NM_007294.4(BRCA1):c.4639T>A (p.Leu1547Met) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 11, 2019
- Review status:
- 1 star out of maximum of 4 starscriteria provided, single submitter
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV001022824.4
Allele description [Variation Report for NM_007294.4(BRCA1):c.4639T>A (p.Leu1547Met)]
NM_007294.4(BRCA1):c.4639T>A (p.Leu1547Met)
- 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.4639T>A (p.Leu1547Met)
- Other names:
- p.L1547M:TTG>ATG
- HGVS:
- NC_000017.11:g.43074367A>T
- NG_005905.2:g.143617T>A
- NM_001407571.1:c.4426T>A
- NM_001407581.1:c.4705T>A
- NM_001407582.1:c.4705T>A
- NM_001407583.1:c.4702T>A
- NM_001407585.1:c.4702T>A
- NM_001407587.1:c.4702T>A
- NM_001407590.1:c.4699T>A
- NM_001407591.1:c.4699T>A
- NM_001407593.1:c.4639T>A
- NM_001407594.1:c.4639T>A
- NM_001407596.1:c.4639T>A
- NM_001407597.1:c.4639T>A
- NM_001407598.1:c.4639T>A
- NM_001407602.1:c.4639T>A
- NM_001407603.1:c.4639T>A
- NM_001407605.1:c.4639T>A
- NM_001407610.1:c.4636T>A
- NM_001407611.1:c.4636T>A
- NM_001407612.1:c.4636T>A
- NM_001407613.1:c.4636T>A
- NM_001407614.1:c.4636T>A
- NM_001407615.1:c.4636T>A
- NM_001407616.1:c.4636T>A
- NM_001407617.1:c.4636T>A
- NM_001407618.1:c.4636T>A
- NM_001407619.1:c.4636T>A
- NM_001407620.1:c.4636T>A
- NM_001407621.1:c.4636T>A
- NM_001407622.1:c.4636T>A
- NM_001407623.1:c.4636T>A
- NM_001407624.1:c.4636T>A
- NM_001407625.1:c.4636T>A
- NM_001407626.1:c.4636T>A
- NM_001407627.1:c.4633T>A
- NM_001407628.1:c.4633T>A
- NM_001407629.1:c.4633T>A
- NM_001407630.1:c.4633T>A
- NM_001407631.1:c.4633T>A
- NM_001407632.1:c.4633T>A
- NM_001407633.1:c.4633T>A
- NM_001407634.1:c.4633T>A
- NM_001407635.1:c.4633T>A
- NM_001407636.1:c.4633T>A
- NM_001407637.1:c.4633T>A
- NM_001407638.1:c.4633T>A
- NM_001407639.1:c.4633T>A
- NM_001407640.1:c.4633T>A
- NM_001407641.1:c.4633T>A
- NM_001407642.1:c.4633T>A
- NM_001407644.1:c.4630T>A
- NM_001407645.1:c.4630T>A
- NM_001407646.1:c.4627T>A
- NM_001407647.1:c.4624T>A
- NM_001407648.1:c.4582T>A
- NM_001407649.1:c.4579T>A
- NM_001407652.1:c.4639T>A
- NM_001407653.1:c.4561T>A
- NM_001407654.1:c.4561T>A
- NM_001407655.1:c.4561T>A
- NM_001407656.1:c.4558T>A
- NM_001407657.1:c.4558T>A
- NM_001407658.1:c.4558T>A
- NM_001407659.1:c.4555T>A
- NM_001407660.1:c.4555T>A
- NM_001407661.1:c.4555T>A
- NM_001407662.1:c.4555T>A
- NM_001407663.1:c.4555T>A
- NM_001407664.1:c.4516T>A
- NM_001407665.1:c.4516T>A
- NM_001407666.1:c.4516T>A
- NM_001407667.1:c.4516T>A
- NM_001407668.1:c.4516T>A
- NM_001407669.1:c.4516T>A
- NM_001407670.1:c.4513T>A
- NM_001407671.1:c.4513T>A
- NM_001407672.1:c.4513T>A
- NM_001407673.1:c.4513T>A
- NM_001407674.1:c.4513T>A
- NM_001407675.1:c.4513T>A
- NM_001407676.1:c.4513T>A
- NM_001407677.1:c.4513T>A
- NM_001407678.1:c.4513T>A
- NM_001407679.1:c.4513T>A
- NM_001407680.1:c.4513T>A
- NM_001407681.1:c.4510T>A
- NM_001407682.1:c.4510T>A
- NM_001407683.1:c.4510T>A
- NM_001407684.1:c.4639T>A
- NM_001407685.1:c.4510T>A
- NM_001407686.1:c.4510T>A
- NM_001407687.1:c.4510T>A
- NM_001407688.1:c.4510T>A
- NM_001407689.1:c.4510T>A
- NM_001407690.1:c.4507T>A
- NM_001407691.1:c.4507T>A
- NM_001407692.1:c.4498T>A
- NM_001407694.1:c.4498T>A
- NM_001407695.1:c.4498T>A
- NM_001407696.1:c.4498T>A
- NM_001407697.1:c.4498T>A
- NM_001407698.1:c.4498T>A
- NM_001407724.1:c.4498T>A
- NM_001407725.1:c.4498T>A
- NM_001407726.1:c.4498T>A
- NM_001407727.1:c.4498T>A
- NM_001407728.1:c.4498T>A
- NM_001407729.1:c.4498T>A
- NM_001407730.1:c.4498T>A
- NM_001407731.1:c.4498T>A
- NM_001407732.1:c.4495T>A
- NM_001407733.1:c.4495T>A
- NM_001407734.1:c.4495T>A
- NM_001407735.1:c.4495T>A
- NM_001407736.1:c.4495T>A
- NM_001407737.1:c.4495T>A
- NM_001407738.1:c.4495T>A
- NM_001407739.1:c.4495T>A
- NM_001407740.1:c.4495T>A
- NM_001407741.1:c.4495T>A
- NM_001407742.1:c.4495T>A
- NM_001407743.1:c.4495T>A
- NM_001407744.1:c.4495T>A
- NM_001407745.1:c.4495T>A
- NM_001407746.1:c.4495T>A
- NM_001407747.1:c.4495T>A
- NM_001407748.1:c.4495T>A
- NM_001407749.1:c.4495T>A
- NM_001407750.1:c.4495T>A
- NM_001407751.1:c.4495T>A
- NM_001407752.1:c.4495T>A
- NM_001407838.1:c.4492T>A
- NM_001407839.1:c.4492T>A
- NM_001407841.1:c.4492T>A
- NM_001407842.1:c.4492T>A
- NM_001407843.1:c.4492T>A
- NM_001407844.1:c.4492T>A
- NM_001407845.1:c.4492T>A
- NM_001407846.1:c.4492T>A
- NM_001407847.1:c.4492T>A
- NM_001407848.1:c.4492T>A
- NM_001407849.1:c.4492T>A
- NM_001407850.1:c.4492T>A
- NM_001407851.1:c.4492T>A
- NM_001407852.1:c.4492T>A
- NM_001407853.1:c.4492T>A
- NM_001407854.1:c.4639T>A
- NM_001407858.1:c.4636T>A
- NM_001407859.1:c.4636T>A
- NM_001407860.1:c.4636T>A
- NM_001407861.1:c.4633T>A
- NM_001407862.1:c.4438T>A
- NM_001407863.1:c.4513T>A
- NM_001407874.1:c.4432T>A
- NM_001407875.1:c.4432T>A
- NM_001407879.1:c.4429T>A
- NM_001407881.1:c.4429T>A
- NM_001407882.1:c.4429T>A
- NM_001407884.1:c.4429T>A
- NM_001407885.1:c.4429T>A
- NM_001407886.1:c.4429T>A
- NM_001407887.1:c.4429T>A
- NM_001407889.1:c.4429T>A
- NM_001407894.1:c.4426T>A
- NM_001407895.1:c.4426T>A
- NM_001407896.1:c.4426T>A
- NM_001407897.1:c.4426T>A
- NM_001407898.1:c.4426T>A
- NM_001407899.1:c.4426T>A
- NM_001407900.1:c.4426T>A
- NM_001407902.1:c.4426T>A
- NM_001407904.1:c.4426T>A
- NM_001407906.1:c.4426T>A
- NM_001407907.1:c.4426T>A
- NM_001407908.1:c.4426T>A
- NM_001407909.1:c.4426T>A
- NM_001407910.1:c.4426T>A
- NM_001407915.1:c.4423T>A
- NM_001407916.1:c.4423T>A
- NM_001407917.1:c.4423T>A
- NM_001407918.1:c.4423T>A
- NM_001407919.1:c.4516T>A
- NM_001407920.1:c.4375T>A
- NM_001407921.1:c.4375T>A
- NM_001407922.1:c.4375T>A
- NM_001407923.1:c.4375T>A
- NM_001407924.1:c.4375T>A
- NM_001407925.1:c.4375T>A
- NM_001407926.1:c.4375T>A
- NM_001407927.1:c.4372T>A
- NM_001407928.1:c.4372T>A
- NM_001407929.1:c.4372T>A
- NM_001407930.1:c.4372T>A
- NM_001407931.1:c.4372T>A
- NM_001407932.1:c.4372T>A
- NM_001407933.1:c.4372T>A
- NM_001407934.1:c.4369T>A
- NM_001407935.1:c.4369T>A
- NM_001407936.1:c.4369T>A
- NM_001407937.1:c.4516T>A
- NM_001407938.1:c.4516T>A
- NM_001407939.1:c.4513T>A
- NM_001407940.1:c.4513T>A
