NM_007294.4(BRCA1):c.4389C>A (p.Tyr1463Ter) AND not provided
- Germline classification:
- Pathogenic (4 submissions)
- Last evaluated:
- Feb 6, 2024
- Review status:
- 2 stars out of maximum of 4 starscriteria provided, multiple submitters, no conflicts
- 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:
- RCV000236736.14
Allele description [Variation Report for NM_007294.4(BRCA1):c.4389C>A (p.Tyr1463Ter)]
NM_007294.4(BRCA1):c.4389C>A (p.Tyr1463Ter)
- 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.4389C>A (p.Tyr1463Ter)
- HGVS:
- NC_000017.11:g.43076583G>T
- NG_005905.2:g.141401C>A
- NM_001407571.1:c.4176C>A
- NM_001407581.1:c.4455C>A
- NM_001407582.1:c.4455C>A
- NM_001407583.1:c.4452C>A
- NM_001407585.1:c.4452C>A
- NM_001407587.1:c.4452C>A
- NM_001407590.1:c.4449C>A
- NM_001407591.1:c.4449C>A
- NM_001407593.1:c.4389C>A
- NM_001407594.1:c.4389C>A
- NM_001407596.1:c.4389C>A
- NM_001407597.1:c.4389C>A
- NM_001407598.1:c.4389C>A
- NM_001407602.1:c.4389C>A
- NM_001407603.1:c.4389C>A
- NM_001407605.1:c.4389C>A
- NM_001407610.1:c.4386C>A
- NM_001407611.1:c.4386C>A
- NM_001407612.1:c.4386C>A
- NM_001407613.1:c.4386C>A
- NM_001407614.1:c.4386C>A
- NM_001407615.1:c.4386C>A
- NM_001407616.1:c.4386C>A
- NM_001407617.1:c.4386C>A
- NM_001407618.1:c.4386C>A
- NM_001407619.1:c.4386C>A
- NM_001407620.1:c.4386C>A
- NM_001407621.1:c.4386C>A
- NM_001407622.1:c.4386C>A
- NM_001407623.1:c.4386C>A
- NM_001407624.1:c.4386C>A
- NM_001407625.1:c.4386C>A
- NM_001407626.1:c.4386C>A
- NM_001407627.1:c.4383C>A
- NM_001407628.1:c.4383C>A
- NM_001407629.1:c.4383C>A
- NM_001407630.1:c.4383C>A
- NM_001407631.1:c.4383C>A
- NM_001407632.1:c.4383C>A
- NM_001407633.1:c.4383C>A
- NM_001407634.1:c.4383C>A
- NM_001407635.1:c.4383C>A
- NM_001407636.1:c.4383C>A
- NM_001407637.1:c.4383C>A
- NM_001407638.1:c.4383C>A
- NM_001407639.1:c.4383C>A
- NM_001407640.1:c.4383C>A
- NM_001407641.1:c.4383C>A
- NM_001407642.1:c.4383C>A
- NM_001407644.1:c.4380C>A
- NM_001407645.1:c.4380C>A
- NM_001407646.1:c.4377C>A
- NM_001407647.1:c.4374C>A
- NM_001407648.1:c.4332C>A
- NM_001407649.1:c.4329C>A
- NM_001407652.1:c.4389C>A
- NM_001407653.1:c.4311C>A
- NM_001407654.1:c.4311C>A
- NM_001407655.1:c.4311C>A
- NM_001407656.1:c.4308C>A
- NM_001407657.1:c.4308C>A
- NM_001407658.1:c.4308C>A
- NM_001407659.1:c.4305C>A
- NM_001407660.1:c.4305C>A
- NM_001407661.1:c.4305C>A
- NM_001407662.1:c.4305C>A
- NM_001407663.1:c.4305C>A
- NM_001407664.1:c.4266C>A
- NM_001407665.1:c.4266C>A
- NM_001407666.1:c.4266C>A
- NM_001407667.1:c.4266C>A
- NM_001407668.1:c.4266C>A
- NM_001407669.1:c.4266C>A
- NM_001407670.1:c.4263C>A
- NM_001407671.1:c.4263C>A
- NM_001407672.1:c.4263C>A
- NM_001407673.1:c.4263C>A
- NM_001407674.1:c.4263C>A
- NM_001407675.1:c.4263C>A
- NM_001407676.1:c.4263C>A
- NM_001407677.1:c.4263C>A
- NM_001407678.1:c.4263C>A
- NM_001407679.1:c.4263C>A
- NM_001407680.1:c.4263C>A
- NM_001407681.1:c.4260C>A
- NM_001407682.1:c.4260C>A
- NM_001407683.1:c.4260C>A
- NM_001407684.1:c.4389C>A
- NM_001407685.1:c.4260C>A
- NM_001407686.1:c.4260C>A
- NM_001407687.1:c.4260C>A
- NM_001407688.1:c.4260C>A
- NM_001407689.1:c.4260C>A
- NM_001407690.1:c.4257C>A
- NM_001407691.1:c.4257C>A
- NM_001407692.1:c.4248C>A
- NM_001407694.1:c.4248C>A
- NM_001407695.1:c.4248C>A
- NM_001407696.1:c.4248C>A
- NM_001407697.1:c.4248C>A
- NM_001407698.1:c.4248C>A
- NM_001407724.1:c.4248C>A
- NM_001407725.1:c.4248C>A
- NM_001407726.1:c.4248C>A
- NM_001407727.1:c.4248C>A
- NM_001407728.1:c.4248C>A
- NM_001407729.1:c.4248C>A
- NM_001407730.1:c.4248C>A
- NM_001407731.1:c.4248C>A
- NM_001407732.1:c.4245C>A
- NM_001407733.1:c.4245C>A
- NM_001407734.1:c.4245C>A
- NM_001407735.1:c.4245C>A
- NM_001407736.1:c.4245C>A
- NM_001407737.1:c.4245C>A
- NM_001407738.1:c.4245C>A
- NM_001407739.1:c.4245C>A
- NM_001407740.1:c.4245C>A
- NM_001407741.1:c.4245C>A
- NM_001407742.1:c.4245C>A
- NM_001407743.1:c.4245C>A
- NM_001407744.1:c.4245C>A
- NM_001407745.1:c.4245C>A
- NM_001407746.1:c.4245C>A
- NM_001407747.1:c.4245C>A
- NM_001407748.1:c.4245C>A
- NM_001407749.1:c.4245C>A
- NM_001407750.1:c.4245C>A
- NM_001407751.1:c.4245C>A
- NM_001407752.1:c.4245C>A
- NM_001407838.1:c.4242C>A
- NM_001407839.1:c.4242C>A
- NM_001407841.1:c.4242C>A
- NM_001407842.1:c.4242C>A
- NM_001407843.1:c.4242C>A
- NM_001407844.1:c.4242C>A
- NM_001407845.1:c.4242C>A
