NM_007294.4(BRCA1):c.4391C>G (p.Pro1464Arg) AND Breast-ovarian cancer, familial, susceptibility to, 1
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 12, 2023
- 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:
- RCV003316833.1
Allele description [Variation Report for NM_007294.4(BRCA1):c.4391C>G (p.Pro1464Arg)]
NM_007294.4(BRCA1):c.4391C>G (p.Pro1464Arg)
- 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.4391C>G (p.Pro1464Arg)
- HGVS:
- NC_000017.11:g.43076581G>C
- NG_005905.2:g.141403C>G
- NM_001407571.1:c.4178C>G
- NM_001407581.1:c.4457C>G
- NM_001407582.1:c.4457C>G
- NM_001407583.1:c.4454C>G
- NM_001407585.1:c.4454C>G
- NM_001407587.1:c.4454C>G
- NM_001407590.1:c.4451C>G
- NM_001407591.1:c.4451C>G
- NM_001407593.1:c.4391C>G
- NM_001407594.1:c.4391C>G
- NM_001407596.1:c.4391C>G
- NM_001407597.1:c.4391C>G
- NM_001407598.1:c.4391C>G
- NM_001407602.1:c.4391C>G
- NM_001407603.1:c.4391C>G
- NM_001407605.1:c.4391C>G
- NM_001407610.1:c.4388C>G
- NM_001407611.1:c.4388C>G
- NM_001407612.1:c.4388C>G
- NM_001407613.1:c.4388C>G
- NM_001407614.1:c.4388C>G
- NM_001407615.1:c.4388C>G
- NM_001407616.1:c.4388C>G
- NM_001407617.1:c.4388C>G
- NM_001407618.1:c.4388C>G
- NM_001407619.1:c.4388C>G
- NM_001407620.1:c.4388C>G
- NM_001407621.1:c.4388C>G
- NM_001407622.1:c.4388C>G
- NM_001407623.1:c.4388C>G
- NM_001407624.1:c.4388C>G
- NM_001407625.1:c.4388C>G
- NM_001407626.1:c.4388C>G
- NM_001407627.1:c.4385C>G
- NM_001407628.1:c.4385C>G
- NM_001407629.1:c.4385C>G
- NM_001407630.1:c.4385C>G
- NM_001407631.1:c.4385C>G
- NM_001407632.1:c.4385C>G
- NM_001407633.1:c.4385C>G
- NM_001407634.1:c.4385C>G
- NM_001407635.1:c.4385C>G
- NM_001407636.1:c.4385C>G
- NM_001407637.1:c.4385C>G
- NM_001407638.1:c.4385C>G
- NM_001407639.1:c.4385C>G
- NM_001407640.1:c.4385C>G
- NM_001407641.1:c.4385C>G
- NM_001407642.1:c.4385C>G
- NM_001407644.1:c.4382C>G
- NM_001407645.1:c.4382C>G
- NM_001407646.1:c.4379C>G
- NM_001407647.1:c.4376C>G
- NM_001407648.1:c.4334C>G
- NM_001407649.1:c.4331C>G
- NM_001407652.1:c.4391C>G
- NM_001407653.1:c.4313C>G
- NM_001407654.1:c.4313C>G
- NM_001407655.1:c.4313C>G
- NM_001407656.1:c.4310C>G
- NM_001407657.1:c.4310C>G
- NM_001407658.1:c.4310C>G
- NM_001407659.1:c.4307C>G
- NM_001407660.1:c.4307C>G
- NM_001407661.1:c.4307C>G
- NM_001407662.1:c.4307C>G
- NM_001407663.1:c.4307C>G
- NM_001407664.1:c.4268C>G
- NM_001407665.1:c.4268C>G
- NM_001407666.1:c.4268C>G
- NM_001407667.1:c.4268C>G
- NM_001407668.1:c.4268C>G
- NM_001407669.1:c.4268C>G
- NM_001407670.1:c.4265C>G
- NM_001407671.1:c.4265C>G
- NM_001407672.1:c.4265C>G
- NM_001407673.1:c.4265C>G
- NM_001407674.1:c.4265C>G
- NM_001407675.1:c.4265C>G
- NM_001407676.1:c.4265C>G
- NM_001407677.1:c.4265C>G
- NM_001407678.1:c.4265C>G
- NM_001407679.1:c.4265C>G
- NM_001407680.1:c.4265C>G
- NM_001407681.1:c.4262C>G
- NM_001407682.1:c.4262C>G
- NM_001407683.1:c.4262C>G
- NM_001407684.1:c.4391C>G
- NM_001407685.1:c.4262C>G
- NM_001407686.1:c.4262C>G
- NM_001407687.1:c.4262C>G
- NM_001407688.1:c.4262C>G
- NM_001407689.1:c.4262C>G
- NM_001407690.1:c.4259C>G
- NM_001407691.1:c.4259C>G
- NM_001407692.1:c.4250C>G
- NM_001407694.1:c.4250C>G
- NM_001407695.1:c.4250C>G
- NM_001407696.1:c.4250C>G
- NM_001407697.1:c.4250C>G
- NM_001407698.1:c.4250C>G
- NM_001407724.1:c.4250C>G
- NM_001407725.1:c.4250C>G
- NM_001407726.1:c.4250C>G
- NM_001407727.1:c.4250C>G
- NM_001407728.1:c.4250C>G
- NM_001407729.1:c.4250C>G
- NM_001407730.1:c.4250C>G
- NM_001407731.1:c.4250C>G
- NM_001407732.1:c.4247C>G
- NM_001407733.1:c.4247C>G
- NM_001407734.1:c.4247C>G
- NM_001407735.1:c.4247C>G
- NM_001407736.1:c.4247C>G
- NM_001407737.1:c.4247C>G
- NM_001407738.1:c.4247C>G
- NM_001407739.1:c.4247C>G
- NM_001407740.1:c.4247C>G
- NM_001407741.1:c.4247C>G
- NM_001407742.1:c.4247C>G
- NM_001407743.1:c.4247C>G
- NM_001407744.1:c.4247C>G
- NM_001407745.1:c.4247C>G
- NM_001407746.1:c.4247C>G
- NM_001407747.1:c.4247C>G
- NM_001407748.1:c.4247C>G
- NM_001407749.1:c.4247C>G
- NM_001407750.1:c.4247C>G
- NM_001407751.1:c.4247C>G
- NM_001407752.1:c.4247C>G
- NM_001407838.1:c.4244C>G
- NM_001407839.1:c.4244C>G
- NM_001407841.1:c.4244C>G
- NM_001407842.1:c.4244C>G
- NM_001407843.1:c.4244C>G
- NM_001407844.1:c.4244C>G
- NM_001407845.1:c.4244C>G
- NM_001407846.1:c.4244C>G
- NM_001407847.1:c.4244C>G
- NM_001407848.1:c.4244C>G
- NM_001407849.1:c.4244C>G
- NM_001407850.1:c.4244C>G
- NM_001407851.1:c.4244C>G
- NM_001407852.1:c.4244C>G
- NM_001407853.1:c.4244C>G
- NM_001407854.1:c.4391C>G
- NM_001407858.1:c.4388C>G
- NM_001407859.1:c.4388C>G
- NM_001407860.1:c.4388C>G
- NM_001407861.1:c.4385C>G
- NM_001407862.1:c.4190C>G
- NM_001407863.1:c.4265C>G
- NM_001407874.1:c.4184C>G
- NM_001407875.1:c.4184C>G
- NM_001407879.1:c.4181C>G
- NM_001407881.1:c.4181C>G
- NM_001407882.1:c.4181C>G
- NM_001407884.1:c.4181C>G
- NM_001407885.1:c.4181C>G
- NM_001407886.1:c.4181C>G
- NM_001407887.1:c.4181C>G
- NM_001407889.1:c.4181C>G
- NM_001407894.1:c.4178C>G
- NM_001407895.1:c.4178C>G
- NM_001407896.1:c.4178C>G
- NM_001407897.1:c.4178C>G
- NM_001407898.1:c.4178C>G
- NM_001407899.1:c.4178C>G
- NM_001407900.1:c.4178C>G
- NM_001407902.1:c.4178C>G
- NM_001407904.1:c.4178C>G
- NM_001407906.1:c.4178C>G
- NM_001407907.1:c.4178C>G
- NM_001407908.1:c.4178C>G
- NM_001407909.1:c.4178C>G
- NM_001407910.1:c.4178C>G
- NM_001407915.1:c.4175C>G
- NM_001407916.1:c.4175C>G
- NM_001407917.1:c.4175C>G
- NM_001407918.1:c.4175C>G
- NM_001407919.1:c.4268C>G
- NM_001407920.1:c.4127C>G
- NM_001407921.1:c.4127C>G
- NM_001407922.1:c.4127C>G
- NM_001407923.1:c.4127C>G
- NM_001407924.1:c.4127C>G
- NM_001407925.1:c.4127C>G
- NM_001407926.1:c.4127C>G
- NM_001407927.1:c.4124C>G
- NM_001407928.1:c.4124C>G
- NM_001407929.1:c.4124C>G
- NM_001407930.1:c.4124C>G
- NM_001407931.1:c.4124C>G
- NM_001407932.1:c.4124C>G
- NM_001407933.1:c.4124C>G
- NM_001407934.1:c.4121C>G
- NM_001407935.1:c.4121C>G
- NM_001407936.1:c.4121C>G
- NM_001407937.1:c.4268C>G
- NM_001407938.1:c.4268C>G
- NM_001407939.1:c.4265C>G
- NM_001407940.1:c.4265C>G
- NM_001407941.1:c.4262C>G