- NM_001407941.1:c.4510T>A
- NM_001407942.1:c.4498T>A
- NM_001407943.1:c.4495T>A
- NM_001407944.1:c.4495T>A
- NM_001407945.1:c.4495T>A
- NM_001407946.1:c.4306T>A
- NM_001407947.1:c.4306T>A
- NM_001407948.1:c.4306T>A
- NM_001407949.1:c.4306T>A
- NM_001407950.1:c.4303T>A
- NM_001407951.1:c.4303T>A
- NM_001407952.1:c.4303T>A
- NM_001407953.1:c.4303T>A
- NM_001407954.1:c.4303T>A
- NM_001407955.1:c.4303T>A
- NM_001407956.1:c.4300T>A
- NM_001407957.1:c.4300T>A
- NM_001407958.1:c.4300T>A
- NM_001407959.1:c.4258T>A
- NM_001407960.1:c.4255T>A
- NM_001407962.1:c.4255T>A
- NM_001407963.1:c.4252T>A
- NM_001407965.1:c.4132T>A
- NM_001407966.1:c.3751T>A
- NM_001407967.1:c.3748T>A
- NM_001407968.1:c.2035T>A
- NM_001407969.1:c.2032T>A
- NM_001407970.1:c.1396T>A
- NM_001407971.1:c.1396T>A
- NM_001407972.1:c.1393T>A
- NM_001407973.1:c.1330T>A
- NM_001407974.1:c.1330T>A
- NM_001407975.1:c.1330T>A
- NM_001407976.1:c.1330T>A
- NM_001407977.1:c.1330T>A
- NM_001407978.1:c.1330T>A
- NM_001407979.1:c.1327T>A
- NM_001407980.1:c.1327T>A
- NM_001407981.1:c.1327T>A
- NM_001407982.1:c.1327T>A
- NM_001407983.1:c.1327T>A
- NM_001407984.1:c.1327T>A
- NM_001407985.1:c.1327T>A
- NM_001407986.1:c.1327T>A
- NM_001407990.1:c.1327T>A
- NM_001407991.1:c.1327T>A
- NM_001407992.1:c.1327T>A
- NM_001407993.1:c.1327T>A
- NM_001408392.1:c.1324T>A
- NM_001408396.1:c.1324T>A
- NM_001408397.1:c.1324T>A
- NM_001408398.1:c.1324T>A
- NM_001408399.1:c.1324T>A
- NM_001408400.1:c.1324T>A
- NM_001408401.1:c.1324T>A
- NM_001408402.1:c.1324T>A
- NM_001408403.1:c.1324T>A
- NM_001408404.1:c.1324T>A
- NM_001408406.1:c.1321T>A
- NM_001408407.1:c.1321T>A
- NM_001408408.1:c.1321T>A
- NM_001408409.1:c.1318T>A
- NM_001408410.1:c.1255T>A
- NM_001408411.1:c.1252T>A
- NM_001408412.1:c.1249T>A
- NM_001408413.1:c.1249T>A
- NM_001408414.1:c.1249T>A
- NM_001408415.1:c.1249T>A
- NM_001408416.1:c.1249T>A
- NM_001408418.1:c.1213T>A
- NM_001408419.1:c.1213T>A
- NM_001408420.1:c.1213T>A
- NM_001408421.1:c.1210T>A
- NM_001408422.1:c.1210T>A
- NM_001408423.1:c.1210T>A
- NM_001408424.1:c.1210T>A
- NM_001408425.1:c.1207T>A
- NM_001408426.1:c.1207T>A
- NM_001408427.1:c.1207T>A
- NM_001408428.1:c.1207T>A
- NM_001408429.1:c.1207T>A
- NM_001408430.1:c.1207T>A
- NM_001408431.1:c.1207T>A
- NM_001408432.1:c.1204T>A
- NM_001408433.1:c.1204T>A
- NM_001408434.1:c.1204T>A
- NM_001408435.1:c.1204T>A
- NM_001408436.1:c.1204T>A
- NM_001408437.1:c.1204T>A
- NM_001408438.1:c.1204T>A
- NM_001408439.1:c.1204T>A
- NM_001408440.1:c.1204T>A
- NM_001408441.1:c.1204T>A
- NM_001408442.1:c.1204T>A
- NM_001408443.1:c.1204T>A
- NM_001408444.1:c.1204T>A
- NM_001408445.1:c.1201T>A
- NM_001408446.1:c.1201T>A
- NM_001408447.1:c.1201T>A
- NM_001408448.1:c.1201T>A
- NM_001408450.1:c.1201T>A
- NM_001408451.1:c.1195T>A
- NM_001408452.1:c.1189T>A
- NM_001408453.1:c.1189T>A
- NM_001408454.1:c.1189T>A
- NM_001408455.1:c.1189T>A
- NM_001408456.1:c.1189T>A
- NM_001408457.1:c.1189T>A
- NM_001408458.1:c.1186T>A
- NM_001408459.1:c.1186T>A
- NM_001408460.1:c.1186T>A
- NM_001408461.1:c.1186T>A
- NM_001408462.1:c.1186T>A
- NM_001408463.1:c.1186T>A
- NM_001408464.1:c.1186T>A
- NM_001408465.1:c.1186T>A
- NM_001408466.1:c.1186T>A
- NM_001408467.1:c.1186T>A
- NM_001408468.1:c.1183T>A
- NM_001408469.1:c.1183T>A
- NM_001408470.1:c.1183T>A
- NM_001408472.1:c.1327T>A
- NM_001408473.1:c.1324T>A
- NM_001408474.1:c.1129T>A
- NM_001408475.1:c.1126T>A
- NM_001408476.1:c.1126T>A
- NM_001408478.1:c.1120T>A
- NM_001408479.1:c.1120T>A
- NM_001408480.1:c.1120T>A
- NM_001408481.1:c.1117T>A
- NM_001408482.1:c.1117T>A
- NM_001408483.1:c.1117T>A
- NM_001408484.1:c.1117T>A
- NM_001408485.1:c.1117T>A
- NM_001408489.1:c.1117T>A
- NM_001408490.1:c.1117T>A
- NM_001408491.1:c.1117T>A
- NM_001408492.1:c.1114T>A
- NM_001408493.1:c.1114T>A
- NM_001408494.1:c.1090T>A
- NM_001408495.1:c.1084T>A
- NM_001408496.1:c.1066T>A
- NM_001408497.1:c.1066T>A
- NM_001408498.1:c.1066T>A
- NM_001408499.1:c.1066T>A
- NM_001408500.1:c.1066T>A
- NM_001408501.1:c.1066T>A
- NM_001408502.1:c.1063T>A
- NM_001408503.1:c.1063T>A
- NM_001408504.1:c.1063T>A
- NM_001408505.1:c.1060T>A
- NM_001408506.1:c.1003T>A
- NM_001408507.1:c.1000T>A
- NM_001408508.1:c.991T>A
- NM_001408509.1:c.988T>A
- NM_001408510.1:c.949T>A
- NM_001408511.1:c.946T>A
- NM_001408512.1:c.826T>A
- NM_007294.4:c.4639T>AMANE SELECT
- NM_007297.4:c.4498T>A
- NM_007298.4:c.1327T>A
- NM_007299.4:c.1327T>A
- NM_007300.4:c.4702T>A
- NM_007304.2:c.1327T>A
- NP_001394500.1:p.Leu1476Met
- NP_001394510.1:p.Leu1569Met
- NP_001394511.1:p.Leu1569Met
- NP_001394512.1:p.Leu1568Met
- NP_001394514.1:p.Leu1568Met
- NP_001394516.1:p.Leu1568Met
- NP_001394519.1:p.Leu1567Met
- NP_001394520.1:p.Leu1567Met
- NP_001394522.1:p.Leu1547Met
- NP_001394523.1:p.Leu1547Met
- NP_001394525.1:p.Leu1547Met
- NP_001394526.1:p.Leu1547Met
- NP_001394527.1:p.Leu1547Met
- NP_001394531.1:p.Leu1547Met
- NP_001394532.1:p.Leu1547Met
- NP_001394534.1:p.Leu1547Met
- NP_001394539.1:p.Leu1546Met
- NP_001394540.1:p.Leu1546Met
- NP_001394541.1:p.Leu1546Met
- NP_001394542.1:p.Leu1546Met
- NP_001394543.1:p.Leu1546Met
- NP_001394544.1:p.Leu1546Met
- NP_001394545.1:p.Leu1546Met
- NP_001394546.1:p.Leu1546Met
- NP_001394547.1:p.Leu1546Met
- NP_001394548.1:p.Leu1546Met
- NP_001394549.1:p.Leu1546Met
- NP_001394550.1:p.Leu1546Met
- NP_001394551.1:p.Leu1546Met
- NP_001394552.1:p.Leu1546Met
- NP_001394553.1:p.Leu1546Met
- NP_001394554.1:p.Leu1546Met
- NP_001394555.1:p.Leu1546Met
- NP_001394556.1:p.Leu1545Met
- NP_001394557.1:p.Leu1545Met
- NP_001394558.1:p.Leu1545Met
- NP_001394559.1:p.Leu1545Met
- NP_001394560.1:p.Leu1545Met
- NP_001394561.1:p.Leu1545Met
- NP_001394562.1:p.Leu1545Met
- NP_001394563.1:p.Leu1545Met
- NP_001394564.1:p.Leu1545Met
- NP_001394565.1:p.Leu1545Met
- NP_001394566.1:p.Leu1545Met
- NP_001394567.1:p.Leu1545Met
- NP_001394568.1:p.Leu1545Met
- NP_001394569.1:p.Leu1545Met
- NP_001394570.1:p.Leu1545Met
- NP_001394571.1:p.Leu1545Met
- NP_001394573.1:p.Leu1544Met
- NP_001394574.1:p.Leu1544Met
- NP_001394575.1:p.Leu1543Met
- NP_001394576.1:p.Leu1542Met
- NP_001394577.1:p.Leu1528Met
