ser1587Cys
  • NP_001394584.1:p.Ser1587Cys
  • NP_001394585.1:p.Ser1586Cys
  • NP_001394586.1:p.Ser1586Cys
  • NP_001394587.1:p.Ser1586Cys
  • NP_001394588.1:p.Ser1585Cys
  • NP_001394589.1:p.Ser1585Cys
  • NP_001394590.1:p.Ser1585Cys
  • NP_001394591.1:p.Ser1585Cys
  • NP_001394592.1:p.Ser1585Cys
  • NP_001394593.1:p.Ser1572Cys
  • NP_001394594.1:p.Ser1572Cys
  • NP_001394595.1:p.Ser1572Cys
  • NP_001394596.1:p.Ser1572Cys
  • NP_001394597.1:p.Ser1572Cys
  • NP_001394598.1:p.Ser1572Cys
  • NP_001394599.1:p.Ser1571Cys
  • NP_001394600.1:p.Ser1571Cys
  • NP_001394601.1:p.Ser1571Cys
  • NP_001394602.1:p.Ser1571Cys
  • NP_001394603.1:p.Ser1571Cys
  • NP_001394604.1:p.Ser1571Cys
  • NP_001394605.1:p.Ser1571Cys
  • NP_001394606.1:p.Ser1571Cys
  • NP_001394607.1:p.Ser1571Cys
  • NP_001394608.1:p.Ser1571Cys
  • NP_001394609.1:p.Ser1571Cys
  • NP_001394610.1:p.Ser1570Cys
  • NP_001394611.1:p.Ser1570Cys
  • NP_001394612.1:p.Ser1570Cys
  • NP_001394613.1:p.Ser1613Cys
  • NP_001394614.1:p.Ser1570Cys
  • NP_001394615.1:p.Ser1570Cys
  • NP_001394616.1:p.Ser1570Cys
  • NP_001394617.1:p.Ser1570Cys
  • NP_001394618.1:p.Ser1570Cys
  • NP_001394619.1:p.Ser1569Cys
  • NP_001394620.1:p.Ser1569Cys
  • NP_001394621.1:p.Ser1566Cys
  • NP_001394623.1:p.Ser1566Cys
  • NP_001394624.1:p.Ser1566Cys
  • NP_001394625.1:p.Ser1566Cys
  • NP_001394626.1:p.Ser1566Cys
  • NP_001394627.1:p.Ser1566Cys
  • NP_001394653.1:p.Ser1566Cys
  • NP_001394654.1:p.Ser1566Cys
  • NP_001394655.1:p.Ser1566Cys
  • NP_001394656.1:p.Ser1566Cys
  • NP_001394657.1:p.Ser1566Cys
  • NP_001394658.1:p.Ser1566Cys
  • NP_001394659.1:p.Ser1566Cys
  • NP_001394660.1:p.Ser1566Cys
  • NP_001394661.1:p.Ser1565Cys
  • NP_001394662.1:p.Ser1565Cys
  • NP_001394663.1:p.Ser1565Cys
  • NP_001394664.1:p.Ser1565Cys
  • NP_001394665.1:p.Ser1565Cys
  • NP_001394666.1:p.Ser1565Cys
  • NP_001394667.1:p.Ser1565Cys
  • NP_001394668.1:p.Ser1565Cys
  • NP_001394669.1:p.Ser1565Cys
  • NP_001394670.1:p.Ser1565Cys
  • NP_001394671.1:p.Ser1565Cys
  • NP_001394672.1:p.Ser1565Cys
  • NP_001394673.1:p.Ser1565Cys
  • NP_001394674.1:p.Ser1565Cys
  • NP_001394675.1:p.Ser1565Cys
  • NP_001394676.1:p.Ser1565Cys
  • NP_001394677.1:p.Ser1565Cys
  • NP_001394678.1:p.Ser1565Cys
  • NP_001394679.1:p.Ser1565Cys
  • NP_001394680.1:p.Ser1565Cys
  • NP_001394681.1:p.Ser1565Cys
  • NP_001394767.1:p.Ser1564Cys
  • NP_001394768.1:p.Ser1564Cys
  • NP_001394770.1:p.Ser1564Cys
  • NP_001394771.1:p.Ser1564Cys
  • NP_001394772.1:p.Ser1564Cys
  • NP_001394773.1:p.Ser1564Cys
  • NP_001394774.1:p.Ser1564Cys
  • NP_001394775.1:p.Ser1564Cys
  • NP_001394776.1:p.Ser1564Cys
  • NP_001394777.1:p.Ser1564Cys
  • NP_001394778.1:p.Ser1564Cys
  • NP_001394779.1:p.Ser1564Cys
  • NP_001394780.1:p.Ser1564Cys
  • NP_001394781.1:p.Ser1564Cys
  • NP_001394782.1:p.Ser1564Cys
  • NP_001394783.1:p.Ser1613Cys
  • NP_001394787.1:p.Ser1612Cys
  • NP_001394788.1:p.Ser1612Cys
  • NP_001394789.1:p.Ser1612Cys
  • NP_001394790.1:p.Ser1611Cys
  • NP_001394791.1:p.Ser1546Cys
  • NP_001394792.1:p.Ser1571Cys
  • NP_001394803.1:p.Ser1544Cys
  • NP_001394804.1:p.Ser1544Cys
  • NP_001394808.1:p.Ser1543Cys
  • NP_001394810.1:p.Ser1543Cys
  • NP_001394811.1:p.Ser1543Cys
  • NP_001394813.1:p.Ser1543Cys
  • NP_001394814.1:p.Ser1543Cys
  • NP_001394815.1:p.Ser1543Cys
  • NP_001394816.1:p.Ser1543Cys
  • NP_001394818.1:p.Ser1543Cys
  • NP_001394823.1:p.Ser1542Cys
  • NP_001394824.1:p.Ser1542Cys
  • NP_001394825.1:p.Ser1542Cys
  • NP_001394826.1:p.Ser1542Cys
  • NP_001394827.1:p.Ser1542Cys
  • NP_001394828.1:p.Ser1542Cys
  • NP_001394829.1:p.Ser1542Cys
  • NP_001394831.1:p.Ser1542Cys
  • NP_001394833.1:p.Ser1542Cys
  • NP_001394835.1:p.Ser1542Cys
  • NP_001394836.1:p.Ser1542Cys
  • NP_001394837.1:p.Ser1542Cys
  • NP_001394838.1:p.Ser1542Cys
  • NP_001394839.1:p.Ser1542Cys
  • NP_001394844.1:p.Ser1541Cys
  • NP_001394845.1:p.Ser1541Cys
  • NP_001394846.1:p.Ser1541Cys
  • NP_001394847.1:p.Ser1541Cys
  • NP_001394848.1:p.Ser1572Cys
  • NP_001394849.1:p.Ser1525Cys
  • NP_001394850.1:p.Ser1525Cys
  • NP_001394851.1:p.Ser1525Cys
  • NP_001394852.1:p.Ser1525Cys
  • NP_001394853.1:p.Ser1525Cys
  • NP_001394854.1:p.Ser1525Cys
  • NP_001394855.1:p.Ser1525Cys
  • NP_001394856.1:p.Ser1524Cys
  • NP_001394857.1:p.Ser1524Cys
  • NP_001394858.1:p.Ser1524Cys
  • NP_001394859.1:p.Ser1524Cys
  • NP_001394860.1:p.Ser1524Cys
  • NP_001394861.1:p.Ser1524Cys
  • NP_001394862.1:p.Ser1524Cys
  • NP_001394863.1:p.Ser1523Cys
  • NP_001394864.1:p.Ser1523Cys
  • NP_001394865.1:p.Ser1523Cys
  • NP_001394866.1:p.Ser1572Cys
  • NP_001394867.1:p.Ser1572Cys
  • NP_001394868.1:p.Ser1571Cys
  • NP_001394869.1:p.Ser1571Cys
  • NP_001394870.1:p.Ser1570Cys
  • NP_001394871.1:p.Ser1566Cys
  • NP_001394872.1:p.Ser1565Cys
  • NP_001394873.1:p.Ser1565Cys
  • NP_001394874.1:p.Ser1565Cys
  • NP_001394875.1:p.Ser1502Cys
  • NP_001394876.1:p.Ser1502Cys
  • NP_001394877.1:p.Ser1502Cys
  • NP_001394878.1:p.Ser1502Cys
  • NP_001394879.1:p.Ser1501Cys
  • NP_001394880.1:p.Ser1501Cys
  • NP_001394881.1:p.Ser1501Cys
  • NP_001394882.1:p.Ser1501Cys
  • NP_001394883.1:p.Ser1501Cys
  • NP_001394884.1:p.Ser1501Cys
  • NP_001394885.1:p.Ser1500Cys
  • NP_001394886.1:p.Ser1500Cys
  • NP_001394887.1:p.Ser1500Cys
  • NP_001394888.1:p.Ser1486Cys
  • NP_001394889.1:p.Ser1485Cys
  • NP_001394891.1:p.Ser1485Cys
  • NP_001394892.1:p.Ser1484Cys
  • NP_001394893.1:p.Ser1459Cys
  • NP_001394894.1:p.Ser1444Cys
  • NP_001394895.1:p.Ser1317Cys
  • NP_001394896.1:p.Ser1316Cys
  • NP_001394897.1:p.Ser745Cys
  • NP_001394898.1:p.Ser744Cys
  • NP_001394899.1:p.Ser532Cys
  • NP_001394900.1:p.Ser532Cys
  • NP_001394901.1:p.Ser531Cys
  • NP_001394902.1:p.Ser510Cys
  • NP_001394903.1:p.Ser510Cys
  • NP_001394904.1:p.Ser510Cys
  • NP_001394905.1:p.Ser510Cys
  • NP_001394906.1:p.Ser510Cys
  • NP_001394907.1:p.Ser510Cys
  • NP_001394908.1:p.Ser509Cys
  • NP_001394909.1:p.Ser509Cys
  • NP_001394910.1:p.Ser509Cys
  • NP_001394911.1:p.Ser509Cys
  • NP_001394912.1:p.Ser509Cys
  • NP_001394913.1:p.Ser509Cys
  • NP_001394914.1:p.Ser509Cys
  • NP_001394915.1:p.Ser509Cys
  • NP_001394919.1:p.Ser509Cys
  • NP_001394920.1:p.Ser509Cys
  • NP_001394921.1:p.Ser509Cys
  • NP_001394922.1:p.Ser509Cys
  • NP_001395321.1:p.Ser508Cys
  • NP_001395325.1:p.Ser508Cys
  • NP_001395326.1:p.Ser508Cys
  • NP_001395327.1:p.Ser508Cys
  • NP_001395328.1:p.Ser508Cys
  • NP_001395329.1:p.Ser508Cys
  • NP_001395330.1:p.Ser508Cys
  • NP_001395331.1:p.Ser508Cys
  • NP_001395332.1:p.Ser508Cys
  • NP_001395333.1:p.Ser508Cys
  • NP_001395335.1:p.Ser507Cys
  • NP_001395336.1:p.Ser507Cys
