NM_007294.4(BRCA1):c.4853A>G (p.His1618Arg) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 9, 2016
- 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:
- RCV000567085.5
Allele description [Variation Report for NM_007294.4(BRCA1):c.4853A>G (p.His1618Arg)]
NM_007294.4(BRCA1):c.4853A>G (p.His1618Arg)
- 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.4853A>G (p.His1618Arg)
- HGVS:
- NC_000017.11:g.43071061T>C
- NG_005905.2:g.146923A>G
- NM_001407571.1:c.4640A>G
- NM_001407581.1:c.4919A>G
- NM_001407582.1:c.4919A>G
- NM_001407583.1:c.4916A>G
- NM_001407585.1:c.4916A>G
- NM_001407587.1:c.4916A>G
- NM_001407590.1:c.4913A>G
- NM_001407591.1:c.4913A>G
- NM_001407593.1:c.4853A>G
- NM_001407594.1:c.4853A>G
- NM_001407596.1:c.4853A>G
- NM_001407597.1:c.4853A>G
- NM_001407598.1:c.4853A>G
- NM_001407602.1:c.4853A>G
- NM_001407603.1:c.4853A>G
- NM_001407605.1:c.4853A>G
- NM_001407610.1:c.4850A>G
- NM_001407611.1:c.4850A>G
- NM_001407612.1:c.4850A>G
- NM_001407613.1:c.4850A>G
- NM_001407614.1:c.4850A>G
- NM_001407615.1:c.4850A>G
- NM_001407616.1:c.4850A>G
- NM_001407617.1:c.4850A>G
- NM_001407618.1:c.4850A>G
- NM_001407619.1:c.4850A>G
- NM_001407620.1:c.4850A>G
- NM_001407621.1:c.4850A>G
- NM_001407622.1:c.4850A>G
- NM_001407623.1:c.4850A>G
- NM_001407624.1:c.4850A>G
- NM_001407625.1:c.4850A>G
- NM_001407626.1:c.4850A>G
- NM_001407627.1:c.4847A>G
- NM_001407628.1:c.4847A>G
- NM_001407629.1:c.4847A>G
- NM_001407630.1:c.4847A>G
- NM_001407631.1:c.4847A>G
- NM_001407632.1:c.4847A>G
- NM_001407633.1:c.4847A>G
- NM_001407634.1:c.4847A>G
- NM_001407635.1:c.4847A>G
- NM_001407636.1:c.4847A>G
- NM_001407637.1:c.4847A>G
- NM_001407638.1:c.4847A>G
- NM_001407639.1:c.4847A>G
- NM_001407640.1:c.4847A>G
- NM_001407641.1:c.4847A>G
- NM_001407642.1:c.4847A>G
- NM_001407644.1:c.4844A>G
- NM_001407645.1:c.4844A>G
- NM_001407646.1:c.4841A>G
- NM_001407647.1:c.4838A>G
- NM_001407648.1:c.4796A>G
- NM_001407649.1:c.4793A>G
- NM_001407652.1:c.4853A>G
- NM_001407653.1:c.4775A>G
- NM_001407654.1:c.4775A>G
- NM_001407655.1:c.4775A>G
- NM_001407656.1:c.4772A>G
- NM_001407657.1:c.4772A>G
- NM_001407658.1:c.4772A>G
- NM_001407659.1:c.4769A>G
- NM_001407660.1:c.4769A>G
- NM_001407661.1:c.4769A>G
- NM_001407662.1:c.4769A>G
- NM_001407663.1:c.4769A>G
- NM_001407664.1:c.4730A>G
- NM_001407665.1:c.4730A>G
- NM_001407666.1:c.4730A>G
- NM_001407667.1:c.4730A>G
- NM_001407668.1:c.4730A>G
- NM_001407669.1:c.4730A>G
- NM_001407670.1:c.4727A>G
- NM_001407671.1:c.4727A>G
- NM_001407672.1:c.4727A>G
- NM_001407673.1:c.4727A>G
- NM_001407674.1:c.4727A>G
- NM_001407675.1:c.4727A>G
- NM_001407676.1:c.4727A>G
- NM_001407677.1:c.4727A>G
- NM_001407678.1:c.4727A>G
- NM_001407679.1:c.4727A>G
- NM_001407680.1:c.4727A>G
- NM_001407681.1:c.4724A>G
- NM_001407682.1:c.4724A>G
- NM_001407683.1:c.4724A>G
- NM_001407684.1:c.4853A>G
- NM_001407685.1:c.4724A>G
- NM_001407686.1:c.4724A>G
- NM_001407687.1:c.4724A>G
- NM_001407688.1:c.4724A>G
- NM_001407689.1:c.4724A>G
- NM_001407690.1:c.4721A>G
- NM_001407691.1:c.4721A>G
- NM_001407692.1:c.4712A>G
- NM_001407694.1:c.4712A>G
- NM_001407695.1:c.4712A>G
- NM_001407696.1:c.4712A>G
- NM_001407697.1:c.4712A>G
- NM_001407698.1:c.4712A>G
- NM_001407724.1:c.4712A>G
- NM_001407725.1:c.4712A>G
- NM_001407726.1:c.4712A>G
- NM_001407727.1:c.4712A>G
- NM_001407728.1:c.4712A>G
- NM_001407729.1:c.4712A>G
- NM_001407730.1:c.4712A>G
- NM_001407731.1:c.4712A>G
- NM_001407732.1:c.4709A>G
- NM_001407733.1:c.4709A>G
- NM_001407734.1:c.4709A>G
- NM_001407735.1:c.4709A>G
- NM_001407736.1:c.4709A>G
- NM_001407737.1:c.4709A>G
- NM_001407738.1:c.4709A>G
- NM_001407739.1:c.4709A>G
- NM_001407740.1:c.4709A>G
- NM_001407741.1:c.4709A>G
- NM_001407742.1:c.4709A>G
- NM_001407743.1:c.4709A>G
- NM_001407744.1:c.4709A>G
- NM_001407745.1:c.4709A>G
- NM_001407746.1:c.4709A>G
- NM_001407747.1:c.4709A>G
- NM_001407748.1:c.4709A>G
- NM_001407749.1:c.4709A>G
- NM_001407750.1:c.4709A>G
- NM_001407751.1:c.4709A>G
- NM_001407752.1:c.4709A>G
- NM_001407838.1:c.4706A>G
- NM_001407839.1:c.4706A>G
- NM_001407841.1:c.4706A>G
- NM_001407842.1:c.4706A>G
- NM_001407843.1:c.4706A>G
- NM_001407844.1:c.4706A>G
- NM_001407845.1:c.4706A>G
- NM_001407846.1:c.4706A>G
- NM_001407847.1:c.4706A>G
- NM_001407848.1:c.4706A>G
- NM_001407849.1:c.4706A>G
- NM_001407850.1:c.4706A>G
- NM_001407851.1:c.4706A>G
- NM_001407852.1:c.4706A>G
- NM_001407853.1:c.4706A>G
- NM_001407854.1:c.4853A>G
- NM_001407858.1:c.4850A>G
- NM_001407859.1:c.4850A>G
- NM_001407860.1:c.4850A>G
- NM_001407861.1:c.4847A>G
- NM_001407862.1:c.4652A>G
- NM_001407863.1:c.4727A>G
- NM_001407874.1:c.4646A>G
- NM_001407875.1:c.4646A>G
- NM_001407879.1:c.4643A>G
- NM_001407881.1:c.4643A>G
- NM_001407882.1:c.4643A>G
- NM_001407884.1:c.4643A>G
- NM_001407885.1:c.4643A>G
- NM_001407886.1:c.4643A>G
- NM_001407887.1:c.4643A>G
- NM_001407889.1:c.4643A>G
- NM_001407894.1:c.4640A>G
- NM_001407895.1:c.4640A>G
- NM_001407896.1:c.4640A>G
- NM_001407897.1:c.4640A>G
- NM_001407898.1:c.4640A>G
- NM_001407899.1:c.4640A>G
- NM_001407900.1:c.4640A>G
- NM_001407902.1:c.4640A>G
- NM_001407904.1:c.4640A>G
- NM_001407906.1:c.4640A>G
- NM_001407907.1:c.4640A>G
- NM_001407908.1:c.4640A>G
- NM_001407909.1:c.4640A>G
- NM_001407910.1:c.4640A>G
- NM_001407915.1:c.4637A>G
- NM_001407916.1:c.4637A>G
- NM_001407917.1:c.4637A>G
- NM_001407918.1:c.4637A>G
- NM_001407919.1:c.4730A>G
- NM_001407920.1:c.4589A>G
- NM_001407921.1:c.4589A>G
- NM_001407922.1:c.4589A>G
- NM_001407923.1:c.4589A>G
- NM_001407924.1:c.4589A>G
- NM_001407925.1:c.4589A>G
- NM_001407926.1:c.4589A>G
- NM_001407927.1:c.4586A>G
- NM_001407928.1:c.4586A>G
- NM_001407929.1:c.4586A>G
- NM_001407930.1:c.4586A>G
- NM_001407931.1:c.4586A>G
- NM_001407932.1:c.4586A>G
- NM_001407933.1:c.4586A>G
- NM_001407934.1:c.4583A>G
- NM_001407935.1:c.4583A>G
- NM_001407936.1:c.4583A>G
- NM_001407937.1:c.4730A>G
- NM_001407938.1:c.4730A>G
- NM_001407939.1:c.4727A>G
- NM_001407940.1:c.4727A>G
- NM_001407941.1:c.4724A>G
- NM_001407942.1:c.4712A>G