- NM_001407942.1:c.4250C>G
- NM_001407943.1:c.4247C>G
- NM_001407944.1:c.4247C>G
- NM_001407945.1:c.4247C>G
- NM_001407946.1:c.4058C>G
- NM_001407947.1:c.4058C>G
- NM_001407948.1:c.4058C>G
- NM_001407949.1:c.4058C>G
- NM_001407950.1:c.4055C>G
- NM_001407951.1:c.4055C>G
- NM_001407952.1:c.4055C>G
- NM_001407953.1:c.4055C>G
- NM_001407954.1:c.4055C>G
- NM_001407955.1:c.4055C>G
- NM_001407956.1:c.4052C>G
- NM_001407957.1:c.4052C>G
- NM_001407958.1:c.4052C>G
- NM_001407959.1:c.4010C>G
- NM_001407960.1:c.4007C>G
- NM_001407962.1:c.4007C>G
- NM_001407963.1:c.4004C>G
- NM_001407965.1:c.3884C>G
- NM_001407966.1:c.3503C>G
- NM_001407967.1:c.3500C>G
- NM_001407968.1:c.1787C>G
- NM_001407969.1:c.1784C>G
- NM_001407970.1:c.1148C>G
- NM_001407971.1:c.1148C>G
- NM_001407972.1:c.1145C>G
- NM_001407973.1:c.1082C>G
- NM_001407974.1:c.1082C>G
- NM_001407975.1:c.1082C>G
- NM_001407976.1:c.1082C>G
- NM_001407977.1:c.1082C>G
- NM_001407978.1:c.1082C>G
- NM_001407979.1:c.1079C>G
- NM_001407980.1:c.1079C>G
- NM_001407981.1:c.1079C>G
- NM_001407982.1:c.1079C>G
- NM_001407983.1:c.1079C>G
- NM_001407984.1:c.1079C>G
- NM_001407985.1:c.1079C>G
- NM_001407986.1:c.1079C>G
- NM_001407990.1:c.1079C>G
- NM_001407991.1:c.1079C>G
- NM_001407992.1:c.1079C>G
- NM_001407993.1:c.1079C>G
- NM_001408392.1:c.1076C>G
- NM_001408396.1:c.1076C>G
- NM_001408397.1:c.1076C>G
- NM_001408398.1:c.1076C>G
- NM_001408399.1:c.1076C>G
- NM_001408400.1:c.1076C>G
- NM_001408401.1:c.1076C>G
- NM_001408402.1:c.1076C>G
- NM_001408403.1:c.1076C>G
- NM_001408404.1:c.1076C>G
- NM_001408406.1:c.1073C>G
- NM_001408407.1:c.1073C>G
- NM_001408408.1:c.1073C>G
- NM_001408409.1:c.1070C>G
- NM_001408410.1:c.1007C>G
- NM_001408411.1:c.1004C>G
- NM_001408412.1:c.1001C>G
- NM_001408413.1:c.1001C>G
- NM_001408414.1:c.1001C>G
- NM_001408415.1:c.1001C>G
- NM_001408416.1:c.1001C>G
- NM_001408418.1:c.965C>G
- NM_001408419.1:c.965C>G
- NM_001408420.1:c.965C>G
- NM_001408421.1:c.962C>G
- NM_001408422.1:c.962C>G
- NM_001408423.1:c.962C>G
- NM_001408424.1:c.962C>G
- NM_001408425.1:c.959C>G
- NM_001408426.1:c.959C>G
- NM_001408427.1:c.959C>G
- NM_001408428.1:c.959C>G
- NM_001408429.1:c.959C>G
- NM_001408430.1:c.959C>G
- NM_001408431.1:c.959C>G
- NM_001408432.1:c.956C>G
- NM_001408433.1:c.956C>G
- NM_001408434.1:c.956C>G
- NM_001408435.1:c.956C>G
- NM_001408436.1:c.956C>G
- NM_001408437.1:c.956C>G
- NM_001408438.1:c.956C>G
- NM_001408439.1:c.956C>G
- NM_001408440.1:c.956C>G
- NM_001408441.1:c.956C>G
- NM_001408442.1:c.956C>G
- NM_001408443.1:c.956C>G
- NM_001408444.1:c.956C>G
- NM_001408445.1:c.953C>G
- NM_001408446.1:c.953C>G
- NM_001408447.1:c.953C>G
- NM_001408448.1:c.953C>G
- NM_001408450.1:c.953C>G
- NM_001408451.1:c.947C>G
- NM_001408452.1:c.941C>G
- NM_001408453.1:c.941C>G
- NM_001408454.1:c.941C>G
- NM_001408455.1:c.941C>G
- NM_001408456.1:c.941C>G
- NM_001408457.1:c.941C>G
- NM_001408458.1:c.938C>G
- NM_001408459.1:c.938C>G
- NM_001408460.1:c.938C>G
- NM_001408461.1:c.938C>G
- NM_001408462.1:c.938C>G
- NM_001408463.1:c.938C>G
- NM_001408464.1:c.938C>G
- NM_001408465.1:c.938C>G
- NM_001408466.1:c.938C>G
- NM_001408467.1:c.938C>G
- NM_001408468.1:c.935C>G
- NM_001408469.1:c.935C>G
- NM_001408470.1:c.935C>G
- NM_001408472.1:c.1079C>G
- NM_001408473.1:c.1076C>G
- NM_001408474.1:c.881C>G
- NM_001408475.1:c.878C>G
- NM_001408476.1:c.878C>G
- NM_001408478.1:c.872C>G
- NM_001408479.1:c.872C>G
- NM_001408480.1:c.872C>G
- NM_001408481.1:c.869C>G
- NM_001408482.1:c.869C>G
- NM_001408483.1:c.869C>G
- NM_001408484.1:c.869C>G
- NM_001408485.1:c.869C>G
- NM_001408489.1:c.869C>G
- NM_001408490.1:c.869C>G
- NM_001408491.1:c.869C>G
- NM_001408492.1:c.866C>G
- NM_001408493.1:c.866C>G
- NM_001408494.1:c.842C>G
- NM_001408495.1:c.836C>G
- NM_001408496.1:c.818C>G
- NM_001408497.1:c.818C>G
- NM_001408498.1:c.818C>G
- NM_001408499.1:c.818C>G
- NM_001408500.1:c.818C>G
- NM_001408501.1:c.818C>G
- NM_001408502.1:c.815C>G
- NM_001408503.1:c.815C>G
- NM_001408504.1:c.815C>G
- NM_001408505.1:c.812C>G
- NM_001408506.1:c.755C>G
- NM_001408507.1:c.752C>G
- NM_001408508.1:c.743C>G
- NM_001408509.1:c.740C>G
- NM_001408510.1:c.701C>G
- NM_001408511.1:c.698C>G
- NM_001408512.1:c.578C>G
- NM_007294.4:c.4391C>GMANE SELECT
- NM_007297.4:c.4250C>G
- NM_007298.4:c.1079C>G
- NM_007299.4:c.1079C>G
- NM_007300.4:c.4454C>G
- NM_007304.2:c.1079C>G
- NP_001394500.1:p.Pro1393Arg
- NP_001394510.1:p.Pro1486Arg
- NP_001394511.1:p.Pro1486Arg
- NP_001394512.1:p.Pro1485Arg
- NP_001394514.1:p.Pro1485Arg
- NP_001394516.1:p.Pro1485Arg
- NP_001394519.1:p.Pro1484Arg
- NP_001394520.1:p.Pro1484Arg
- NP_001394522.1:p.Pro1464Arg
- NP_001394523.1:p.Pro1464Arg
- NP_001394525.1:p.Pro1464Arg
- NP_001394526.1:p.Pro1464Arg
- NP_001394527.1:p.Pro1464Arg
- NP_001394531.1:p.Pro1464Arg
- NP_001394532.1:p.Pro1464Arg
- NP_001394534.1:p.Pro1464Arg
- NP_001394539.1:p.Pro1463Arg
- NP_001394540.1:p.Pro1463Arg
- NP_001394541.1:p.Pro1463Arg
- NP_001394542.1:p.Pro1463Arg
- NP_001394543.1:p.Pro1463Arg
- NP_001394544.1:p.Pro1463Arg
- NP_001394545.1:p.Pro1463Arg
- NP_001394546.1:p.Pro1463Arg
- NP_001394547.1:p.Pro1463Arg
- NP_001394548.1:p.Pro1463Arg
- NP_001394549.1:p.Pro1463Arg
- NP_001394550.1:p.Pro1463Arg
- NP_001394551.1:p.Pro1463Arg
- NP_001394552.1:p.Pro1463Arg
- NP_001394553.1:p.Pro1463Arg
- NP_001394554.1:p.Pro1463Arg
- NP_001394555.1:p.Pro1463Arg
- NP_001394556.1:p.Pro1462Arg
- NP_001394557.1:p.Pro1462Arg
- NP_001394558.1:p.Pro1462Arg
- NP_001394559.1:p.Pro1462Arg
- NP_001394560.1:p.Pro1462Arg
- NP_001394561.1:p.Pro1462Arg
- NP_001394562.1:p.Pro1462Arg
- NP_001394563.1:p.Pro1462Arg
- NP_001394564.1:p.Pro1462Arg
- NP_001394565.1:p.Pro1462Arg
- NP_001394566.1:p.Pro1462Arg
- NP_001394567.1:p.Pro1462Arg
- NP_001394568.1:p.Pro1462Arg
- NP_001394569.1:p.Pro1462Arg
- NP_001394570.1:p.Pro1462Arg
- NP_001394571.1:p.Pro1462Arg
- NP_001394573.1:p.Pro1461Arg
- NP_001394574.1:p.Pro1461Arg
- NP_001394575.1:p.Pro1460Arg
- NP_001394576.1:p.Pro1459Arg
- NP_001394577.1:p.Pro1445Arg
- NP_001394578.1:p.Pro1444Arg
- NP_001394581.1:p.Pro1464Arg