- NP_001394578.1:p.Leu1527Met
- NP_001394581.1:p.Leu1547Met
- NP_001394582.1:p.Leu1521Met
- NP_001394583.1:p.Leu1521Met
- NP_001394584.1:p.Leu1521Met
- NP_001394585.1:p.Leu1520Met
- NP_001394586.1:p.Leu1520Met
- NP_001394587.1:p.Leu1520Met
- NP_001394588.1:p.Leu1519Met
- NP_001394589.1:p.Leu1519Met
- NP_001394590.1:p.Leu1519Met
- NP_001394591.1:p.Leu1519Met
- NP_001394592.1:p.Leu1519Met
- NP_001394593.1:p.Leu1506Met
- NP_001394594.1:p.Leu1506Met
- NP_001394595.1:p.Leu1506Met
- NP_001394596.1:p.Leu1506Met
- NP_001394597.1:p.Leu1506Met
- NP_001394598.1:p.Leu1506Met
- NP_001394599.1:p.Leu1505Met
- NP_001394600.1:p.Leu1505Met
- NP_001394601.1:p.Leu1505Met
- NP_001394602.1:p.Leu1505Met
- NP_001394603.1:p.Leu1505Met
- NP_001394604.1:p.Leu1505Met
- NP_001394605.1:p.Leu1505Met
- NP_001394606.1:p.Leu1505Met
- NP_001394607.1:p.Leu1505Met
- NP_001394608.1:p.Leu1505Met
- NP_001394609.1:p.Leu1505Met
- NP_001394610.1:p.Leu1504Met
- NP_001394611.1:p.Leu1504Met
- NP_001394612.1:p.Leu1504Met
- NP_001394613.1:p.Leu1547Met
- NP_001394614.1:p.Leu1504Met
- NP_001394615.1:p.Leu1504Met
- NP_001394616.1:p.Leu1504Met
- NP_001394617.1:p.Leu1504Met
- NP_001394618.1:p.Leu1504Met
- NP_001394619.1:p.Leu1503Met
- NP_001394620.1:p.Leu1503Met
- NP_001394621.1:p.Leu1500Met
- NP_001394623.1:p.Leu1500Met
- NP_001394624.1:p.Leu1500Met
- NP_001394625.1:p.Leu1500Met
- NP_001394626.1:p.Leu1500Met
- NP_001394627.1:p.Leu1500Met
- NP_001394653.1:p.Leu1500Met
- NP_001394654.1:p.Leu1500Met
- NP_001394655.1:p.Leu1500Met
- NP_001394656.1:p.Leu1500Met
- NP_001394657.1:p.Leu1500Met
- NP_001394658.1:p.Leu1500Met
- NP_001394659.1:p.Leu1500Met
- NP_001394660.1:p.Leu1500Met
- NP_001394661.1:p.Leu1499Met
- NP_001394662.1:p.Leu1499Met
- NP_001394663.1:p.Leu1499Met
- NP_001394664.1:p.Leu1499Met
- NP_001394665.1:p.Leu1499Met
- NP_001394666.1:p.Leu1499Met
- NP_001394667.1:p.Leu1499Met
- NP_001394668.1:p.Leu1499Met
- NP_001394669.1:p.Leu1499Met
- NP_001394670.1:p.Leu1499Met
- NP_001394671.1:p.Leu1499Met
- NP_001394672.1:p.Leu1499Met
- NP_001394673.1:p.Leu1499Met
- NP_001394674.1:p.Leu1499Met
- NP_001394675.1:p.Leu1499Met
- NP_001394676.1:p.Leu1499Met
- NP_001394677.1:p.Leu1499Met
- NP_001394678.1:p.Leu1499Met
- NP_001394679.1:p.Leu1499Met
- NP_001394680.1:p.Leu1499Met
- NP_001394681.1:p.Leu1499Met
- NP_001394767.1:p.Leu1498Met
- NP_001394768.1:p.Leu1498Met
- NP_001394770.1:p.Leu1498Met
- NP_001394771.1:p.Leu1498Met
- NP_001394772.1:p.Leu1498Met
- NP_001394773.1:p.Leu1498Met
- NP_001394774.1:p.Leu1498Met
- NP_001394775.1:p.Leu1498Met
- NP_001394776.1:p.Leu1498Met
- NP_001394777.1:p.Leu1498Met
- NP_001394778.1:p.Leu1498Met
- NP_001394779.1:p.Leu1498Met
- NP_001394780.1:p.Leu1498Met
- NP_001394781.1:p.Leu1498Met
- NP_001394782.1:p.Leu1498Met
- NP_001394783.1:p.Leu1547Met
- NP_001394787.1:p.Leu1546Met
- NP_001394788.1:p.Leu1546Met
- NP_001394789.1:p.Leu1546Met
- NP_001394790.1:p.Leu1545Met
- NP_001394791.1:p.Leu1480Met
- NP_001394792.1:p.Leu1505Met
- NP_001394803.1:p.Leu1478Met
- NP_001394804.1:p.Leu1478Met
- NP_001394808.1:p.Leu1477Met
- NP_001394810.1:p.Leu1477Met
- NP_001394811.1:p.Leu1477Met
- NP_001394813.1:p.Leu1477Met
- NP_001394814.1:p.Leu1477Met
- NP_001394815.1:p.Leu1477Met
- NP_001394816.1:p.Leu1477Met
- NP_001394818.1:p.Leu1477Met
- NP_001394823.1:p.Leu1476Met
- NP_001394824.1:p.Leu1476Met
- NP_001394825.1:p.Leu1476Met
- NP_001394826.1:p.Leu1476Met
- NP_001394827.1:p.Leu1476Met
- NP_001394828.1:p.Leu1476Met
- NP_001394829.1:p.Leu1476Met
- NP_001394831.1:p.Leu1476Met
- NP_001394833.1:p.Leu1476Met
- NP_001394835.1:p.Leu1476Met
- NP_001394836.1:p.Leu1476Met
- NP_001394837.1:p.Leu1476Met
- NP_001394838.1:p.Leu1476Met
- NP_001394839.1:p.Leu1476Met
- NP_001394844.1:p.Leu1475Met
- NP_001394845.1:p.Leu1475Met
- NP_001394846.1:p.Leu1475Met
- NP_001394847.1:p.Leu1475Met
- NP_001394848.1:p.Leu1506Met
- NP_001394849.1:p.Leu1459Met
- NP_001394850.1:p.Leu1459Met
- NP_001394851.1:p.Leu1459Met
- NP_001394852.1:p.Leu1459Met
- NP_001394853.1:p.Leu1459Met
- NP_001394854.1:p.Leu1459Met
- NP_001394855.1:p.Leu1459Met
- NP_001394856.1:p.Leu1458Met
- NP_001394857.1:p.Leu1458Met
- NP_001394858.1:p.Leu1458Met
- NP_001394859.1:p.Leu1458Met
- NP_001394860.1:p.Leu1458Met
- NP_001394861.1:p.Leu1458Met
- NP_001394862.1:p.Leu1458Met
- NP_001394863.1:p.Leu1457Met
- NP_001394864.1:p.Leu1457Met
- NP_001394865.1:p.Leu1457Met
- NP_001394866.1:p.Leu1506Met
- NP_001394867.1:p.Leu1506Met
- NP_001394868.1:p.Leu1505Met
- NP_001394869.1:p.Leu1505Met
- NP_001394870.1:p.Leu1504Met
- NP_001394871.1:p.Leu1500Met
- NP_001394872.1:p.Leu1499Met
- NP_001394873.1:p.Leu1499Met
- NP_001394874.1:p.Leu1499Met
- NP_001394875.1:p.Leu1436Met
- NP_001394876.1:p.Leu1436Met
- NP_001394877.1:p.Leu1436Met
- NP_001394878.1:p.Leu1436Met
- NP_001394879.1:p.Leu1435Met
- NP_001394880.1:p.Leu1435Met
- NP_001394881.1:p.Leu1435Met
- NP_001394882.1:p.Leu1435Met
- NP_001394883.1:p.Leu1435Met
- NP_001394884.1:p.Leu1435Met
- NP_001394885.1:p.Leu1434Met
- NP_001394886.1:p.Leu1434Met
- NP_001394887.1:p.Leu1434Met
- NP_001394888.1:p.Leu1420Met
- NP_001394889.1:p.Leu1419Met
- NP_001394891.1:p.Leu1419Met
- NP_001394892.1:p.Leu1418Met
- NP_001394894.1:p.Leu1378Met
- NP_001394895.1:p.Leu1251Met
- NP_001394896.1:p.Leu1250Met
- NP_001394897.1:p.Leu679Met
- NP_001394898.1:p.Leu678Met
- NP_001394899.1:p.Leu466Met
- NP_001394900.1:p.Leu466Met
- NP_001394901.1:p.Leu465Met
- NP_001394902.1:p.Leu444Met
- NP_001394903.1:p.Leu444Met
- NP_001394904.1:p.Leu444Met
- NP_001394905.1:p.Leu444Met
- NP_001394906.1:p.Leu444Met
- NP_001394907.1:p.Leu444Met
- NP_001394908.1:p.Leu443Met
- NP_001394909.1:p.Leu443Met
- NP_001394910.1:p.Leu443Met
- NP_001394911.1:p.Leu443Met
- NP_001394912.1:p.Leu443Met
- NP_001394913.1:p.Leu443Met
- NP_001394914.1:p.Leu443Met
- NP_001394915.1:p.Leu443Met
- NP_001394919.1:p.Leu443Met
- NP_001394920.1:p.Leu443Met
- NP_001394921.1:p.Leu443Met
- NP_001394922.1:p.Leu443Met
- NP_001395321.1:p.Leu442Met
- NP_001395325.1:p.Leu442Met
- NP_001395326.1:p.Leu442Met
- NP_001395327.1:p.Leu442Met
- NP_001395328.1:p.Leu442Met