- NM_001407943.1:c.4709A>G
- NM_001407944.1:c.4709A>G
- NM_001407945.1:c.4709A>G
- NM_001407946.1:c.4520A>G
- NM_001407947.1:c.4520A>G
- NM_001407948.1:c.4520A>G
- NM_001407949.1:c.4520A>G
- NM_001407950.1:c.4517A>G
- NM_001407951.1:c.4517A>G
- NM_001407952.1:c.4517A>G
- NM_001407953.1:c.4517A>G
- NM_001407954.1:c.4517A>G
- NM_001407955.1:c.4517A>G
- NM_001407956.1:c.4514A>G
- NM_001407957.1:c.4514A>G
- NM_001407958.1:c.4514A>G
- NM_001407959.1:c.4472A>G
- NM_001407960.1:c.4469A>G
- NM_001407962.1:c.4469A>G
- NM_001407963.1:c.4466A>G
- NM_001407964.1:c.4391A>G
- NM_001407965.1:c.4346A>G
- NM_001407966.1:c.3965A>G
- NM_001407967.1:c.3962A>G
- NM_001407968.1:c.2249A>G
- NM_001407969.1:c.2246A>G
- NM_001407970.1:c.1610A>G
- NM_001407971.1:c.1610A>G
- NM_001407972.1:c.1607A>G
- NM_001407973.1:c.1544A>G
- NM_001407974.1:c.1544A>G
- NM_001407975.1:c.1544A>G
- NM_001407976.1:c.1544A>G
- NM_001407977.1:c.1544A>G
- NM_001407978.1:c.1544A>G
- NM_001407979.1:c.1541A>G
- NM_001407980.1:c.1541A>G
- NM_001407981.1:c.1541A>G
- NM_001407982.1:c.1541A>G
- NM_001407983.1:c.1541A>G
- NM_001407984.1:c.1541A>G
- NM_001407985.1:c.1541A>G
- NM_001407986.1:c.1541A>G
- NM_001407990.1:c.1541A>G
- NM_001407991.1:c.1541A>G
- NM_001407992.1:c.1541A>G
- NM_001407993.1:c.1541A>G
- NM_001408392.1:c.1538A>G
- NM_001408396.1:c.1538A>G
- NM_001408397.1:c.1538A>G
- NM_001408398.1:c.1538A>G
- NM_001408399.1:c.1538A>G
- NM_001408400.1:c.1538A>G
- NM_001408401.1:c.1538A>G
- NM_001408402.1:c.1538A>G
- NM_001408403.1:c.1538A>G
- NM_001408404.1:c.1538A>G
- NM_001408406.1:c.1535A>G
- NM_001408407.1:c.1535A>G
- NM_001408408.1:c.1535A>G
- NM_001408409.1:c.1532A>G
- NM_001408410.1:c.1469A>G
- NM_001408411.1:c.1466A>G
- NM_001408412.1:c.1463A>G
- NM_001408413.1:c.1463A>G
- NM_001408414.1:c.1463A>G
- NM_001408415.1:c.1463A>G
- NM_001408416.1:c.1463A>G
- NM_001408418.1:c.1427A>G
- NM_001408419.1:c.1427A>G
- NM_001408420.1:c.1427A>G
- NM_001408421.1:c.1424A>G
- NM_001408422.1:c.1424A>G
- NM_001408423.1:c.1424A>G
- NM_001408424.1:c.1424A>G
- NM_001408425.1:c.1421A>G
- NM_001408426.1:c.1421A>G
- NM_001408427.1:c.1421A>G
- NM_001408428.1:c.1421A>G
- NM_001408429.1:c.1421A>G
- NM_001408430.1:c.1421A>G
- NM_001408431.1:c.1421A>G
- NM_001408432.1:c.1418A>G
- NM_001408433.1:c.1418A>G
- NM_001408434.1:c.1418A>G
- NM_001408435.1:c.1418A>G
- NM_001408436.1:c.1418A>G
- NM_001408437.1:c.1418A>G
- NM_001408438.1:c.1418A>G
- NM_001408439.1:c.1418A>G
- NM_001408440.1:c.1418A>G
- NM_001408441.1:c.1418A>G
- NM_001408442.1:c.1418A>G
- NM_001408443.1:c.1418A>G
- NM_001408444.1:c.1418A>G
- NM_001408445.1:c.1415A>G
- NM_001408446.1:c.1415A>G
- NM_001408447.1:c.1415A>G
- NM_001408448.1:c.1415A>G
- NM_001408450.1:c.1415A>G
- NM_001408451.1:c.1409A>G
- NM_001408452.1:c.1403A>G
- NM_001408453.1:c.1403A>G
- NM_001408454.1:c.1403A>G
- NM_001408455.1:c.1403A>G
- NM_001408456.1:c.1403A>G
- NM_001408457.1:c.1403A>G
- NM_001408458.1:c.1400A>G
- NM_001408459.1:c.1400A>G
- NM_001408460.1:c.1400A>G
- NM_001408461.1:c.1400A>G
- NM_001408462.1:c.1400A>G
- NM_001408463.1:c.1400A>G
- NM_001408464.1:c.1400A>G
- NM_001408465.1:c.1400A>G
- NM_001408466.1:c.1400A>G
- NM_001408467.1:c.1400A>G
- NM_001408468.1:c.1397A>G
- NM_001408469.1:c.1397A>G
- NM_001408470.1:c.1397A>G
- NM_001408472.1:c.1541A>G
- NM_001408473.1:c.1538A>G
- NM_001408474.1:c.1343A>G
- NM_001408475.1:c.1340A>G
- NM_001408476.1:c.1340A>G
- NM_001408478.1:c.1334A>G
- NM_001408479.1:c.1334A>G
- NM_001408480.1:c.1334A>G
- NM_001408481.1:c.1331A>G
- NM_001408482.1:c.1331A>G
- NM_001408483.1:c.1331A>G
- NM_001408484.1:c.1331A>G
- NM_001408485.1:c.1331A>G
- NM_001408489.1:c.1331A>G
- NM_001408490.1:c.1331A>G
- NM_001408491.1:c.1331A>G
- NM_001408492.1:c.1328A>G
- NM_001408493.1:c.1328A>G
- NM_001408494.1:c.1304A>G
- NM_001408495.1:c.1298A>G
- NM_001408496.1:c.1280A>G
- NM_001408497.1:c.1280A>G
- NM_001408498.1:c.1280A>G
- NM_001408499.1:c.1280A>G
- NM_001408500.1:c.1280A>G
- NM_001408501.1:c.1280A>G
- NM_001408502.1:c.1277A>G
- NM_001408503.1:c.1277A>G
- NM_001408504.1:c.1277A>G
- NM_001408505.1:c.1274A>G
- NM_001408506.1:c.1217A>G
- NM_001408507.1:c.1214A>G
- NM_001408508.1:c.1205A>G
- NM_001408509.1:c.1202A>G
- NM_001408510.1:c.1163A>G
- NM_001408511.1:c.1160A>G
- NM_001408512.1:c.1040A>G
- NM_001408513.1:c.1013A>G
- NM_007294.4:c.4853A>GMANE SELECT
- NM_007297.4:c.4712A>G
- NM_007298.4:c.1541A>G
- NM_007299.4:c.1541A>G
- NM_007300.3:c.4916A>G
- NM_007300.4:c.4916A>G
- NM_007304.2:c.1541A>G
- NP_001394500.1:p.His1547Arg
- NP_001394510.1:p.His1640Arg
- NP_001394511.1:p.His1640Arg
- NP_001394512.1:p.His1639Arg
- NP_001394514.1:p.His1639Arg
- NP_001394516.1:p.His1639Arg
- NP_001394519.1:p.His1638Arg
- NP_001394520.1:p.His1638Arg
- NP_001394522.1:p.His1618Arg
- NP_001394523.1:p.His1618Arg
- NP_001394525.1:p.His1618Arg
- NP_001394526.1:p.His1618Arg
- NP_001394527.1:p.His1618Arg
- NP_001394531.1:p.His1618Arg
- NP_001394532.1:p.His1618Arg
- NP_001394534.1:p.His1618Arg
- NP_001394539.1:p.His1617Arg
- NP_001394540.1:p.His1617Arg
- NP_001394541.1:p.His1617Arg
- NP_001394542.1:p.His1617Arg
- NP_001394543.1:p.His1617Arg
- NP_001394544.1:p.His1617Arg
- NP_001394545.1:p.His1617Arg
- NP_001394546.1:p.His1617Arg
- NP_001394547.1:p.His1617Arg
- NP_001394548.1:p.His1617Arg
- NP_001394549.1:p.His1617Arg
- NP_001394550.1:p.His1617Arg
- NP_001394551.1:p.His1617Arg
- NP_001394552.1:p.His1617Arg
- NP_001394553.1:p.His1617Arg
- NP_001394554.1:p.His1617Arg
- NP_001394555.1:p.His1617Arg
- NP_001394556.1:p.His1616Arg
- NP_001394557.1:p.His1616Arg
- NP_001394558.1:p.His1616Arg
- NP_001394559.1:p.His1616Arg
- NP_001394560.1:p.His1616Arg
- NP_001394561.1:p.His1616Arg
- NP_001394562.1:p.His1616Arg
- NP_001394563.1:p.His1616Arg
- NP_001394564.1:p.His1616Arg
- NP_001394565.1:p.His1616Arg
- NP_001394566.1:p.His1616Arg
- NP_001394567.1:p.His1616Arg
- NP_001394568.1:p.His1616Arg
- NP_001394569.1:p.His1616Arg
- NP_001394570.1:p.His1616Arg
- NP_001394571.1:p.His1616Arg
- NP_001394573.1:p.His1615Arg
- NP_001394574.1:p.His1615Arg