- NP_001394582.1:p.Pro1438Arg
- NP_001394583.1:p.Pro1438Arg
- NP_001394584.1:p.Pro1438Arg
- NP_001394585.1:p.Pro1437Arg
- NP_001394586.1:p.Pro1437Arg
- NP_001394587.1:p.Pro1437Arg
- NP_001394588.1:p.Pro1436Arg
- NP_001394589.1:p.Pro1436Arg
- NP_001394590.1:p.Pro1436Arg
- NP_001394591.1:p.Pro1436Arg
- NP_001394592.1:p.Pro1436Arg
- NP_001394593.1:p.Pro1423Arg
- NP_001394594.1:p.Pro1423Arg
- NP_001394595.1:p.Pro1423Arg
- NP_001394596.1:p.Pro1423Arg
- NP_001394597.1:p.Pro1423Arg
- NP_001394598.1:p.Pro1423Arg
- NP_001394599.1:p.Pro1422Arg
- NP_001394600.1:p.Pro1422Arg
- NP_001394601.1:p.Pro1422Arg
- NP_001394602.1:p.Pro1422Arg
- NP_001394603.1:p.Pro1422Arg
- NP_001394604.1:p.Pro1422Arg
- NP_001394605.1:p.Pro1422Arg
- NP_001394606.1:p.Pro1422Arg
- NP_001394607.1:p.Pro1422Arg
- NP_001394608.1:p.Pro1422Arg
- NP_001394609.1:p.Pro1422Arg
- NP_001394610.1:p.Pro1421Arg
- NP_001394611.1:p.Pro1421Arg
- NP_001394612.1:p.Pro1421Arg
- NP_001394613.1:p.Pro1464Arg
- NP_001394614.1:p.Pro1421Arg
- NP_001394615.1:p.Pro1421Arg
- NP_001394616.1:p.Pro1421Arg
- NP_001394617.1:p.Pro1421Arg
- NP_001394618.1:p.Pro1421Arg
- NP_001394619.1:p.Pro1420Arg
- NP_001394620.1:p.Pro1420Arg
- NP_001394621.1:p.Pro1417Arg
- NP_001394623.1:p.Pro1417Arg
- NP_001394624.1:p.Pro1417Arg
- NP_001394625.1:p.Pro1417Arg
- NP_001394626.1:p.Pro1417Arg
- NP_001394627.1:p.Pro1417Arg
- NP_001394653.1:p.Pro1417Arg
- NP_001394654.1:p.Pro1417Arg
- NP_001394655.1:p.Pro1417Arg
- NP_001394656.1:p.Pro1417Arg
- NP_001394657.1:p.Pro1417Arg
- NP_001394658.1:p.Pro1417Arg
- NP_001394659.1:p.Pro1417Arg
- NP_001394660.1:p.Pro1417Arg
- NP_001394661.1:p.Pro1416Arg
- NP_001394662.1:p.Pro1416Arg
- NP_001394663.1:p.Pro1416Arg
- NP_001394664.1:p.Pro1416Arg
- NP_001394665.1:p.Pro1416Arg
- NP_001394666.1:p.Pro1416Arg
- NP_001394667.1:p.Pro1416Arg
- NP_001394668.1:p.Pro1416Arg
- NP_001394669.1:p.Pro1416Arg
- NP_001394670.1:p.Pro1416Arg
- NP_001394671.1:p.Pro1416Arg
- NP_001394672.1:p.Pro1416Arg
- NP_001394673.1:p.Pro1416Arg
- NP_001394674.1:p.Pro1416Arg
- NP_001394675.1:p.Pro1416Arg
- NP_001394676.1:p.Pro1416Arg
- NP_001394677.1:p.Pro1416Arg
- NP_001394678.1:p.Pro1416Arg
- NP_001394679.1:p.Pro1416Arg
- NP_001394680.1:p.Pro1416Arg
- NP_001394681.1:p.Pro1416Arg
- NP_001394767.1:p.Pro1415Arg
- NP_001394768.1:p.Pro1415Arg
- NP_001394770.1:p.Pro1415Arg
- NP_001394771.1:p.Pro1415Arg
- NP_001394772.1:p.Pro1415Arg
- NP_001394773.1:p.Pro1415Arg
- NP_001394774.1:p.Pro1415Arg
- NP_001394775.1:p.Pro1415Arg
- NP_001394776.1:p.Pro1415Arg
- NP_001394777.1:p.Pro1415Arg
- NP_001394778.1:p.Pro1415Arg
- NP_001394779.1:p.Pro1415Arg
- NP_001394780.1:p.Pro1415Arg
- NP_001394781.1:p.Pro1415Arg
- NP_001394782.1:p.Pro1415Arg
- NP_001394783.1:p.Pro1464Arg
- NP_001394787.1:p.Pro1463Arg
- NP_001394788.1:p.Pro1463Arg
- NP_001394789.1:p.Pro1463Arg
- NP_001394790.1:p.Pro1462Arg
- NP_001394791.1:p.Pro1397Arg
- NP_001394792.1:p.Pro1422Arg
- NP_001394803.1:p.Pro1395Arg
- NP_001394804.1:p.Pro1395Arg
- NP_001394808.1:p.Pro1394Arg
- NP_001394810.1:p.Pro1394Arg
- NP_001394811.1:p.Pro1394Arg
- NP_001394813.1:p.Pro1394Arg
- NP_001394814.1:p.Pro1394Arg
- NP_001394815.1:p.Pro1394Arg
- NP_001394816.1:p.Pro1394Arg
- NP_001394818.1:p.Pro1394Arg
- NP_001394823.1:p.Pro1393Arg
- NP_001394824.1:p.Pro1393Arg
- NP_001394825.1:p.Pro1393Arg
- NP_001394826.1:p.Pro1393Arg
- NP_001394827.1:p.Pro1393Arg
- NP_001394828.1:p.Pro1393Arg
- NP_001394829.1:p.Pro1393Arg
- NP_001394831.1:p.Pro1393Arg
- NP_001394833.1:p.Pro1393Arg
- NP_001394835.1:p.Pro1393Arg
- NP_001394836.1:p.Pro1393Arg
- NP_001394837.1:p.Pro1393Arg
- NP_001394838.1:p.Pro1393Arg
- NP_001394839.1:p.Pro1393Arg
- NP_001394844.1:p.Pro1392Arg
- NP_001394845.1:p.Pro1392Arg
- NP_001394846.1:p.Pro1392Arg
- NP_001394847.1:p.Pro1392Arg
- NP_001394848.1:p.Pro1423Arg
- NP_001394849.1:p.Pro1376Arg
- NP_001394850.1:p.Pro1376Arg
- NP_001394851.1:p.Pro1376Arg
- NP_001394852.1:p.Pro1376Arg
- NP_001394853.1:p.Pro1376Arg
- NP_001394854.1:p.Pro1376Arg
- NP_001394855.1:p.Pro1376Arg
- NP_001394856.1:p.Pro1375Arg
- NP_001394857.1:p.Pro1375Arg
- NP_001394858.1:p.Pro1375Arg
- NP_001394859.1:p.Pro1375Arg
- NP_001394860.1:p.Pro1375Arg
- NP_001394861.1:p.Pro1375Arg
- NP_001394862.1:p.Pro1375Arg
- NP_001394863.1:p.Pro1374Arg
- NP_001394864.1:p.Pro1374Arg
- NP_001394865.1:p.Pro1374Arg
- NP_001394866.1:p.Pro1423Arg
- NP_001394867.1:p.Pro1423Arg
- NP_001394868.1:p.Pro1422Arg
- NP_001394869.1:p.Pro1422Arg
- NP_001394870.1:p.Pro1421Arg
- NP_001394871.1:p.Pro1417Arg
- NP_001394872.1:p.Pro1416Arg
- NP_001394873.1:p.Pro1416Arg
- NP_001394874.1:p.Pro1416Arg
- NP_001394875.1:p.Pro1353Arg
- NP_001394876.1:p.Pro1353Arg
- NP_001394877.1:p.Pro1353Arg
- NP_001394878.1:p.Pro1353Arg
- NP_001394879.1:p.Pro1352Arg
- NP_001394880.1:p.Pro1352Arg
- NP_001394881.1:p.Pro1352Arg
- NP_001394882.1:p.Pro1352Arg
- NP_001394883.1:p.Pro1352Arg
- NP_001394884.1:p.Pro1352Arg
- NP_001394885.1:p.Pro1351Arg
- NP_001394886.1:p.Pro1351Arg
- NP_001394887.1:p.Pro1351Arg
- NP_001394888.1:p.Pro1337Arg
- NP_001394889.1:p.Pro1336Arg
- NP_001394891.1:p.Pro1336Arg
- NP_001394892.1:p.Pro1335Arg
- NP_001394894.1:p.Pro1295Arg
- NP_001394895.1:p.Pro1168Arg
- NP_001394896.1:p.Pro1167Arg
- NP_001394897.1:p.Pro596Arg
- NP_001394898.1:p.Pro595Arg
- NP_001394899.1:p.Pro383Arg
- NP_001394900.1:p.Pro383Arg
- NP_001394901.1:p.Pro382Arg
- NP_001394902.1:p.Pro361Arg
- NP_001394903.1:p.Pro361Arg
- NP_001394904.1:p.Pro361Arg
- NP_001394905.1:p.Pro361Arg
- NP_001394906.1:p.Pro361Arg
- NP_001394907.1:p.Pro361Arg
- NP_001394908.1:p.Pro360Arg
- NP_001394909.1:p.Pro360Arg
- NP_001394910.1:p.Pro360Arg
- NP_001394911.1:p.Pro360Arg
- NP_001394912.1:p.Pro360Arg
- NP_001394913.1:p.Pro360Arg
- NP_001394914.1:p.Pro360Arg
- NP_001394915.1:p.Pro360Arg
- NP_001394919.1:p.Pro360Arg
- NP_001394920.1:p.Pro360Arg
- NP_001394921.1:p.Pro360Arg
- NP_001394922.1:p.Pro360Arg
- NP_001395321.1:p.Pro359Arg
- NP_001395325.1:p.Pro359Arg
- NP_001395326.1:p.Pro359Arg
- NP_001395327.1:p.Pro359Arg
- NP_001395328.1:p.Pro359Arg
- NP_001395329.1:p.Pro359Arg