- NP_001395329.1:p.Leu442Met
- NP_001395330.1:p.Leu442Met
- NP_001395331.1:p.Leu442Met
- NP_001395332.1:p.Leu442Met
- NP_001395333.1:p.Leu442Met
- NP_001395335.1:p.Leu441Met
- NP_001395336.1:p.Leu441Met
- NP_001395337.1:p.Leu441Met
- NP_001395338.1:p.Leu440Met
- NP_001395339.1:p.Leu419Met
- NP_001395340.1:p.Leu418Met
- NP_001395341.1:p.Leu417Met
- NP_001395342.1:p.Leu417Met
- NP_001395343.1:p.Leu417Met
- NP_001395344.1:p.Leu417Met
- NP_001395345.1:p.Leu417Met
- NP_001395347.1:p.Leu405Met
- NP_001395348.1:p.Leu405Met
- NP_001395349.1:p.Leu405Met
- NP_001395350.1:p.Leu404Met
- NP_001395351.1:p.Leu404Met
- NP_001395352.1:p.Leu404Met
- NP_001395353.1:p.Leu404Met
- NP_001395354.1:p.Leu403Met
- NP_001395355.1:p.Leu403Met
- NP_001395356.1:p.Leu403Met
- NP_001395357.1:p.Leu403Met
- NP_001395358.1:p.Leu403Met
- NP_001395359.1:p.Leu403Met
- NP_001395360.1:p.Leu403Met
- NP_001395361.1:p.Leu402Met
- NP_001395362.1:p.Leu402Met
- NP_001395363.1:p.Leu402Met
- NP_001395364.1:p.Leu402Met
- NP_001395365.1:p.Leu402Met
- NP_001395366.1:p.Leu402Met
- NP_001395367.1:p.Leu402Met
- NP_001395368.1:p.Leu402Met
- NP_001395369.1:p.Leu402Met
- NP_001395370.1:p.Leu402Met
- NP_001395371.1:p.Leu402Met
- NP_001395372.1:p.Leu402Met
- NP_001395373.1:p.Leu402Met
- NP_001395374.1:p.Leu401Met
- NP_001395375.1:p.Leu401Met
- NP_001395376.1:p.Leu401Met
- NP_001395377.1:p.Leu401Met
- NP_001395379.1:p.Leu401Met
- NP_001395380.1:p.Leu399Met
- NP_001395381.1:p.Leu397Met
- NP_001395382.1:p.Leu397Met
- NP_001395383.1:p.Leu397Met
- NP_001395384.1:p.Leu397Met
- NP_001395385.1:p.Leu397Met
- NP_001395386.1:p.Leu397Met
- NP_001395387.1:p.Leu396Met
- NP_001395388.1:p.Leu396Met
- NP_001395389.1:p.Leu396Met
- NP_001395390.1:p.Leu396Met
- NP_001395391.1:p.Leu396Met
- NP_001395392.1:p.Leu396Met
- NP_001395393.1:p.Leu396Met
- NP_001395394.1:p.Leu396Met
- NP_001395395.1:p.Leu396Met
- NP_001395396.1:p.Leu396Met
- NP_001395397.1:p.Leu395Met
- NP_001395398.1:p.Leu395Met
- NP_001395399.1:p.Leu395Met
- NP_001395401.1:p.Leu443Met
- NP_001395402.1:p.Leu442Met
- NP_001395403.1:p.Leu377Met
- NP_001395404.1:p.Leu376Met
- NP_001395405.1:p.Leu376Met
- NP_001395407.1:p.Leu374Met
- NP_001395408.1:p.Leu374Met
- NP_001395409.1:p.Leu374Met
- NP_001395410.1:p.Leu373Met
- NP_001395411.1:p.Leu373Met
- NP_001395412.1:p.Leu373Met
- NP_001395413.1:p.Leu373Met
- NP_001395414.1:p.Leu373Met
- NP_001395418.1:p.Leu373Met
- NP_001395419.1:p.Leu373Met
- NP_001395420.1:p.Leu373Met
- NP_001395421.1:p.Leu372Met
- NP_001395422.1:p.Leu372Met
- NP_001395423.1:p.Leu364Met
- NP_001395424.1:p.Leu362Met
- NP_001395425.1:p.Leu356Met
- NP_001395426.1:p.Leu356Met
- NP_001395427.1:p.Leu356Met
- NP_001395428.1:p.Leu356Met
- NP_001395429.1:p.Leu356Met
- NP_001395430.1:p.Leu356Met
- NP_001395431.1:p.Leu355Met
- NP_001395432.1:p.Leu355Met
- NP_001395433.1:p.Leu355Met
- NP_001395434.1:p.Leu354Met
- NP_001395435.1:p.Leu335Met
- NP_001395436.1:p.Leu334Met
- NP_001395437.1:p.Leu331Met
- NP_001395438.1:p.Leu330Met
- NP_001395439.1:p.Leu317Met
- NP_001395440.1:p.Leu316Met
- NP_001395441.1:p.Leu276Met
- NP_009225.1:p.Leu1547Met
- NP_009225.1:p.Leu1547Met
- NP_009228.2:p.Leu1500Met
- NP_009229.2:p.Leu443Met
- NP_009229.2:p.Leu443Met
- NP_009230.2:p.Leu443Met
- NP_009231.2:p.Leu1568Met
- NP_009235.2:p.Leu443Met
- LRG_292t1:c.4639T>A
- LRG_292:g.143617T>A
- LRG_292p1:p.Leu1547Met
- NC_000017.10:g.41226384A>T
- NM_007294.3:c.4639T>A
- NM_007298.3:c.1327T>A
- NR_027676.2:n.4816T>A
This HGVS expression did not pass validation- Protein change:
- L1250M
- Links:
- dbSNP: rs730881492
- NCBI 1000 Genomes Browser:
- rs730881492
- Molecular consequence:
- NM_001407571.1:c.4426T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407581.1:c.4705T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407582.1:c.4705T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407583.1:c.4702T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407585.1:c.4702T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407587.1:c.4702T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407590.1:c.4699T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407591.1:c.4699T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407593.1:c.4639T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407594.1:c.4639T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407596.1:c.4639T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407597.1:c.4639T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407598.1:c.4639T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407602.1:c.4639T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407603.1:c.4639T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407605.1:c.4639T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407610.1:c.4636T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407611.1:c.4636T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407612.1:c.4636T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407613.1:c.4636T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407614.1:c.4636T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407615.1:c.4636T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407616.1:c.4636T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407617.1:c.4636T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407618.1:c.4636T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407619.1:c.4636T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407620.1:c.4636T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407621.1:c.4636T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407622.1:c.4636T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407623.1:c.4636T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407624.1:c.4636T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407625.1:c.4636T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407626.1:c.4636T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407627.1:c.4633T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407628.1:c.4633T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407629.1:c.4633