- NP_001394575.1:p.His1614Arg
- NP_001394576.1:p.His1613Arg
- NP_001394577.1:p.His1599Arg
- NP_001394578.1:p.His1598Arg
- NP_001394581.1:p.His1618Arg
- NP_001394582.1:p.His1592Arg
- NP_001394583.1:p.His1592Arg
- NP_001394584.1:p.His1592Arg
- NP_001394585.1:p.His1591Arg
- NP_001394586.1:p.His1591Arg
- NP_001394587.1:p.His1591Arg
- NP_001394588.1:p.His1590Arg
- NP_001394589.1:p.His1590Arg
- NP_001394590.1:p.His1590Arg
- NP_001394591.1:p.His1590Arg
- NP_001394592.1:p.His1590Arg
- NP_001394593.1:p.His1577Arg
- NP_001394594.1:p.His1577Arg
- NP_001394595.1:p.His1577Arg
- NP_001394596.1:p.His1577Arg
- NP_001394597.1:p.His1577Arg
- NP_001394598.1:p.His1577Arg
- NP_001394599.1:p.His1576Arg
- NP_001394600.1:p.His1576Arg
- NP_001394601.1:p.His1576Arg
- NP_001394602.1:p.His1576Arg
- NP_001394603.1:p.His1576Arg
- NP_001394604.1:p.His1576Arg
- NP_001394605.1:p.His1576Arg
- NP_001394606.1:p.His1576Arg
- NP_001394607.1:p.His1576Arg
- NP_001394608.1:p.His1576Arg
- NP_001394609.1:p.His1576Arg
- NP_001394610.1:p.His1575Arg
- NP_001394611.1:p.His1575Arg
- NP_001394612.1:p.His1575Arg
- NP_001394613.1:p.His1618Arg
- NP_001394614.1:p.His1575Arg
- NP_001394615.1:p.His1575Arg
- NP_001394616.1:p.His1575Arg
- NP_001394617.1:p.His1575Arg
- NP_001394618.1:p.His1575Arg
- NP_001394619.1:p.His1574Arg
- NP_001394620.1:p.His1574Arg
- NP_001394621.1:p.His1571Arg
- NP_001394623.1:p.His1571Arg
- NP_001394624.1:p.His1571Arg
- NP_001394625.1:p.His1571Arg
- NP_001394626.1:p.His1571Arg
- NP_001394627.1:p.His1571Arg
- NP_001394653.1:p.His1571Arg
- NP_001394654.1:p.His1571Arg
- NP_001394655.1:p.His1571Arg
- NP_001394656.1:p.His1571Arg
- NP_001394657.1:p.His1571Arg
- NP_001394658.1:p.His1571Arg
- NP_001394659.1:p.His1571Arg
- NP_001394660.1:p.His1571Arg
- NP_001394661.1:p.His1570Arg
- NP_001394662.1:p.His1570Arg
- NP_001394663.1:p.His1570Arg
- NP_001394664.1:p.His1570Arg
- NP_001394665.1:p.His1570Arg
- NP_001394666.1:p.His1570Arg
- NP_001394667.1:p.His1570Arg
- NP_001394668.1:p.His1570Arg
- NP_001394669.1:p.His1570Arg
- NP_001394670.1:p.His1570Arg
- NP_001394671.1:p.His1570Arg
- NP_001394672.1:p.His1570Arg
- NP_001394673.1:p.His1570Arg
- NP_001394674.1:p.His1570Arg
- NP_001394675.1:p.His1570Arg
- NP_001394676.1:p.His1570Arg
- NP_001394677.1:p.His1570Arg
- NP_001394678.1:p.His1570Arg
- NP_001394679.1:p.His1570Arg
- NP_001394680.1:p.His1570Arg
- NP_001394681.1:p.His1570Arg
- NP_001394767.1:p.His1569Arg
- NP_001394768.1:p.His1569Arg
- NP_001394770.1:p.His1569Arg
- NP_001394771.1:p.His1569Arg
- NP_001394772.1:p.His1569Arg
- NP_001394773.1:p.His1569Arg
- NP_001394774.1:p.His1569Arg
- NP_001394775.1:p.His1569Arg
- NP_001394776.1:p.His1569Arg
- NP_001394777.1:p.His1569Arg
- NP_001394778.1:p.His1569Arg
- NP_001394779.1:p.His1569Arg
- NP_001394780.1:p.His1569Arg
- NP_001394781.1:p.His1569Arg
- NP_001394782.1:p.His1569Arg
- NP_001394783.1:p.His1618Arg
- NP_001394787.1:p.His1617Arg
- NP_001394788.1:p.His1617Arg
- NP_001394789.1:p.His1617Arg
- NP_001394790.1:p.His1616Arg
- NP_001394791.1:p.His1551Arg
- NP_001394792.1:p.His1576Arg
- NP_001394803.1:p.His1549Arg
- NP_001394804.1:p.His1549Arg
- NP_001394808.1:p.His1548Arg
- NP_001394810.1:p.His1548Arg
- NP_001394811.1:p.His1548Arg
- NP_001394813.1:p.His1548Arg
- NP_001394814.1:p.His1548Arg
- NP_001394815.1:p.His1548Arg
- NP_001394816.1:p.His1548Arg
- NP_001394818.1:p.His1548Arg
- NP_001394823.1:p.His1547Arg
- NP_001394824.1:p.His1547Arg
- NP_001394825.1:p.His1547Arg
- NP_001394826.1:p.His1547Arg
- NP_001394827.1:p.His1547Arg
- NP_001394828.1:p.His1547Arg
- NP_001394829.1:p.His1547Arg
- NP_001394831.1:p.His1547Arg
- NP_001394833.1:p.His1547Arg
- NP_001394835.1:p.His1547Arg
- NP_001394836.1:p.His1547Arg
- NP_001394837.1:p.His1547Arg
- NP_001394838.1:p.His1547Arg
- NP_001394839.1:p.His1547Arg
- NP_001394844.1:p.His1546Arg
- NP_001394845.1:p.His1546Arg
- NP_001394846.1:p.His1546Arg
- NP_001394847.1:p.His1546Arg
- NP_001394848.1:p.His1577Arg
- NP_001394849.1:p.His1530Arg
- NP_001394850.1:p.His1530Arg
- NP_001394851.1:p.His1530Arg
- NP_001394852.1:p.His1530Arg
- NP_001394853.1:p.His1530Arg
- NP_001394854.1:p.His1530Arg
- NP_001394855.1:p.His1530Arg
- NP_001394856.1:p.His1529Arg
- NP_001394857.1:p.His1529Arg
- NP_001394858.1:p.His1529Arg
- NP_001394859.1:p.His1529Arg
- NP_001394860.1:p.His1529Arg
- NP_001394861.1:p.His1529Arg
- NP_001394862.1:p.His1529Arg
- NP_001394863.1:p.His1528Arg
- NP_001394864.1:p.His1528Arg
- NP_001394865.1:p.His1528Arg
- NP_001394866.1:p.His1577Arg
- NP_001394867.1:p.His1577Arg
- NP_001394868.1:p.His1576Arg
- NP_001394869.1:p.His1576Arg
- NP_001394870.1:p.His1575Arg
- NP_001394871.1:p.His1571Arg
- NP_001394872.1:p.His1570Arg
- NP_001394873.1:p.His1570Arg
- NP_001394874.1:p.His1570Arg
- NP_001394875.1:p.His1507Arg
- NP_001394876.1:p.His1507Arg
- NP_001394877.1:p.His1507Arg
- NP_001394878.1:p.His1507Arg
- NP_001394879.1:p.His1506Arg
- NP_001394880.1:p.His1506Arg
- NP_001394881.1:p.His1506Arg
- NP_001394882.1:p.His1506Arg
- NP_001394883.1:p.His1506Arg
- NP_001394884.1:p.His1506Arg
- NP_001394885.1:p.His1505Arg
- NP_001394886.1:p.His1505Arg
- NP_001394887.1:p.His1505Arg
- NP_001394888.1:p.His1491Arg
- NP_001394889.1:p.His1490Arg
- NP_001394891.1:p.His1490Arg
- NP_001394892.1:p.His1489Arg
- NP_001394893.1:p.His1464Arg
- NP_001394894.1:p.His1449Arg
- NP_001394895.1:p.His1322Arg
- NP_001394896.1:p.His1321Arg
- NP_001394897.1:p.His750Arg
- NP_001394898.1:p.His749Arg
- NP_001394899.1:p.His537Arg
- NP_001394900.1:p.His537Arg
- NP_001394901.1:p.His536Arg
- NP_001394902.1:p.His515Arg
- NP_001394903.1:p.His515Arg
- NP_001394904.1:p.His515Arg
- NP_001394905.1:p.His515Arg
- NP_001394906.1:p.His515Arg
- NP_001394907.1:p.His515Arg
- NP_001394908.1:p.His514Arg
- NP_001394909.1:p.His514Arg
- NP_001394910.1:p.His514Arg
- NP_001394911.1:p.His514Arg
- NP_001394912.1:p.His514Arg
- NP_001394913.1:p.His514Arg
- NP_001394914.1:p.His514Arg
- NP_001394915.1:p.His514Arg
- NP_001394919.1:p.His514Arg
- NP_001394920.1:p.His514Arg
- NP_001394921.1:p.His514Arg
- NP_001394922.1:p.His514Arg