- NM_001407846.1:c.4242C>A
- NM_001407847.1:c.4242C>A
- NM_001407848.1:c.4242C>A
- NM_001407849.1:c.4242C>A
- NM_001407850.1:c.4242C>A
- NM_001407851.1:c.4242C>A
- NM_001407852.1:c.4242C>A
- NM_001407853.1:c.4242C>A
- NM_001407854.1:c.4389C>A
- NM_001407858.1:c.4386C>A
- NM_001407859.1:c.4386C>A
- NM_001407860.1:c.4386C>A
- NM_001407861.1:c.4383C>A
- NM_001407862.1:c.4188C>A
- NM_001407863.1:c.4263C>A
- NM_001407874.1:c.4182C>A
- NM_001407875.1:c.4182C>A
- NM_001407879.1:c.4179C>A
- NM_001407881.1:c.4179C>A
- NM_001407882.1:c.4179C>A
- NM_001407884.1:c.4179C>A
- NM_001407885.1:c.4179C>A
- NM_001407886.1:c.4179C>A
- NM_001407887.1:c.4179C>A
- NM_001407889.1:c.4179C>A
- NM_001407894.1:c.4176C>A
- NM_001407895.1:c.4176C>A
- NM_001407896.1:c.4176C>A
- NM_001407897.1:c.4176C>A
- NM_001407898.1:c.4176C>A
- NM_001407899.1:c.4176C>A
- NM_001407900.1:c.4176C>A
- NM_001407902.1:c.4176C>A
- NM_001407904.1:c.4176C>A
- NM_001407906.1:c.4176C>A
- NM_001407907.1:c.4176C>A
- NM_001407908.1:c.4176C>A
- NM_001407909.1:c.4176C>A
- NM_001407910.1:c.4176C>A
- NM_001407915.1:c.4173C>A
- NM_001407916.1:c.4173C>A
- NM_001407917.1:c.4173C>A
- NM_001407918.1:c.4173C>A
- NM_001407919.1:c.4266C>A
- NM_001407920.1:c.4125C>A
- NM_001407921.1:c.4125C>A
- NM_001407922.1:c.4125C>A
- NM_001407923.1:c.4125C>A
- NM_001407924.1:c.4125C>A
- NM_001407925.1:c.4125C>A
- NM_001407926.1:c.4125C>A
- NM_001407927.1:c.4122C>A
- NM_001407928.1:c.4122C>A
- NM_001407929.1:c.4122C>A
- NM_001407930.1:c.4122C>A
- NM_001407931.1:c.4122C>A
- NM_001407932.1:c.4122C>A
- NM_001407933.1:c.4122C>A
- NM_001407934.1:c.4119C>A
- NM_001407935.1:c.4119C>A
- NM_001407936.1:c.4119C>A
- NM_001407937.1:c.4266C>A
- NM_001407938.1:c.4266C>A
- NM_001407939.1:c.4263C>A
- NM_001407940.1:c.4263C>A
- NM_001407941.1:c.4260C>A
- NM_001407942.1:c.4248C>A
- NM_001407943.1:c.4245C>A
- NM_001407944.1:c.4245C>A
- NM_001407945.1:c.4245C>A
- NM_001407946.1:c.4056C>A
- NM_001407947.1:c.4056C>A
- NM_001407948.1:c.4056C>A
- NM_001407949.1:c.4056C>A
- NM_001407950.1:c.4053C>A
- NM_001407951.1:c.4053C>A
- NM_001407952.1:c.4053C>A
- NM_001407953.1:c.4053C>A
- NM_001407954.1:c.4053C>A
- NM_001407955.1:c.4053C>A
- NM_001407956.1:c.4050C>A
- NM_001407957.1:c.4050C>A
- NM_001407958.1:c.4050C>A
- NM_001407959.1:c.4008C>A
- NM_001407960.1:c.4005C>A
- NM_001407962.1:c.4005C>A
- NM_001407963.1:c.4002C>A
- NM_001407965.1:c.3882C>A
- NM_001407966.1:c.3501C>A
- NM_001407967.1:c.3498C>A
- NM_001407968.1:c.1785C>A
- NM_001407969.1:c.1782C>A
- NM_001407970.1:c.1146C>A
- NM_001407971.1:c.1146C>A
- NM_001407972.1:c.1143C>A
- NM_001407973.1:c.1080C>A
- NM_001407974.1:c.1080C>A
- NM_001407975.1:c.1080C>A
- NM_001407976.1:c.1080C>A
- NM_001407977.1:c.1080C>A
- NM_001407978.1:c.1080C>A
- NM_001407979.1:c.1077C>A
- NM_001407980.1:c.1077C>A
- NM_001407981.1:c.1077C>A
- NM_001407982.1:c.1077C>A
- NM_001407983.1:c.1077C>A
- NM_001407984.1:c.1077C>A
- NM_001407985.1:c.1077C>A
- NM_001407986.1:c.1077C>A
- NM_001407990.1:c.1077C>A
- NM_001407991.1:c.1077C>A
- NM_001407992.1:c.1077C>A
- NM_001407993.1:c.1077C>A
- NM_001408392.1:c.1074C>A
- NM_001408396.1:c.1074C>A
- NM_001408397.1:c.1074C>A
- NM_001408398.1:c.1074C>A
- NM_001408399.1:c.1074C>A
- NM_001408400.1:c.1074C>A
- NM_001408401.1:c.1074C>A
- NM_001408402.1:c.1074C>A
- NM_001408403.1:c.1074C>A
- NM_001408404.1:c.1074C>A
- NM_001408406.1:c.1071C>A
- NM_001408407.1:c.1071C>A
- NM_001408408.1:c.1071C>A
- NM_001408409.1:c.1068C>A
- NM_001408410.1:c.1005C>A
- NM_001408411.1:c.1002C>A
- NM_001408412.1:c.999C>A
- NM_001408413.1:c.999C>A
- NM_001408414.1:c.999C>A
- NM_001408415.1:c.999C>A
- NM_001408416.1:c.999C>A
- NM_001408418.1:c.963C>A
- NM_001408419.1:c.963C>A
- NM_001408420.1:c.963C>A
- NM_001408421.1:c.960C>A
- NM_001408422.1:c.960C>A
- NM_001408423.1:c.960C>A
- NM_001408424.1:c.960C>A
- NM_001408425.1:c.957C>A
- NM_001408426.1:c.957C>A
- NM_001408427.1:c.957C>A
- NM_001408428.1:c.957C>A
- NM_001408429.1:c.957C>A
- NM_001408430.1:c.957C>A
- NM_001408431.1:c.957C>A
- NM_001408432.1:c.954C>A
- NM_001408433.1:c.954C>A
- NM_001408434.1:c.954C>A
- NM_001408435.1:c.954C>A
- NM_001408436.1:c.954C>A
- NM_001408437.1:c.954C>A
- NM_001408438.1:c.954C>A
- NM_001408439.1:c.954C>A
- NM_001408440.1:c.954C>A
- NM_001408441.1:c.954C>A
- NM_001408442.1:c.954C>A
- NM_001408443.1:c.954C>A