T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407630.1:c.4633T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407631.1:c.4633T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407632.1:c.4633T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407633.1:c.4633T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407634.1:c.4633T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407635.1:c.4633T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407636.1:c.4633T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407637.1:c.4633T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407638.1:c.4633T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407639.1:c.4633T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407640.1:c.4633T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407641.1:c.4633T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407642.1:c.4633T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407644.1:c.4630T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407645.1:c.4630T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407646.1:c.4627T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407647.1:c.4624T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407648.1:c.4582T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407649.1:c.4579T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407652.1:c.4639T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407653.1:c.4561T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407654.1:c.4561T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407655.1:c.4561T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407656.1:c.4558T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407657.1:c.4558T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407658.1:c.4558T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407659.1:c.4555T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407660.1:c.4555T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407661.1:c.4555T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407662.1:c.4555T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407663.1:c.4555T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407664.1:c.4516T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407665.1:c.4516T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407666.1:c.4516T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407667.1:c.4516T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407668.1:c.4516T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407669.1:c.4516T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407670.1:c.4513T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407671.1:c.4513T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407672.1:c.4513T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407673.1:c.4513T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407674.1:c.4513T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407675.1:c.4513T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407676.1:c.4513T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407677.1:c.4513T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407678.1:c.4513T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407679.1:c.4513T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407680.1:c.4513T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407681.1:c.4510T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407682.1:c.4510T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407683.1:c.4510T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407684.1:c.4639T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407685.1:c.4510T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407686.1:c.4510T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407687.1:c.4510T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407688.1:c.4510T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407689.1:c.4510T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407690.1:c.4507T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407691.1:c.4507T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407692.1:c.4498T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407694.1:c.4498T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407695.1:c.4498T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407696.1:c.4498T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407697.1:c.4498T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407698.1:c.4498T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407724.1:c.4498T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407725.1:c.4498T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407726.1:c.4498T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407727.1:c.4498T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407728.1:c.4498T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407729.1:c.4498T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407730.1:c.4498T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407731.1:c.4498T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407732.1:c.4495T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407733.1:c.4495T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407734.1:c.4495T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407735.1:c.4495T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407736.1:c.4495T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407737.1:c.4495T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407738.1:c.4495T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407739.1:c.4495T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407740.1:c.4495T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407741.1:c.4495T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407742.1:c.4495T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407743.1:c.4495T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407744.1:c.4495T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407745.1:c.4495T