- NP_001395321.1:p.His513Arg
- NP_001395325.1:p.His513Arg
- NP_001395326.1:p.His513Arg
- NP_001395327.1:p.His513Arg
- NP_001395328.1:p.His513Arg
- NP_001395329.1:p.His513Arg
- NP_001395330.1:p.His513Arg
- NP_001395331.1:p.His513Arg
- NP_001395332.1:p.His513Arg
- NP_001395333.1:p.His513Arg
- NP_001395335.1:p.His512Arg
- NP_001395336.1:p.His512Arg
- NP_001395337.1:p.His512Arg
- NP_001395338.1:p.His511Arg
- NP_001395339.1:p.His490Arg
- NP_001395340.1:p.His489Arg
- NP_001395341.1:p.His488Arg
- NP_001395342.1:p.His488Arg
- NP_001395343.1:p.His488Arg
- NP_001395344.1:p.His488Arg
- NP_001395345.1:p.His488Arg
- NP_001395347.1:p.His476Arg
- NP_001395348.1:p.His476Arg
- NP_001395349.1:p.His476Arg
- NP_001395350.1:p.His475Arg
- NP_001395351.1:p.His475Arg
- NP_001395352.1:p.His475Arg
- NP_001395353.1:p.His475Arg
- NP_001395354.1:p.His474Arg
- NP_001395355.1:p.His474Arg
- NP_001395356.1:p.His474Arg
- NP_001395357.1:p.His474Arg
- NP_001395358.1:p.His474Arg
- NP_001395359.1:p.His474Arg
- NP_001395360.1:p.His474Arg
- NP_001395361.1:p.His473Arg
- NP_001395362.1:p.His473Arg
- NP_001395363.1:p.His473Arg
- NP_001395364.1:p.His473Arg
- NP_001395365.1:p.His473Arg
- NP_001395366.1:p.His473Arg
- NP_001395367.1:p.His473Arg
- NP_001395368.1:p.His473Arg
- NP_001395369.1:p.His473Arg
- NP_001395370.1:p.His473Arg
- NP_001395371.1:p.His473Arg
- NP_001395372.1:p.His473Arg
- NP_001395373.1:p.His473Arg
- NP_001395374.1:p.His472Arg
- NP_001395375.1:p.His472Arg
- NP_001395376.1:p.His472Arg
- NP_001395377.1:p.His472Arg
- NP_001395379.1:p.His472Arg
- NP_001395380.1:p.His470Arg
- NP_001395381.1:p.His468Arg
- NP_001395382.1:p.His468Arg
- NP_001395383.1:p.His468Arg
- NP_001395384.1:p.His468Arg
- NP_001395385.1:p.His468Arg
- NP_001395386.1:p.His468Arg
- NP_001395387.1:p.His467Arg
- NP_001395388.1:p.His467Arg
- NP_001395389.1:p.His467Arg
- NP_001395390.1:p.His467Arg
- NP_001395391.1:p.His467Arg
- NP_001395392.1:p.His467Arg
- NP_001395393.1:p.His467Arg
- NP_001395394.1:p.His467Arg
- NP_001395395.1:p.His467Arg
- NP_001395396.1:p.His467Arg
- NP_001395397.1:p.His466Arg
- NP_001395398.1:p.His466Arg
- NP_001395399.1:p.His466Arg
- NP_001395401.1:p.His514Arg
- NP_001395402.1:p.His513Arg
- NP_001395403.1:p.His448Arg
- NP_001395404.1:p.His447Arg
- NP_001395405.1:p.His447Arg
- NP_001395407.1:p.His445Arg
- NP_001395408.1:p.His445Arg
- NP_001395409.1:p.His445Arg
- NP_001395410.1:p.His444Arg
- NP_001395411.1:p.His444Arg
- NP_001395412.1:p.His444Arg
- NP_001395413.1:p.His444Arg
- NP_001395414.1:p.His444Arg
- NP_001395418.1:p.His444Arg
- NP_001395419.1:p.His444Arg
- NP_001395420.1:p.His444Arg
- NP_001395421.1:p.His443Arg
- NP_001395422.1:p.His443Arg
- NP_001395423.1:p.His435Arg
- NP_001395424.1:p.His433Arg
- NP_001395425.1:p.His427Arg
- NP_001395426.1:p.His427Arg
- NP_001395427.1:p.His427Arg
- NP_001395428.1:p.His427Arg
- NP_001395429.1:p.His427Arg
- NP_001395430.1:p.His427Arg
- NP_001395431.1:p.His426Arg
- NP_001395432.1:p.His426Arg
- NP_001395433.1:p.His426Arg
- NP_001395434.1:p.His425Arg
- NP_001395435.1:p.His406Arg
- NP_001395436.1:p.His405Arg
- NP_001395437.1:p.His402Arg
- NP_001395438.1:p.His401Arg
- NP_001395439.1:p.His388Arg
- NP_001395440.1:p.His387Arg
- NP_001395441.1:p.His347Arg
- NP_001395442.1:p.His338Arg
- NP_009225.1:p.His1618Arg
- NP_009225.1:p.His1618Arg
- NP_009228.2:p.His1571Arg
- NP_009229.2:p.His514Arg
- NP_009229.2:p.His514Arg
- NP_009230.2:p.His514Arg
- NP_009231.2:p.His1639Arg
- NP_009235.2:p.His514Arg
- LRG_292t1:c.4853A>G
- LRG_292:g.146923A>G
- LRG_292p1:p.His1618Arg
- NC_000017.10:g.41223078T>C
- NM_007294.3:c.4853A>G
- NM_007298.3:c.1541A>G
- NR_027676.2:n.5030A>G
This HGVS expression did not pass validation- Protein change:
- H1321R
- Links:
- dbSNP: rs1277159752
- NCBI 1000 Genomes Browser:
- rs1277159752
- Molecular consequence:
- NM_001407571.1:c.4640A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407581.1:c.4919A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407582.1:c.4919A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407583.1:c.4916A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407585.1:c.4916A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407587.1:c.4916A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407590.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407591.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407593.1:c.4853A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407594.1:c.4853A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407596.1:c.4853A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407597.1:c.4853A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407598.1:c.4853A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407602.1:c.4853A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407603.1:c.4853A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407605.1:c.4853A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407610.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407611.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407612.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407613.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407614.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407615.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407616.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407617.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407618.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407619.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407620.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407621.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407622.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407623.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407624.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407625.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407626.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407627.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407628.