- NM_001408444.1:c.954C>A
- NM_001408445.1:c.951C>A
- NM_001408446.1:c.951C>A
- NM_001408447.1:c.951C>A
- NM_001408448.1:c.951C>A
- NM_001408450.1:c.951C>A
- NM_001408451.1:c.945C>A
- NM_001408452.1:c.939C>A
- NM_001408453.1:c.939C>A
- NM_001408454.1:c.939C>A
- NM_001408455.1:c.939C>A
- NM_001408456.1:c.939C>A
- NM_001408457.1:c.939C>A
- NM_001408458.1:c.936C>A
- NM_001408459.1:c.936C>A
- NM_001408460.1:c.936C>A
- NM_001408461.1:c.936C>A
- NM_001408462.1:c.936C>A
- NM_001408463.1:c.936C>A
- NM_001408464.1:c.936C>A
- NM_001408465.1:c.936C>A
- NM_001408466.1:c.936C>A
- NM_001408467.1:c.936C>A
- NM_001408468.1:c.933C>A
- NM_001408469.1:c.933C>A
- NM_001408470.1:c.933C>A
- NM_001408472.1:c.1077C>A
- NM_001408473.1:c.1074C>A
- NM_001408474.1:c.879C>A
- NM_001408475.1:c.876C>A
- NM_001408476.1:c.876C>A
- NM_001408478.1:c.870C>A
- NM_001408479.1:c.870C>A
- NM_001408480.1:c.870C>A
- NM_001408481.1:c.867C>A
- NM_001408482.1:c.867C>A
- NM_001408483.1:c.867C>A
- NM_001408484.1:c.867C>A
- NM_001408485.1:c.867C>A
- NM_001408489.1:c.867C>A
- NM_001408490.1:c.867C>A
- NM_001408491.1:c.867C>A
- NM_001408492.1:c.864C>A
- NM_001408493.1:c.864C>A
- NM_001408494.1:c.840C>A
- NM_001408495.1:c.834C>A
- NM_001408496.1:c.816C>A
- NM_001408497.1:c.816C>A
- NM_001408498.1:c.816C>A
- NM_001408499.1:c.816C>A
- NM_001408500.1:c.816C>A
- NM_001408501.1:c.816C>A
- NM_001408502.1:c.813C>A
- NM_001408503.1:c.813C>A
- NM_001408504.1:c.813C>A
- NM_001408505.1:c.810C>A
- NM_001408506.1:c.753C>A
- NM_001408507.1:c.750C>A
- NM_001408508.1:c.741C>A
- NM_001408509.1:c.738C>A
- NM_001408510.1:c.699C>A
- NM_001408511.1:c.696C>A
- NM_001408512.1:c.576C>A
- NM_007294.4:c.4389C>AMANE SELECT
- NM_007297.4:c.4248C>A
- NM_007298.4:c.1077C>A
- NM_007299.4:c.1077C>A
- NM_007300.4:c.4452C>A
- NM_007304.2:c.1077C>A
- NP_001394500.1:p.Tyr1392Ter
- NP_001394510.1:p.Tyr1485Ter
- NP_001394511.1:p.Tyr1485Ter
- NP_001394512.1:p.Tyr1484Ter
- NP_001394514.1:p.Tyr1484Ter
- NP_001394516.1:p.Tyr1484Ter
- NP_001394519.1:p.Tyr1483Ter
- NP_001394520.1:p.Tyr1483Ter
- NP_001394522.1:p.Tyr1463Ter
- NP_001394523.1:p.Tyr1463Ter
- NP_001394525.1:p.Tyr1463Ter
- NP_001394526.1:p.Tyr1463Ter
- NP_001394527.1:p.Tyr1463Ter
- NP_001394531.1:p.Tyr1463Ter
- NP_001394532.1:p.Tyr1463Ter
- NP_001394534.1:p.Tyr1463Ter
- NP_001394539.1:p.Tyr1462Ter
- NP_001394540.1:p.Tyr1462Ter
- NP_001394541.1:p.Tyr1462Ter
- NP_001394542.1:p.Tyr1462Ter
- NP_001394543.1:p.Tyr1462Ter
- NP_001394544.1:p.Tyr1462Ter
- NP_001394545.1:p.Tyr1462Ter
- NP_001394546.1:p.Tyr1462Ter
- NP_001394547.1:p.Tyr1462Ter
- NP_001394548.1:p.Tyr1462Ter
- NP_001394549.1:p.Tyr1462Ter
- NP_001394550.1:p.Tyr1462Ter
- NP_001394551.1:p.Tyr1462Ter
- NP_001394552.1:p.Tyr1462Ter
- NP_001394553.1:p.Tyr1462Ter
- NP_001394554.1:p.Tyr1462Ter
- NP_001394555.1:p.Tyr1462Ter
- NP_001394556.1:p.Tyr1461Ter
- NP_001394557.1:p.Tyr1461Ter
- NP_001394558.1:p.Tyr1461Ter
- NP_001394559.1:p.Tyr1461Ter
- NP_001394560.1:p.Tyr1461Ter
- NP_001394561.1:p.Tyr1461Ter
- NP_001394562.1:p.Tyr1461Ter
- NP_001394563.1:p.Tyr1461Ter
- NP_001394564.1:p.Tyr1461Ter
- NP_001394565.1:p.Tyr1461Ter
- NP_001394566.1:p.Tyr1461Ter
- NP_001394567.1:p.Tyr1461Ter
- NP_001394568.1:p.Tyr1461Ter
- NP_001394569.1:p.Tyr1461Ter
- NP_001394570.1:p.Tyr1461Ter
- NP_001394571.1:p.Tyr1461Ter
- NP_001394573.1:p.Tyr1460Ter
- NP_001394574.1:p.Tyr1460Ter
- NP_001394575.1:p.Tyr1459Ter
- NP_001394576.1:p.Tyr1458Ter
- NP_001394577.1:p.Tyr1444Ter
- NP_001394578.1:p.Tyr1443Ter
- NP_001394581.1:p.Tyr1463Ter
- NP_001394582.1:p.Tyr1437Ter
- NP_001394583.1:p.Tyr1437Ter
- NP_001394584.1:p.Tyr1437Ter
- NP_001394585.1:p.Tyr1436Ter
- NP_001394586.1:p.Tyr1436Ter
- NP_001394587.1:p.Tyr1436Ter
- NP_001394588.1:p.Tyr1435Ter
- NP_001394589.1:p.Tyr1435Ter
- NP_001394590.1:p.Tyr1435Ter
- NP_001394591.1:p.Tyr1435Ter
- NP_001394592.1:p.Tyr1435Ter
- NP_001394593.1:p.Tyr1422Ter
- NP_001394594.1:p.Tyr1422Ter
- NP_001394595.1:p.Tyr1422Ter
- NP_001394596.1:p.Tyr1422Ter
- NP_001394597.1:p.Tyr1422Ter
- NP_001394598.1:p.Tyr1422Ter
- NP_001394599.1:p.Tyr1421Ter
- NP_001394600.1:p.Tyr1421Ter
- NP_001394601.1:p.Tyr1421Ter
- NP_001394602.1:p.Tyr1421Ter
- NP_001394603.1:p.Tyr1421Ter
- NP_001394604.1:p.Tyr1421Ter
- NP_001394605.1:p.Tyr1421Ter
- NP_001394606.1:p.Tyr1421Ter
- NP_001394607.1:p.Tyr1421Ter
- NP_001394608.1:p.Tyr1421Ter