  • NP_001395337.1:p.Ser507Cys
  • NP_001395338.1:p.Ser506Cys
  • NP_001395339.1:p.Ser485Cys
  • NP_001395340.1:p.Ser484Cys
  • NP_001395341.1:p.Ser483Cys
  • NP_001395342.1:p.Ser483Cys
  • NP_001395343.1:p.Ser483Cys
  • NP_001395344.1:p.Ser483Cys
  • NP_001395345.1:p.Ser483Cys
  • NP_001395347.1:p.Ser471Cys
  • NP_001395348.1:p.Ser471Cys
  • NP_001395349.1:p.Ser471Cys
  • NP_001395350.1:p.Ser470Cys
  • NP_001395351.1:p.Ser470Cys
  • NP_001395352.1:p.Ser470Cys
  • NP_001395353.1:p.Ser470Cys
  • NP_001395354.1:p.Ser469Cys
  • NP_001395355.1:p.Ser469Cys
  • NP_001395356.1:p.Ser469Cys
  • NP_001395357.1:p.Ser469Cys
  • NP_001395358.1:p.Ser469Cys
  • NP_001395359.1:p.Ser469Cys
  • NP_001395360.1:p.Ser469Cys
  • NP_001395361.1:p.Ser468Cys
  • NP_001395362.1:p.Ser468Cys
  • NP_001395363.1:p.Ser468Cys
  • NP_001395364.1:p.Ser468Cys
  • NP_001395365.1:p.Ser468Cys
  • NP_001395366.1:p.Ser468Cys
  • NP_001395367.1:p.Ser468Cys
  • NP_001395368.1:p.Ser468Cys
  • NP_001395369.1:p.Ser468Cys
  • NP_001395370.1:p.Ser468Cys
  • NP_001395371.1:p.Ser468Cys
  • NP_001395372.1:p.Ser468Cys
  • NP_001395373.1:p.Ser468Cys
  • NP_001395374.1:p.Ser467Cys
  • NP_001395375.1:p.Ser467Cys
  • NP_001395376.1:p.Ser467Cys
  • NP_001395377.1:p.Ser467Cys
  • NP_001395379.1:p.Ser467Cys
  • NP_001395380.1:p.Ser465Cys
  • NP_001395381.1:p.Ser463Cys
  • NP_001395382.1:p.Ser463Cys
  • NP_001395383.1:p.Ser463Cys
  • NP_001395384.1:p.Ser463Cys
  • NP_001395385.1:p.Ser463Cys
  • NP_001395386.1:p.Ser463Cys
  • NP_001395387.1:p.Ser462Cys
  • NP_001395388.1:p.Ser462Cys
  • NP_001395389.1:p.Ser462Cys
  • NP_001395390.1:p.Ser462Cys
  • NP_001395391.1:p.Ser462Cys
  • NP_001395392.1:p.Ser462Cys
  • NP_001395393.1:p.Ser462Cys
  • NP_001395394.1:p.Ser462Cys
  • NP_001395395.1:p.Ser462Cys
  • NP_001395396.1:p.Ser462Cys
  • NP_001395397.1:p.Ser461Cys
  • NP_001395398.1:p.Ser461Cys
  • NP_001395399.1:p.Ser461Cys
  • NP_001395401.1:p.Ser509Cys
  • NP_001395402.1:p.Ser508Cys
  • NP_001395403.1:p.Ser443Cys
  • NP_001395404.1:p.Ser442Cys
  • NP_001395405.1:p.Ser442Cys
  • NP_001395407.1:p.Ser440Cys
  • NP_001395408.1:p.Ser440Cys
  • NP_001395409.1:p.Ser440Cys
  • NP_001395410.1:p.Ser439Cys
  • NP_001395411.1:p.Ser439Cys
  • NP_001395412.1:p.Ser439Cys
  • NP_001395413.1:p.Ser439Cys
  • NP_001395414.1:p.Ser439Cys
  • NP_001395418.1:p.Ser439Cys
  • NP_001395419.1:p.Ser439Cys
  • NP_001395420.1:p.Ser439Cys
  • NP_001395421.1:p.Ser438Cys
  • NP_001395422.1:p.Ser438Cys
  • NP_001395423.1:p.Ser430Cys
  • NP_001395424.1:p.Ser428Cys
  • NP_001395425.1:p.Ser422Cys
  • NP_001395426.1:p.Ser422Cys
  • NP_001395427.1:p.Ser422Cys
  • NP_001395428.1:p.Ser422Cys
  • NP_001395429.1:p.Ser422Cys
  • NP_001395430.1:p.Ser422Cys
  • NP_001395431.1:p.Ser421Cys
  • NP_001395432.1:p.Ser421Cys
  • NP_001395433.1:p.Ser421Cys
  • NP_001395434.1:p.Ser420Cys
  • NP_001395435.1:p.Ser401Cys
  • NP_001395436.1:p.Ser400Cys
  • NP_001395437.1:p.Ser397Cys
  • NP_001395438.1:p.Ser396Cys
  • NP_001395439.1:p.Ser383Cys
  • NP_001395440.1:p.Ser382Cys
  • NP_001395441.1:p.Ser342Cys
  • NP_001395442.1:p.Ser333Cys
  • NP_009225.1:p.Ser1613Cys
  • NP_009225.1:p.Ser1613Cys
  • NP_009228.2:p.Ser1566Cys
  • NP_009229.2:p.Ser509Cys
  • NP_009229.2:p.Ser509Cys
  • NP_009230.2:p.Ser509Cys
  • NP_009231.2:p.Ser1634Cys
  • NP_009235.2:p.Ser509Cys
  • LRG_292t1:c.4837A>T
  • LRG_292:g.146907A>T
  • LRG_292p1:p.Ser1613Cys
  • NC_000017.10:g.41223094T>A
  • NM_007294.3:c.4837A>T
  • NM_007298.3:c.1525A>T
  • NR_027676.2:n.5014A>T
  • U14680.1:n.4956A>T
  • p.S1613C
Nucleotide change:
4956A>T
Protein change:
S1316C
Links:
dbSNP: rs1799966
NCBI 1000 Genomes Browser:
rs1799966
Molecular consequence:
  • NM_001407571.1:c.4624A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.4903A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.4903A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.4900A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.4900A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.4900A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.4897A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.4897A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.4837A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.4837A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.4837A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.4837A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.4837A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.4837A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.4837A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.4837A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.4834A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.4834A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.4834A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.4834A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.4834A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.4834A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.4834A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.4834A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.4834A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.4834A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.4834A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.4834A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.4834A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.4834A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.4834A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.4834A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.4834A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.4831A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.4831A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.4831A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.4831A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.4831A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.4831A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.4831A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.4831A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.4831A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.4831A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.4831A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.4831A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.4831A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.4831A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.4831A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.4831A