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407629.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407630.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407631.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407632.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407633.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407634.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407635.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407636.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407637.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407638.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407639.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407640.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407641.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407642.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407644.1:c.4844A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407645.1:c.4844A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407646.1:c.4841A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407647.1:c.4838A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407648.1:c.4796A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407649.1:c.4793A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407652.1:c.4853A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407653.1:c.4775A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407654.1:c.4775A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407655.1:c.4775A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407656.1:c.4772A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407657.1:c.4772A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407658.1:c.4772A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407659.1:c.4769A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407660.1:c.4769A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407661.1:c.4769A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407662.1:c.4769A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407663.1:c.4769A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407664.1:c.4730A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407665.1:c.4730A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407666.1:c.4730A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407667.1:c.4730A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407668.1:c.4730A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407669.1:c.4730A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407670.1:c.4727A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407671.1:c.4727A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407672.1:c.4727A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407673.1:c.4727A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407674.1:c.4727A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407675.1:c.4727A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407676.1:c.4727A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407677.1:c.4727A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407678.1:c.4727A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407679.1:c.4727A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407680.1:c.4727A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407681.1:c.4724A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407682.1:c.4724A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407683.1:c.4724A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407684.1:c.4853A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407685.1:c.4724A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407686.1:c.4724A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407687.1:c.4724A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407688.1:c.4724A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407689.1:c.4724A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407690.1:c.4721A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407691.1:c.4721A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407692.1:c.4712A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407694.1:c.4712A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407695.1:c.4712A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407696.1:c.4712A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407697.1:c.4712A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407698.1:c.4712A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407724.1:c.4712A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407725.1:c.4712A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407726.1:c.4712A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407727.1:c.4712A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407728.1:c.4712A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407729.1:c.4712A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407730.1:c.4712A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407731.1:c.4712A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407732.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407733.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407734.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407735.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407736.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407737.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407738.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407739.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407740.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407741.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407742.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407743.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407744.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407745.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407746.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407747.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407748.