- NP_001395330.1:p.Pro359Arg
- NP_001395331.1:p.Pro359Arg
- NP_001395332.1:p.Pro359Arg
- NP_001395333.1:p.Pro359Arg
- NP_001395335.1:p.Pro358Arg
- NP_001395336.1:p.Pro358Arg
- NP_001395337.1:p.Pro358Arg
- NP_001395338.1:p.Pro357Arg
- NP_001395339.1:p.Pro336Arg
- NP_001395340.1:p.Pro335Arg
- NP_001395341.1:p.Pro334Arg
- NP_001395342.1:p.Pro334Arg
- NP_001395343.1:p.Pro334Arg
- NP_001395344.1:p.Pro334Arg
- NP_001395345.1:p.Pro334Arg
- NP_001395347.1:p.Pro322Arg
- NP_001395348.1:p.Pro322Arg
- NP_001395349.1:p.Pro322Arg
- NP_001395350.1:p.Pro321Arg
- NP_001395351.1:p.Pro321Arg
- NP_001395352.1:p.Pro321Arg
- NP_001395353.1:p.Pro321Arg
- NP_001395354.1:p.Pro320Arg
- NP_001395355.1:p.Pro320Arg
- NP_001395356.1:p.Pro320Arg
- NP_001395357.1:p.Pro320Arg
- NP_001395358.1:p.Pro320Arg
- NP_001395359.1:p.Pro320Arg
- NP_001395360.1:p.Pro320Arg
- NP_001395361.1:p.Pro319Arg
- NP_001395362.1:p.Pro319Arg
- NP_001395363.1:p.Pro319Arg
- NP_001395364.1:p.Pro319Arg
- NP_001395365.1:p.Pro319Arg
- NP_001395366.1:p.Pro319Arg
- NP_001395367.1:p.Pro319Arg
- NP_001395368.1:p.Pro319Arg
- NP_001395369.1:p.Pro319Arg
- NP_001395370.1:p.Pro319Arg
- NP_001395371.1:p.Pro319Arg
- NP_001395372.1:p.Pro319Arg
- NP_001395373.1:p.Pro319Arg
- NP_001395374.1:p.Pro318Arg
- NP_001395375.1:p.Pro318Arg
- NP_001395376.1:p.Pro318Arg
- NP_001395377.1:p.Pro318Arg
- NP_001395379.1:p.Pro318Arg
- NP_001395380.1:p.Pro316Arg
- NP_001395381.1:p.Pro314Arg
- NP_001395382.1:p.Pro314Arg
- NP_001395383.1:p.Pro314Arg
- NP_001395384.1:p.Pro314Arg
- NP_001395385.1:p.Pro314Arg
- NP_001395386.1:p.Pro314Arg
- NP_001395387.1:p.Pro313Arg
- NP_001395388.1:p.Pro313Arg
- NP_001395389.1:p.Pro313Arg
- NP_001395390.1:p.Pro313Arg
- NP_001395391.1:p.Pro313Arg
- NP_001395392.1:p.Pro313Arg
- NP_001395393.1:p.Pro313Arg
- NP_001395394.1:p.Pro313Arg
- NP_001395395.1:p.Pro313Arg
- NP_001395396.1:p.Pro313Arg
- NP_001395397.1:p.Pro312Arg
- NP_001395398.1:p.Pro312Arg
- NP_001395399.1:p.Pro312Arg
- NP_001395401.1:p.Pro360Arg
- NP_001395402.1:p.Pro359Arg
- NP_001395403.1:p.Pro294Arg
- NP_001395404.1:p.Pro293Arg
- NP_001395405.1:p.Pro293Arg
- NP_001395407.1:p.Pro291Arg
- NP_001395408.1:p.Pro291Arg
- NP_001395409.1:p.Pro291Arg
- NP_001395410.1:p.Pro290Arg
- NP_001395411.1:p.Pro290Arg
- NP_001395412.1:p.Pro290Arg
- NP_001395413.1:p.Pro290Arg
- NP_001395414.1:p.Pro290Arg
- NP_001395418.1:p.Pro290Arg
- NP_001395419.1:p.Pro290Arg
- NP_001395420.1:p.Pro290Arg
- NP_001395421.1:p.Pro289Arg
- NP_001395422.1:p.Pro289Arg
- NP_001395423.1:p.Pro281Arg
- NP_001395424.1:p.Pro279Arg
- NP_001395425.1:p.Pro273Arg
- NP_001395426.1:p.Pro273Arg
- NP_001395427.1:p.Pro273Arg
- NP_001395428.1:p.Pro273Arg
- NP_001395429.1:p.Pro273Arg
- NP_001395430.1:p.Pro273Arg
- NP_001395431.1:p.Pro272Arg
- NP_001395432.1:p.Pro272Arg
- NP_001395433.1:p.Pro272Arg
- NP_001395434.1:p.Pro271Arg
- NP_001395435.1:p.Pro252Arg
- NP_001395436.1:p.Pro251Arg
- NP_001395437.1:p.Pro248Arg
- NP_001395438.1:p.Pro247Arg
- NP_001395439.1:p.Pro234Arg
- NP_001395440.1:p.Pro233Arg
- NP_001395441.1:p.Pro193Arg
- NP_009225.1:p.Pro1464Arg
- NP_009225.1:p.Pro1464Arg
- NP_009228.2:p.Pro1417Arg
- NP_009229.2:p.Pro360Arg
- NP_009229.2:p.Pro360Arg
- NP_009230.2:p.Pro360Arg
- NP_009231.2:p.Pro1485Arg
- NP_009235.2:p.Pro360Arg
- LRG_292t1:c.4391C>G
- LRG_292:g.141403C>G
- LRG_292p1:p.Pro1464Arg
- NC_000017.10:g.41228598G>C
- NM_007294.3:c.4391C>G
- NM_007298.3:c.1079C>G
- NR_027676.2:n.4568C>G
This HGVS expression did not pass validation- Protein change:
- P1167R
- Links:
- dbSNP: rs2052738000
- NCBI 1000 Genomes Browser:
- rs2052738000
- Molecular consequence:
- NM_001407571.1:c.4178C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407581.1:c.4457C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407582.1:c.4457C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407583.1:c.4454C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407585.1:c.4454C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407587.1:c.4454C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407590.1:c.4451C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407591.1:c.4451C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407593.1:c.4391C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407594.1:c.4391C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407596.1:c.4391C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407597.1:c.4391C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407598.1:c.4391C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407602.1:c.4391C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407603.1:c.4391C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407605.1:c.4391C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407610.1:c.4388C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407611.1:c.4388C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407612.1:c.4388C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407613.1:c.4388C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407614.1:c.4388C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407615.1:c.4388C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407616.1:c.4388C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407617.1:c.4388C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407618.1:c.4388C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407619.1:c.4388C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407620.1:c.4388C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407621.1:c.4388C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407622.1:c.4388C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407623.1:c.4388C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407624.1:c.4388C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407625.1:c.4388C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407626.1:c.4388C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407627.1:c.4385C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407628.1:c.4385C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