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.4828A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.4828A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.4825A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.4822A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.4780A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.4777A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.4837A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.4759A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.4759A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.4759A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.4756A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.4756A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.4756A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.4753A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.4753A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.4753A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.4753A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.4753A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.4714A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.4714A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.4714A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.4714A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.4714A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.4714A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.4711A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.4711A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.4711A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.4711A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.4711A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.4711A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.4711A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.4711A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.4711A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.4711A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.4711A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.4708A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.4708A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.4708A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.4837A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.4708A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.4708A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.4708A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.4708A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.4708A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.4705A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.4705A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.4696A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.4696A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.4696A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.4696A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.4696A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.4696A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.4696A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.4696A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.4696A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.4696A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.4696A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.4696A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.4696A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.4696A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.4693A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.4693A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.4693A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.4693A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.4693A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.4693A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.4693A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.4693A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.4693A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.4693A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.4693A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.4693A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.4693A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.4693A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.4693A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.4693A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.4693A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.4693A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.4693A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.4693A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.4693A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.4690A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.4690A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.4690A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.4690A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.4690A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.4690A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.4690A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.4690A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.4690A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.4690A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.4690A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.4690A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.4690A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.4690A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.4690A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.4837A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.4834A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.4834A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.4834A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.4831A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.4636A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.4711A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.4630A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.4630A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.4627A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.4627A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.4627A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.4627A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.4627A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