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407749.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407750.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407751.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407752.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407838.1:c.4706A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407839.1:c.4706A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407841.1:c.4706A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407842.1:c.4706A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407843.1:c.4706A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407844.1:c.4706A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407845.1:c.4706A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407846.1:c.4706A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407847.1:c.4706A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407848.1:c.4706A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407849.1:c.4706A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407850.1:c.4706A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407851.1:c.4706A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407852.1:c.4706A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407853.1:c.4706A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407854.1:c.4853A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407858.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407859.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407860.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407861.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407862.1:c.4652A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407863.1:c.4727A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407874.1:c.4646A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407875.1:c.4646A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407879.1:c.4643A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407881.1:c.4643A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407882.1:c.4643A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407884.1:c.4643A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407885.1:c.4643A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407886.1:c.4643A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407887.1:c.4643A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407889.1:c.4643A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407894.1:c.4640A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407895.1:c.4640A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407896.1:c.4640A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407897.1:c.4640A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407898.1:c.4640A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407899.1:c.4640A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407900.1:c.4640A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407902.1:c.4640A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407904.1:c.4640A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407906.1:c.4640A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407907.1:c.4640A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407908.1:c.4640A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407909.1:c.4640A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407910.1:c.4640A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407915.1:c.4637A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407916.1:c.4637A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407917.1:c.4637A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407918.1:c.4637A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407919.1:c.4730A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407920.1:c.4589A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407921.1:c.4589A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407922.1:c.4589A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407923.1:c.4589A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407924.1:c.4589A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407925.1:c.4589A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407926.1:c.4589A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407927.1:c.4586A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407928.1:c.4586A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407929.1:c.4586A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407930.1:c.4586A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407931.1:c.4586A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407932.1:c.4586A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407933.1:c.4586A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407934.1:c.4583A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407935.1:c.4583A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407936.1:c.4583A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407937.1:c.4730A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407938.1:c.4730A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407939.1:c.4727A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407940.1:c.4727A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407941.1:c.4724A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407942.1:c.4712A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407943.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407944.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407945.