407629.1:c.4385C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407630.1:c.4385C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407631.1:c.4385C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407632.1:c.4385C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407633.1:c.4385C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407634.1:c.4385C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407635.1:c.4385C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407636.1:c.4385C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407637.1:c.4385C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407638.1:c.4385C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407639.1:c.4385C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407640.1:c.4385C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407641.1:c.4385C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407642.1:c.4385C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407644.1:c.4382C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407645.1:c.4382C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407646.1:c.4379C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407647.1:c.4376C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407648.1:c.4334C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407649.1:c.4331C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407652.1:c.4391C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407653.1:c.4313C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407654.1:c.4313C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407655.1:c.4313C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407656.1:c.4310C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407657.1:c.4310C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407658.1:c.4310C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407659.1:c.4307C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407660.1:c.4307C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407661.1:c.4307C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407662.1:c.4307C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407663.1:c.4307C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407664.1:c.4268C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407665.1:c.4268C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407666.1:c.4268C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407667.1:c.4268C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407668.1:c.4268C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407669.1:c.4268C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407670.1:c.4265C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407671.1:c.4265C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407672.1:c.4265C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407673.1:c.4265C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407674.1:c.4265C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407675.1:c.4265C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407676.1:c.4265C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407677.1:c.4265C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407678.1:c.4265C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407679.1:c.4265C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407680.1:c.4265C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407681.1:c.4262C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407682.1:c.4262C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407683.1:c.4262C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407684.1:c.4391C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407685.1:c.4262C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407686.1:c.4262C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407687.1:c.4262C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407688.1:c.4262C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407689.1:c.4262C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407690.1:c.4259C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407691.1:c.4259C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407692.1:c.4250C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407694.1:c.4250C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407695.1:c.4250C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407696.1:c.4250C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407697.1:c.4250C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407698.1:c.4250C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407724.1:c.4250C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407725.1:c.4250C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407726.1:c.4250C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407727.1:c.4250C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407728.1:c.4250C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407729.1:c.4250C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407730.1:c.4250C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407731.1:c.4250C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407732.1:c.4247C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407733.1:c.4247C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407734.1:c.4247C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407735.1:c.4247C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407736.1:c.4247C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407737.1:c.4247C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407738.1:c.4247C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407739.1:c.4247C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407740.1:c.4247C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407741.1:c.4247C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407742.1:c.4247C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407743.1:c.4247C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407744.1:c.4247C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