.4627A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.4627A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.4627A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.4624A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.4624A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.4624A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.4624A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.4624A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.4624A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.4624A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.4624A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.4624A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.4624A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.4624A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.4624A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.4624A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.4624A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.4621A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.4621A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.4621A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.4621A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.4714A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.4573A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.4573A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.4573A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.4573A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.4573A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.4573A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.4573A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.4570A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.4570A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.4570A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.4570A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.4570A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.4570A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.4570A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.4567A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.4567A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.4567A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.4714A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.4714A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.4711A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.4711A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.4708A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.4696A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.4693A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.4693A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.4693A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.4504A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.4504A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.4504A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.4504A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.4501A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.4501A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.4501A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.4501A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.4501A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.4501A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.4498A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.4498A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.4498A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.4456A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.4453A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.4453A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.4450A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.4375A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.4330A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.3949A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.3946A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.2233A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.2230A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.1594A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.1594A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.1591A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.1528A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.1528A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.1528A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.1528A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.1528A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.1528A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.1525A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.1525A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.1525A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.1525A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.1525A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.1525A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.1525A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.1525A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.1525A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.1525A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.1525A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.1525A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.1522A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.1522A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.1522A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.1522A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.1522A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.1522A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.1522A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.1522A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.1522A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.1522A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.1519A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.1519A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.1519A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.1516A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408410.1:c.1453A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.1450A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.1447A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.1447A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.1447A