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407946.1:c.4520A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407947.1:c.4520A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407948.1:c.4520A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407949.1:c.4520A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407950.1:c.4517A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407951.1:c.4517A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407952.1:c.4517A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407953.1:c.4517A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407954.1:c.4517A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407955.1:c.4517A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407956.1:c.4514A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407957.1:c.4514A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407958.1:c.4514A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407959.1:c.4472A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407960.1:c.4469A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407962.1:c.4469A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407963.1:c.4466A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407964.1:c.4391A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407965.1:c.4346A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407966.1:c.3965A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407967.1:c.3962A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407968.1:c.2249A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407969.1:c.2246A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407970.1:c.1610A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407971.1:c.1610A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407972.1:c.1607A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407973.1:c.1544A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407974.1:c.1544A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407975.1:c.1544A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407976.1:c.1544A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407977.1:c.1544A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407978.1:c.1544A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407979.1:c.1541A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407980.1:c.1541A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407981.1:c.1541A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407982.1:c.1541A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407983.1:c.1541A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407984.1:c.1541A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407985.1:c.1541A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407986.1:c.1541A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407990.1:c.1541A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407991.1:c.1541A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407992.1:c.1541A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407993.1:c.1541A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408392.1:c.1538A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408396.1:c.1538A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408397.1:c.1538A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408398.1:c.1538A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408399.1:c.1538A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408400.1:c.1538A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408401.1:c.1538A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408402.1:c.1538A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408403.1:c.1538A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408404.1:c.1538A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408406.1:c.1535A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408407.1:c.1535A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408408.1:c.1535A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408409.1:c.1532A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408410.1:c.1469A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408411.1:c.1466A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408412.1:c.1463A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408413.1:c.1463A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408414.1:c.1463A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408415.1:c.1463A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408416.1:c.1463A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408418.1:c.1427A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408419.1:c.1427A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408420.1:c.1427A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408421.1:c.1424A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408422.1:c.1424A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408423.1:c.1424A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408424.1:c.1424A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408425.1:c.1421A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408426.1:c.1421A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408427.1:c.1421A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408428.1:c.1421A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408429.1:c.1421A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408430.1:c.1421A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408431.1:c.1421A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408432.1:c.1418A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408433.1:c.1418A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408434.1:c.1418A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408435.1:c.1418A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408436.1:c.1418A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408437.1:c.1418A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408438.1:c.1418A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408439.1:c.1418A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408440.1:c.1418A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408441.1:c.1418A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408442.1:c.1418A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408443.1:c.1418A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408444.1:c.1418A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408445.1:c.1415A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