- NP_001394609.1:p.Tyr1421Ter
- NP_001394610.1:p.Tyr1420Ter
- NP_001394611.1:p.Tyr1420Ter
- NP_001394612.1:p.Tyr1420Ter
- NP_001394613.1:p.Tyr1463Ter
- NP_001394614.1:p.Tyr1420Ter
- NP_001394615.1:p.Tyr1420Ter
- NP_001394616.1:p.Tyr1420Ter
- NP_001394617.1:p.Tyr1420Ter
- NP_001394618.1:p.Tyr1420Ter
- NP_001394619.1:p.Tyr1419Ter
- NP_001394620.1:p.Tyr1419Ter
- NP_001394621.1:p.Tyr1416Ter
- NP_001394623.1:p.Tyr1416Ter
- NP_001394624.1:p.Tyr1416Ter
- NP_001394625.1:p.Tyr1416Ter
- NP_001394626.1:p.Tyr1416Ter
- NP_001394627.1:p.Tyr1416Ter
- NP_001394653.1:p.Tyr1416Ter
- NP_001394654.1:p.Tyr1416Ter
- NP_001394655.1:p.Tyr1416Ter
- NP_001394656.1:p.Tyr1416Ter
- NP_001394657.1:p.Tyr1416Ter
- NP_001394658.1:p.Tyr1416Ter
- NP_001394659.1:p.Tyr1416Ter
- NP_001394660.1:p.Tyr1416Ter
- NP_001394661.1:p.Tyr1415Ter
- NP_001394662.1:p.Tyr1415Ter
- NP_001394663.1:p.Tyr1415Ter
- NP_001394664.1:p.Tyr1415Ter
- NP_001394665.1:p.Tyr1415Ter
- NP_001394666.1:p.Tyr1415Ter
- NP_001394667.1:p.Tyr1415Ter
- NP_001394668.1:p.Tyr1415Ter
- NP_001394669.1:p.Tyr1415Ter
- NP_001394670.1:p.Tyr1415Ter
- NP_001394671.1:p.Tyr1415Ter
- NP_001394672.1:p.Tyr1415Ter
- NP_001394673.1:p.Tyr1415Ter
- NP_001394674.1:p.Tyr1415Ter
- NP_001394675.1:p.Tyr1415Ter
- NP_001394676.1:p.Tyr1415Ter
- NP_001394677.1:p.Tyr1415Ter
- NP_001394678.1:p.Tyr1415Ter
- NP_001394679.1:p.Tyr1415Ter
- NP_001394680.1:p.Tyr1415Ter
- NP_001394681.1:p.Tyr1415Ter
- NP_001394767.1:p.Tyr1414Ter
- NP_001394768.1:p.Tyr1414Ter
- NP_001394770.1:p.Tyr1414Ter
- NP_001394771.1:p.Tyr1414Ter
- NP_001394772.1:p.Tyr1414Ter
- NP_001394773.1:p.Tyr1414Ter
- NP_001394774.1:p.Tyr1414Ter
- NP_001394775.1:p.Tyr1414Ter
- NP_001394776.1:p.Tyr1414Ter
- NP_001394777.1:p.Tyr1414Ter
- NP_001394778.1:p.Tyr1414Ter
- NP_001394779.1:p.Tyr1414Ter
- NP_001394780.1:p.Tyr1414Ter
- NP_001394781.1:p.Tyr1414Ter
- NP_001394782.1:p.Tyr1414Ter
- NP_001394783.1:p.Tyr1463Ter
- NP_001394787.1:p.Tyr1462Ter
- NP_001394788.1:p.Tyr1462Ter
- NP_001394789.1:p.Tyr1462Ter
- NP_001394790.1:p.Tyr1461Ter
- NP_001394791.1:p.Tyr1396Ter
- NP_001394792.1:p.Tyr1421Ter
- NP_001394803.1:p.Tyr1394Ter
- NP_001394804.1:p.Tyr1394Ter
- NP_001394808.1:p.Tyr1393Ter
- NP_001394810.1:p.Tyr1393Ter
- NP_001394811.1:p.Tyr1393Ter
- NP_001394813.1:p.Tyr1393Ter
- NP_001394814.1:p.Tyr1393Ter
- NP_001394815.1:p.Tyr1393Ter
- NP_001394816.1:p.Tyr1393Ter
- NP_001394818.1:p.Tyr1393Ter
- NP_001394823.1:p.Tyr1392Ter
- NP_001394824.1:p.Tyr1392Ter
- NP_001394825.1:p.Tyr1392Ter
- NP_001394826.1:p.Tyr1392Ter
- NP_001394827.1:p.Tyr1392Ter
- NP_001394828.1:p.Tyr1392Ter
- NP_001394829.1:p.Tyr1392Ter
- NP_001394831.1:p.Tyr1392Ter
- NP_001394833.1:p.Tyr1392Ter
- NP_001394835.1:p.Tyr1392Ter
- NP_001394836.1:p.Tyr1392Ter
- NP_001394837.1:p.Tyr1392Ter
- NP_001394838.1:p.Tyr1392Ter
- NP_001394839.1:p.Tyr1392Ter
- NP_001394844.1:p.Tyr1391Ter
- NP_001394845.1:p.Tyr1391Ter
- NP_001394846.1:p.Tyr1391Ter
- NP_001394847.1:p.Tyr1391Ter
- NP_001394848.1:p.Tyr1422Ter
- NP_001394849.1:p.Tyr1375Ter
- NP_001394850.1:p.Tyr1375Ter
- NP_001394851.1:p.Tyr1375Ter
- NP_001394852.1:p.Tyr1375Ter
- NP_001394853.1:p.Tyr1375Ter
- NP_001394854.1:p.Tyr1375Ter
- NP_001394855.1:p.Tyr1375Ter
- NP_001394856.1:p.Tyr1374Ter
- NP_001394857.1:p.Tyr1374Ter
- NP_001394858.1:p.Tyr1374Ter
- NP_001394859.1:p.Tyr1374Ter
- NP_001394860.1:p.Tyr1374Ter
- NP_001394861.1:p.Tyr1374Ter
- NP_001394862.1:p.Tyr1374Ter
- NP_001394863.1:p.Tyr1373Ter
- NP_001394864.1:p.Tyr1373Ter
- NP_001394865.1:p.Tyr1373Ter
- NP_001394866.1:p.Tyr1422Ter
- NP_001394867.1:p.Tyr1422Ter
- NP_001394868.1:p.Tyr1421Ter
- NP_001394869.1:p.Tyr1421Ter
- NP_001394870.1:p.Tyr1420Ter
- NP_001394871.1:p.Tyr1416Ter
- NP_001394872.1:p.Tyr1415Ter
- NP_001394873.1:p.Tyr1415Ter
- NP_001394874.1:p.Tyr1415Ter
- NP_001394875.1:p.Tyr1352Ter
- NP_001394876.1:p.Tyr1352Ter
- NP_001394877.1:p.Tyr1352Ter
- NP_001394878.1:p.Tyr1352Ter
- NP_001394879.1:p.Tyr1351Ter
- NP_001394880.1:p.Tyr1351Ter
- NP_001394881.1:p.Tyr1351Ter
- NP_001394882.1:p.Tyr1351Ter
- NP_001394883.1:p.Tyr1351Ter
- NP_001394884.1:p.Tyr1351Ter
- NP_001394885.1:p.Tyr1350Ter
- NP_001394886.1:p.Tyr1350Ter
- NP_001394887.1:p.Tyr1350Ter
- NP_001394888.1:p.Tyr1336Ter
- NP_001394889.1:p.Tyr1335Ter
- NP_001394891.1:p.Tyr1335Ter
- NP_001394892.1:p.Tyr1334Ter
- NP_001394894.1:p.Tyr1294Ter
- NP_001394895.1:p.Tyr1167Ter