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407746.1:c.4495T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407747.1:c.4495T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407748.1:c.4495T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407749.1:c.4495T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407750.1:c.4495T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407751.1:c.4495T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407752.1:c.4495T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407838.1:c.4492T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407839.1:c.4492T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407841.1:c.4492T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407842.1:c.4492T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407843.1:c.4492T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407844.1:c.4492T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407845.1:c.4492T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407846.1:c.4492T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407847.1:c.4492T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407848.1:c.4492T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407849.1:c.4492T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407850.1:c.4492T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407851.1:c.4492T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407852.1:c.4492T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407853.1:c.4492T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407854.1:c.4639T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407858.1:c.4636T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407859.1:c.4636T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407860.1:c.4636T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407861.1:c.4633T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407862.1:c.4438T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407863.1:c.4513T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407874.1:c.4432T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407875.1:c.4432T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407879.1:c.4429T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407881.1:c.4429T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407882.1:c.4429T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407884.1:c.4429T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407885.1:c.4429T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407886.1:c.4429T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407887.1:c.4429T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407889.1:c.4429T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407894.1:c.4426T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407895.1:c.4426T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407896.1:c.4426T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407897.1:c.4426T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407898.1:c.4426T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407899.1:c.4426T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407900.1:c.4426T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407902.1:c.4426T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407904.1:c.4426T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407906.1:c.4426T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407907.1:c.4426T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407908.1:c.4426T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407909.1:c.4426T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407910.1:c.4426T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407915.1:c.4423T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407916.1:c.4423T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407917.1:c.4423T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407918.1:c.4423T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407919.1:c.4516T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407920.1:c.4375T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407921.1:c.4375T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407922.1:c.4375T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407923.1:c.4375T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407924.1:c.4375T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407925.1:c.4375T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407926.1:c.4375T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407927.1:c.4372T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407928.1:c.4372T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407929.1:c.4372T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407930.1:c.4372T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407931.1:c.4372T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407932.1:c.4372T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407933.1:c.4372T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407934.1:c.4369T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407935.1:c.4369T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407936.1:c.4369T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407937.1:c.4516T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407938.1:c.4516T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407939.1:c.4513T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407940.1:c.4513T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407941.1:c.4510T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407942.1:c.4498T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407943.1:c.4495T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407944.1:c.4495T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407945.1:c.4495T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407946.1:c.4306T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407947.1:c.4306T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407948.1:c.4306T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