408446.1:c.1415A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408447.1:c.1415A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408448.1:c.1415A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408450.1:c.1415A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408451.1:c.1409A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408452.1:c.1403A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408453.1:c.1403A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408454.1:c.1403A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408455.1:c.1403A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408456.1:c.1403A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408457.1:c.1403A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408458.1:c.1400A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408459.1:c.1400A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408460.1:c.1400A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408461.1:c.1400A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408462.1:c.1400A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408463.1:c.1400A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408464.1:c.1400A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408465.1:c.1400A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408466.1:c.1400A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408467.1:c.1400A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408468.1:c.1397A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408469.1:c.1397A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408470.1:c.1397A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408472.1:c.1541A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408473.1:c.1538A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408474.1:c.1343A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408475.1:c.1340A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408476.1:c.1340A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408478.1:c.1334A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408479.1:c.1334A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408480.1:c.1334A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408481.1:c.1331A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408482.1:c.1331A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408483.1:c.1331A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408484.1:c.1331A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408485.1:c.1331A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408489.1:c.1331A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408490.1:c.1331A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408491.1:c.1331A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408492.1:c.1328A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408493.1:c.1328A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408494.1:c.1304A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408495.1:c.1298A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408496.1:c.1280A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408497.1:c.1280A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408498.1:c.1280A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408499.1:c.1280A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408500.1:c.1280A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408501.1:c.1280A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408502.1:c.1277A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408503.1:c.1277A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408504.1:c.1277A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408505.1:c.1274A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408506.1:c.1217A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408507.1:c.1214A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408508.1:c.1205A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408509.1:c.1202A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408510.1:c.1163A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408511.1:c.1160A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408512.1:c.1040A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408513.1:c.1013A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007294.4:c.4853A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007297.4:c.4712A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007298.4:c.1541A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007299.4:c.1541A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007300.4:c.4916A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007304.2:c.1541A>G - missense variant - [Sequence Ontology: SO:0001583]
- NR_027676.2:n.5030A>G - 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
-
we86a02.x1 Soares_NFL_T_GBC_S1 Homo sapiens cDNA clone IMAGE:2347946 3', mRNA se...
we86a02.x1 Soares_NFL_T_GBC_S1 Homo sapiens cDNA clone IMAGE:2347946 3', mRNA sequencegi|5362690|gnl|dbEST|2852201|gb|AI7 .1|Nucleotide
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See more...Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000668439 | Ambry Genetics | criteria provided, single submitter (Ambry Variant Classification Scheme 2023) | Uncertain significance (Aug 9, 2016) | 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, SCV000668439.5
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
Description
The p.H1618R variant (also known as c.4853A>G), located in coding exon 14 of the BRCA1 gene, results from an A to G substitution at nucleotide position 4853. The histidine at codon 1618 is replaced by arginine, an amino acid with highly similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. To date, this alteration has been detected with an allele frequency of approximately 0.0003% (greater than 300000 alleles tested) in our clinical cohort. This amino acid position is poorly 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: Oct 8, 2024