- NP_001394896.1:p.Tyr1166Ter
- NP_001394897.1:p.Tyr595Ter
- NP_001394898.1:p.Tyr594Ter
- NP_001394899.1:p.Tyr382Ter
- NP_001394900.1:p.Tyr382Ter
- NP_001394901.1:p.Tyr381Ter
- NP_001394902.1:p.Tyr360Ter
- NP_001394903.1:p.Tyr360Ter
- NP_001394904.1:p.Tyr360Ter
- NP_001394905.1:p.Tyr360Ter
- NP_001394906.1:p.Tyr360Ter
- NP_001394907.1:p.Tyr360Ter
- NP_001394908.1:p.Tyr359Ter
- NP_001394909.1:p.Tyr359Ter
- NP_001394910.1:p.Tyr359Ter
- NP_001394911.1:p.Tyr359Ter
- NP_001394912.1:p.Tyr359Ter
- NP_001394913.1:p.Tyr359Ter
- NP_001394914.1:p.Tyr359Ter
- NP_001394915.1:p.Tyr359Ter
- NP_001394919.1:p.Tyr359Ter
- NP_001394920.1:p.Tyr359Ter
- NP_001394921.1:p.Tyr359Ter
- NP_001394922.1:p.Tyr359Ter
- NP_001395321.1:p.Tyr358Ter
- NP_001395325.1:p.Tyr358Ter
- NP_001395326.1:p.Tyr358Ter
- NP_001395327.1:p.Tyr358Ter
- NP_001395328.1:p.Tyr358Ter
- NP_001395329.1:p.Tyr358Ter
- NP_001395330.1:p.Tyr358Ter
- NP_001395331.1:p.Tyr358Ter
- NP_001395332.1:p.Tyr358Ter
- NP_001395333.1:p.Tyr358Ter
- NP_001395335.1:p.Tyr357Ter
- NP_001395336.1:p.Tyr357Ter
- NP_001395337.1:p.Tyr357Ter
- NP_001395338.1:p.Tyr356Ter
- NP_001395339.1:p.Tyr335Ter
- NP_001395340.1:p.Tyr334Ter
- NP_001395341.1:p.Tyr333Ter
- NP_001395342.1:p.Tyr333Ter
- NP_001395343.1:p.Tyr333Ter
- NP_001395344.1:p.Tyr333Ter
- NP_001395345.1:p.Tyr333Ter
- NP_001395347.1:p.Tyr321Ter
- NP_001395348.1:p.Tyr321Ter
- NP_001395349.1:p.Tyr321Ter
- NP_001395350.1:p.Tyr320Ter
- NP_001395351.1:p.Tyr320Ter
- NP_001395352.1:p.Tyr320Ter
- NP_001395353.1:p.Tyr320Ter
- NP_001395354.1:p.Tyr319Ter
- NP_001395355.1:p.Tyr319Ter
- NP_001395356.1:p.Tyr319Ter
- NP_001395357.1:p.Tyr319Ter
- NP_001395358.1:p.Tyr319Ter
- NP_001395359.1:p.Tyr319Ter
- NP_001395360.1:p.Tyr319Ter
- NP_001395361.1:p.Tyr318Ter
- NP_001395362.1:p.Tyr318Ter
- NP_001395363.1:p.Tyr318Ter
- NP_001395364.1:p.Tyr318Ter
- NP_001395365.1:p.Tyr318Ter
- NP_001395366.1:p.Tyr318Ter
- NP_001395367.1:p.Tyr318Ter
- NP_001395368.1:p.Tyr318Ter
- NP_001395369.1:p.Tyr318Ter
- NP_001395370.1:p.Tyr318Ter
- NP_001395371.1:p.Tyr318Ter
- NP_001395372.1:p.Tyr318Ter
- NP_001395373.1:p.Tyr318Ter
- NP_001395374.1:p.Tyr317Ter
- NP_001395375.1:p.Tyr317Ter
- NP_001395376.1:p.Tyr317Ter
- NP_001395377.1:p.Tyr317Ter
- NP_001395379.1:p.Tyr317Ter
- NP_001395380.1:p.Tyr315Ter
- NP_001395381.1:p.Tyr313Ter
- NP_001395382.1:p.Tyr313Ter
- NP_001395383.1:p.Tyr313Ter
- NP_001395384.1:p.Tyr313Ter
- NP_001395385.1:p.Tyr313Ter
- NP_001395386.1:p.Tyr313Ter
- NP_001395387.1:p.Tyr312Ter
- NP_001395388.1:p.Tyr312Ter
- NP_001395389.1:p.Tyr312Ter
- NP_001395390.1:p.Tyr312Ter
- NP_001395391.1:p.Tyr312Ter
- NP_001395392.1:p.Tyr312Ter
- NP_001395393.1:p.Tyr312Ter
- NP_001395394.1:p.Tyr312Ter
- NP_001395395.1:p.Tyr312Ter
- NP_001395396.1:p.Tyr312Ter
- NP_001395397.1:p.Tyr311Ter
- NP_001395398.1:p.Tyr311Ter
- NP_001395399.1:p.Tyr311Ter
- NP_001395401.1:p.Tyr359Ter
- NP_001395402.1:p.Tyr358Ter
- NP_001395403.1:p.Tyr293Ter
- NP_001395404.1:p.Tyr292Ter
- NP_001395405.1:p.Tyr292Ter
- NP_001395407.1:p.Tyr290Ter
- NP_001395408.1:p.Tyr290Ter
- NP_001395409.1:p.Tyr290Ter
- NP_001395410.1:p.Tyr289Ter
- NP_001395411.1:p.Tyr289Ter
- NP_001395412.1:p.Tyr289Ter
- NP_001395413.1:p.Tyr289Ter
- NP_001395414.1:p.Tyr289Ter
- NP_001395418.1:p.Tyr289Ter
- NP_001395419.1:p.Tyr289Ter
- NP_001395420.1:p.Tyr289Ter
- NP_001395421.1:p.Tyr288Ter
- NP_001395422.1:p.Tyr288Ter
- NP_001395423.1:p.Tyr280Ter
- NP_001395424.1:p.Tyr278Ter
- NP_001395425.1:p.Tyr272Ter
- NP_001395426.1:p.Tyr272Ter
- NP_001395427.1:p.Tyr272Ter
- NP_001395428.1:p.Tyr272Ter
- NP_001395429.1:p.Tyr272Ter
- NP_001395430.1:p.Tyr272Ter
- NP_001395431.1:p.Tyr271Ter
- NP_001395432.1:p.Tyr271Ter
- NP_001395433.1:p.Tyr271Ter
- NP_001395434.1:p.Tyr270Ter
- NP_001395435.1:p.Tyr251Ter
- NP_001395436.1:p.Tyr250Ter
- NP_001395437.1:p.Tyr247Ter
- NP_001395438.1:p.Tyr246Ter
- NP_001395439.1:p.Tyr233Ter
- NP_001395440.1:p.Tyr232Ter
- NP_001395441.1:p.Tyr192Ter
- NP_009225.1:p.Tyr1463Ter
- NP_009225.1:p.Tyr1463Ter
- NP_009228.2:p.Tyr1416Ter
- NP_009229.2:p.Tyr359Ter
- NP_009229.2:p.Tyr359Ter
- NP_009230.2:p.Tyr359Ter
- NP_009231.2:p.Tyr1484Ter
- NP_009235.2:p.Tyr359Ter
- LRG_292t1:c.4389C>A
- LRG_292:g.141401C>A
- LRG_292p1:p.Tyr1463Ter
- NC_000017.10:g.41228600G>T
- NM_007294.3:c.4389C>A
- NM_007298.3:c.1077C>A
- NR_027676.2:n.4566C>A
- U14680.1:n.4508C>A