407949.1:c.4306T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407950.1:c.4303T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407951.1:c.4303T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407952.1:c.4303T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407953.1:c.4303T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407954.1:c.4303T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407955.1:c.4303T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407956.1:c.4300T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407957.1:c.4300T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407958.1:c.4300T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407959.1:c.4258T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407960.1:c.4255T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407962.1:c.4255T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407963.1:c.4252T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407965.1:c.4132T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407966.1:c.3751T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407967.1:c.3748T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407968.1:c.2035T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407969.1:c.2032T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407970.1:c.1396T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407971.1:c.1396T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407972.1:c.1393T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407973.1:c.1330T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407974.1:c.1330T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407975.1:c.1330T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407976.1:c.1330T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407977.1:c.1330T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407978.1:c.1330T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407979.1:c.1327T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407980.1:c.1327T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407981.1:c.1327T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407982.1:c.1327T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407983.1:c.1327T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407984.1:c.1327T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407985.1:c.1327T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407986.1:c.1327T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407990.1:c.1327T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407991.1:c.1327T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407992.1:c.1327T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407993.1:c.1327T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408392.1:c.1324T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408396.1:c.1324T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408397.1:c.1324T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408398.1:c.1324T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408399.1:c.1324T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408400.1:c.1324T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408401.1:c.1324T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408402.1:c.1324T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408403.1:c.1324T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408404.1:c.1324T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408406.1:c.1321T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408407.1:c.1321T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408408.1:c.1321T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408409.1:c.1318T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408410.1:c.1255T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408411.1:c.1252T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408412.1:c.1249T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408413.1:c.1249T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408414.1:c.1249T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408415.1:c.1249T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408416.1:c.1249T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408418.1:c.1213T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408419.1:c.1213T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408420.1:c.1213T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408421.1:c.1210T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408422.1:c.1210T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408423.1:c.1210T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408424.1:c.1210T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408425.1:c.1207T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408426.1:c.1207T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408427.1:c.1207T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408428.1:c.1207T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408429.1:c.1207T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408430.1:c.1207T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408431.1:c.1207T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408432.1:c.1204T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408433.1:c.1204T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408434.1:c.1204T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408435.1:c.1204T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408436.1:c.1204T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408437.1:c.1204T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408438.1:c.1204T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408439.1:c.1204T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408440.1:c.1204T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408441.1:c.1204T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408442.1:c.1204T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408443.1:c.1204T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408444