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.1447A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.1447A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.1411A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.1411A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.1411A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.1408A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.1408A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.1408A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.1408A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.1405A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.1405A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.1405A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.1405A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.1405A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.1405A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.1405A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.1402A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.1402A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.1402A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.1402A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.1402A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.1402A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.1402A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.1402A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.1402A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.1402A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.1402A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.1402A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.1402A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.1399A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.1399A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.1399A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.1399A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.1399A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408451.1:c.1393A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408452.1:c.1387A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408453.1:c.1387A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408454.1:c.1387A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408455.1:c.1387A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408456.1:c.1387A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408457.1:c.1387A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408458.1:c.1384A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408459.1:c.1384A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408460.1:c.1384A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408461.1:c.1384A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408462.1:c.1384A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408463.1:c.1384A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408464.1:c.1384A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408465.1:c.1384A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408466.1:c.1384A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408467.1:c.1384A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408468.1:c.1381A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408469.1:c.1381A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408470.1:c.1381A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408472.1:c.1525A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408473.1:c.1522A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.1327A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.1324A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.1324A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408478.1:c.1318A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408479.1:c.1318A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408480.1:c.1318A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408481.1:c.1315A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408482.1:c.1315A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408483.1:c.1315A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408484.1:c.1315A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408485.1:c.1315A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408489.1:c.1315A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408490.1:c.1315A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408491.1:c.1315A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408492.1:c.1312A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408493.1:c.1312A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.1288A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.1282A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408496.1:c.1264A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408497.1:c.1264A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408498.1:c.1264A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408499.1:c.1264A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408500.1:c.1264A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408501.1:c.1264A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408502.1:c.1261A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408503.1:c.1261A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408504.1:c.1261A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408505.1:c.1258A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408506.1:c.1201A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408507.1:c.1198A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408508.1:c.1189A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408509.1:c.1186A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408510.1:c.1147A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408511.1:c.1144A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408512.1:c.1024A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408513.1:c.997A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.4837A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.4696A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.1525A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.1525A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.4900A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.1525A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.5014A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000605893Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Benign
(Apr 18, 2019) 		unknownclinical testing