407745.1:c.4247C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407746.1:c.4247C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407747.1:c.4247C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407748.1:c.4247C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407749.1:c.4247C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407750.1:c.4247C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407751.1:c.4247C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407752.1:c.4247C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407838.1:c.4244C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407839.1:c.4244C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407841.1:c.4244C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407842.1:c.4244C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407843.1:c.4244C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407844.1:c.4244C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407845.1:c.4244C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407846.1:c.4244C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407847.1:c.4244C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407848.1:c.4244C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407849.1:c.4244C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407850.1:c.4244C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407851.1:c.4244C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407852.1:c.4244C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407853.1:c.4244C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407854.1:c.4391C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407858.1:c.4388C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407859.1:c.4388C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407860.1:c.4388C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407861.1:c.4385C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407862.1:c.4190C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407863.1:c.4265C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407874.1:c.4184C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407875.1:c.4184C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407879.1:c.4181C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407881.1:c.4181C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407882.1:c.4181C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407884.1:c.4181C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407885.1:c.4181C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407886.1:c.4181C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407887.1:c.4181C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407889.1:c.4181C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407894.1:c.4178C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407895.1:c.4178C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407896.1:c.4178C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407897.1:c.4178C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407898.1:c.4178C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407899.1:c.4178C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407900.1:c.4178C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407902.1:c.4178C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407904.1:c.4178C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407906.1:c.4178C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407907.1:c.4178C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407908.1:c.4178C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407909.1:c.4178C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407910.1:c.4178C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407915.1:c.4175C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407916.1:c.4175C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407917.1:c.4175C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407918.1:c.4175C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407919.1:c.4268C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407920.1:c.4127C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407921.1:c.4127C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407922.1:c.4127C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407923.1:c.4127C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407924.1:c.4127C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407925.1:c.4127C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407926.1:c.4127C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407927.1:c.4124C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407928.1:c.4124C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407929.1:c.4124C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407930.1:c.4124C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407931.1:c.4124C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407932.1:c.4124C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407933.1:c.4124C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407934.1:c.4121C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407935.1:c.4121C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407936.1:c.4121C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407937.1:c.4268C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407938.1:c.4268C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407939.1:c.4265C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407940.1:c.4265C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407941.1:c.4262C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407942.1:c.4250C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407943.1:c.4247C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407944.1:c.4247C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407945.1:c.4247C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407946.1:c.4058C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407947.1:c.4058C