- p.Tyr1463*
- p.Y1463*
This HGVS expression did not pass validation- Nucleotide change:
- 4508C>A
- Protein change:
- Y1166*
- Links:
- dbSNP: rs80356997
- NCBI 1000 Genomes Browser:
- rs80356997
- Molecular consequence:
- NR_027676.2:n.4566C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NM_001407571.1:c.4176C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407581.1:c.4455C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407582.1:c.4455C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407583.1:c.4452C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407585.1:c.4452C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407587.1:c.4452C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407590.1:c.4449C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407591.1:c.4449C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407593.1:c.4389C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407594.1:c.4389C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407596.1:c.4389C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407597.1:c.4389C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407598.1:c.4389C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407602.1:c.4389C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407603.1:c.4389C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407605.1:c.4389C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407610.1:c.4386C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407611.1:c.4386C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407612.1:c.4386C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407613.1:c.4386C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407614.1:c.4386C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407615.1:c.4386C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407616.1:c.4386C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407617.1:c.4386C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407618.1:c.4386C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407619.1:c.4386C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407620.1:c.4386C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407621.1:c.4386C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407622.1:c.4386C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407623.1:c.4386C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407624.1:c.4386C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407625.1:c.4386C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407626.1:c.4386C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407627.1:c.4383C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407628.1:c.4383C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407629.1:c.4383C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407630.1:c.4383C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407631.1:c.4383C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407632.1:c.4383C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407633.1:c.4383C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407634.1:c.4383C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407635.1:c.4383C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407636.1:c.4383C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407637.1:c.4383C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407638.1:c.4383C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407639.1:c.4383C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407640.1:c.4383C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407641.1:c.4383C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407642.1:c.4383C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407644.1:c.4380C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407645.1:c.4380C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407646.1:c.4377C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407647.1:c.4374C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407648.1:c.4332C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407649.1:c.4329C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407652.1:c.4389C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407653.1:c.4311C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407654.1:c.4311C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