PubMed (15)
[See all records that cite these PMIDs]

SCV000699177Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Likely benign
(Mar 11, 2024) 		germlineclinical testing

PubMed (10)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

A computational method to classify variants of uncertain significance using functional assay data with application to BRCA1.

Iversen ES Jr, Couch FJ, Goldgar DE, Tavtigian SV, Monteiro AN.

Cancer Epidemiol Biomarkers Prev. 2011 Jun;20(6):1078-88. doi: 10.1158/1055-9965.EPI-10-1214. Epub 2011 Mar 29.

PubMed [citation]
PMID:
21447777
PMCID:
PMC3111818

Proteogenomics connects somatic mutations to signalling in breast cancer.

Mertins P, Mani DR, Ruggles KV, Gillette MA, Clauser KR, Wang P, Wang X, Qiao JW, Cao S, Petralia F, Kawaler E, Mundt F, Krug K, Tu Z, Lei JT, Gatza ML, Wilkerson M, Perou CM, Yellapantula V, Huang KL, Lin C, McLellan MD, et al.

Nature. 2016 Jun 2;534(7605):55-62. doi: 10.1038/nature18003. Epub 2016 May 25.

PubMed [citation]
PMID:
27251275
PMCID:
PMC5102256
See all PubMed Citations (20)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000605893.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (15)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000699177.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (10)

Description

Variant summary: BRCA1 c.4837A>T (p.Ser1613Cys) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 5.2e-05 in 251384 control chromosomes, predominantly at a frequency of 0.0008 within the African or African-American subpopulation in the gnomAD database. This frequency is not significantly higher than estimated for a pathogenic variant in BRCA1 causing Hereditary Breast And Ovarian Cancer Syndrome (5.2e-05 vs 0.001), allowing no conclusion about variant significance. c.4837A>T has been reported in the literature in individuals affected with Breast And Ovarian Cancer Syndrome (Majdak_2005, D'Argenio_2015, Cifuentes-C_2019, Cecener_2020). These report(s) do not provide unequivocal conclusions about association of the variant with Hereditary Breast And Ovarian Cancer Syndrome. At least one publication reports experimental evidence evaluating an impact on protein function and showed that this variant is likely not pathogenic (Woods_2016, Fernandes_2019). The following publications have been ascertained in the context of this evaluation (PMID: 18992264, 31706072, 32284662, 15004537, 25896959, 30765603, 15617999, 9326340, 15350310, 28781887). ClinVar contains an entry for this variant (Variation ID: 37613). Based on the evidence outlined above, the variant was classified as likely benign.

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

Last Updated: Jun 2, 2024