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407948.1:c.4058C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407949.1:c.4058C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407950.1:c.4055C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407951.1:c.4055C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407952.1:c.4055C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407953.1:c.4055C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407954.1:c.4055C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407955.1:c.4055C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407956.1:c.4052C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407957.1:c.4052C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407958.1:c.4052C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407959.1:c.4010C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407960.1:c.4007C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407962.1:c.4007C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407963.1:c.4004C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407965.1:c.3884C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407966.1:c.3503C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407967.1:c.3500C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407968.1:c.1787C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407969.1:c.1784C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407970.1:c.1148C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407971.1:c.1148C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407972.1:c.1145C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407973.1:c.1082C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407974.1:c.1082C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407975.1:c.1082C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407976.1:c.1082C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407977.1:c.1082C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407978.1:c.1082C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407979.1:c.1079C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407980.1:c.1079C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407981.1:c.1079C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407982.1:c.1079C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407983.1:c.1079C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407984.1:c.1079C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407985.1:c.1079C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407986.1:c.1079C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407990.1:c.1079C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407991.1:c.1079C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407992.1:c.1079C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407993.1:c.1079C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408392.1:c.1076C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408396.1:c.1076C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408397.1:c.1076C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408398.1:c.1076C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408399.1:c.1076C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408400.1:c.1076C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408401.1:c.1076C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408402.1:c.1076C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408403.1:c.1076C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408404.1:c.1076C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408406.1:c.1073C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408407.1:c.1073C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408408.1:c.1073C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408409.1:c.1070C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408410.1:c.1007C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408411.1:c.1004C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408412.1:c.1001C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408413.1:c.1001C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408414.1:c.1001C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408415.1:c.1001C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408416.1:c.1001C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408418.1:c.965C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408419.1:c.965C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408420.1:c.965C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408421.1:c.962C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408422.1:c.962C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408423.1:c.962C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408424.1:c.962C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408425.1:c.959C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408426.1:c.959C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408427.1:c.959C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408428.1:c.959C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408429.1:c.959C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408430.1:c.959C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408431.1:c.959C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408432.1:c.956C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408433.1:c.956C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408434.1:c.956C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408435.1:c.956C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408436.1:c.956C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408437.1:c.956C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408438.1:c.956C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408439.1:c.956C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408440.1:c.956C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408441.1:c.956C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408442.1:c.956C