407655.1:c.4311C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407656.1:c.4308C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407657.1:c.4308C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407658.1:c.4308C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407659.1:c.4305C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407660.1:c.4305C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407661.1:c.4305C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407662.1:c.4305C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407663.1:c.4305C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407664.1:c.4266C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407665.1:c.4266C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407666.1:c.4266C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407667.1:c.4266C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407668.1:c.4266C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407669.1:c.4266C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407670.1:c.4263C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407671.1:c.4263C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407672.1:c.4263C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407673.1:c.4263C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407674.1:c.4263C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407675.1:c.4263C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407676.1:c.4263C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407677.1:c.4263C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407678.1:c.4263C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407679.1:c.4263C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407680.1:c.4263C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407681.1:c.4260C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407682.1:c.4260C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407683.1:c.4260C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407684.1:c.4389C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407685.1:c.4260C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407686.1:c.4260C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407687.1:c.4260C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407688.1:c.4260C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407689.1:c.4260C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407690.1:c.4257C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407691.1:c.4257C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407692.1:c.4248C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407694.1:c.4248C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407695.1:c.4248C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407696.1:c.4248C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407697.1:c.4248C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407698.1:c.4248C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407724.1:c.4248C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407725.1:c.4248C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407726.1:c.4248C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407727.1:c.4248C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407728.1:c.4248C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407729.1:c.4248C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407730.1:c.4248C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407731.1:c.4248C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407732.1:c.4245C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407733.1:c.4245C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407734.1:c.4245C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407735.1:c.4245C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407736.1:c.4245C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407737.1:c.4245C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407738.1:c.4245C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407739.1:c.4245C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407740.1:c.4245C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407741.1:c.4245C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407742.1:c.4245C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407