.1:c.1204T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408445.1:c.1201T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408446.1:c.1201T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408447.1:c.1201T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408448.1:c.1201T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408450.1:c.1201T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408451.1:c.1195T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408452.1:c.1189T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408453.1:c.1189T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408454.1:c.1189T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408455.1:c.1189T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408456.1:c.1189T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408457.1:c.1189T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408458.1:c.1186T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408459.1:c.1186T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408460.1:c.1186T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408461.1:c.1186T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408462.1:c.1186T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408463.1:c.1186T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408464.1:c.1186T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408465.1:c.1186T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408466.1:c.1186T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408467.1:c.1186T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408468.1:c.1183T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408469.1:c.1183T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408470.1:c.1183T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408472.1:c.1327T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408473.1:c.1324T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408474.1:c.1129T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408475.1:c.1126T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408476.1:c.1126T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408478.1:c.1120T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408479.1:c.1120T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408480.1:c.1120T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408481.1:c.1117T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408482.1:c.1117T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408483.1:c.1117T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408484.1:c.1117T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408485.1:c.1117T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408489.1:c.1117T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408490.1:c.1117T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408491.1:c.1117T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408492.1:c.1114T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408493.1:c.1114T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408494.1:c.1090T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408495.1:c.1084T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408496.1:c.1066T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408497.1:c.1066T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408498.1:c.1066T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408499.1:c.1066T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408500.1:c.1066T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408501.1:c.1066T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408502.1:c.1063T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408503.1:c.1063T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408504.1:c.1063T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408505.1:c.1060T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408506.1:c.1003T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408507.1:c.1000T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408508.1:c.991T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408509.1:c.988T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408510.1:c.949T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408511.1:c.946T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408512.1:c.826T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_007294.4:c.4639T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_007297.4:c.4498T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_007298.4:c.1327T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_007299.4:c.1327T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_007300.4:c.4702T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_007304.2:c.1327T>A - missense variant - [Sequence Ontology: SO:0001583]
- NR_027676.2:n.4816T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Condition(s)
- Name:
- Hereditary cancer-predisposing syndrome
- Synonyms:
- Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672
-
RecName: Full=Olfactory receptor 4K13; AltName: Full=Olfactory receptor OR14-27
RecName: Full=Olfactory receptor 4K13; AltName: Full=Olfactory receptor OR14-27gi|38372805|sp|Q8NH42.1|OR4KD_HUMANProtein
-
Histone superfamily protein [Arabidopsis thaliana]
Histone superfamily protein [Arabidopsis thaliana]Gene ID:831878Gene
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See more...Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV001184603 | Ambry Genetics | criteria provided, single submitter (Ambry Variant Classification Scheme 2023) | Uncertain significance (Sep 11, 2019) | germline | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing |
Details of each submission
From Ambry Genetics, SCV001184603.4
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
Description
The p.L1547M variant (also known as c.4639T>A), located in coding exon 13 of the BRCA1 gene, results from a T to A substitution at nucleotide position 4639. The leucine at codon 1547 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
Last Updated: Sep 29, 2024