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408443.1:c.956C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408444.1:c.956C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408445.1:c.953C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408446.1:c.953C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408447.1:c.953C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408448.1:c.953C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408450.1:c.953C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408451.1:c.947C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408452.1:c.941C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408453.1:c.941C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408454.1:c.941C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408455.1:c.941C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408456.1:c.941C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408457.1:c.941C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408458.1:c.938C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408459.1:c.938C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408460.1:c.938C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408461.1:c.938C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408462.1:c.938C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408463.1:c.938C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408464.1:c.938C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408465.1:c.938C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408466.1:c.938C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408467.1:c.938C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408468.1:c.935C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408469.1:c.935C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408470.1:c.935C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408472.1:c.1079C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408473.1:c.1076C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408474.1:c.881C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408475.1:c.878C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408476.1:c.878C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408478.1:c.872C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408479.1:c.872C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408480.1:c.872C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408481.1:c.869C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408482.1:c.869C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408483.1:c.869C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408484.1:c.869C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408485.1:c.869C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408489.1:c.869C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408490.1:c.869C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408491.1:c.869C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408492.1:c.866C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408493.1:c.866C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408494.1:c.842C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408495.1:c.836C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408496.1:c.818C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408497.1:c.818C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408498.1:c.818C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408499.1:c.818C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408500.1:c.818C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408501.1:c.818C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408502.1:c.815C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408503.1:c.815C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408504.1:c.815C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408505.1:c.812C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408506.1:c.755C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408507.1:c.752C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408508.1:c.743C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408509.1:c.740C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408510.1:c.701C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408511.1:c.698C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408512.1:c.578C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007294.4:c.4391C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007297.4:c.4250C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007298.4:c.1079C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007299.4:c.1079C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007300.4:c.4454C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007304.2:c.1079C>G - missense variant - [Sequence Ontology: SO:0001583]
- NR_027676.2:n.4568C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Condition(s)
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV004018670 | Myriad Genetics, Inc. | criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023)) | Likely benign (Jun 12, 2023) | unknown | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | unknown | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing |
Citations
PubMed
Pruss D, Morris B, Hughes E, Eggington JM, Esterling L, Robinson BS, van Kan A, Fernandes PH, Roa BB, Gutin A, Wenstrup RJ, Bowles KR.
Breast Cancer Res Treat. 2014 Aug;147(1):119-32. doi: 10.1007/s10549-014-3065-9. Epub 2014 Aug 2.
PubMed [citation]
- PMID:
- 25085752
Details of each submission
From Myriad Genetics, Inc., SCV004018670.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
Description
This variant is considered likely benign. This variant is strongly associated with less severe personal and family histories of cancer, typical for individuals without pathogenic variants in this gene [PMID: 25085752].
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | unknown | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
Last Updated: Oct 8, 2024