743.1:c.4245C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407744.1:c.4245C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407745.1:c.4245C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407746.1:c.4245C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407747.1:c.4245C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407748.1:c.4245C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407749.1:c.4245C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407750.1:c.4245C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407751.1:c.4245C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407752.1:c.4245C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407838.1:c.4242C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407839.1:c.4242C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407841.1:c.4242C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407842.1:c.4242C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407843.1:c.4242C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407844.1:c.4242C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407845.1:c.4242C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407846.1:c.4242C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407847.1:c.4242C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407848.1:c.4242C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407849.1:c.4242C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407850.1:c.4242C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407851.1:c.4242C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407852.1:c.4242C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407853.1:c.4242C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407854.1:c.4389C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407858.1:c.4386C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407859.1:c.4386C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407860.1:c.4386C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407861.1:c.4383C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407862.1:c.4188C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407863.1:c.4263C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407874.1:c.4182C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407875.1:c.4182C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407879.1:c.4179C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407881.1:c.4179C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407882.1:c.4179C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407884.1:c.4179C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407885.1:c.4179C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407886.1:c.4179C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407887.1:c.4179C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407889.1:c.4179C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407894.1:c.4176C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407895.1:c.4176C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407896.1:c.4176C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407897.1:c.4176C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407898.1:c.4176C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407899.1:c.4176C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407900.1:c.4176C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407902.1:c.4176C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407904.1:c.4176C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407906.1:c.4176C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407907.1:c.4176C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407908.1:c.4176C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407909.1:c.4176C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407910.1:c.4176C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407915.1:c.4173C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407916.1:c.4173C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407917.1:c.4173C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407918.1:c.4173C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407919.1:c.4266C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407920.1:c.4125C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407921.1:c.4125C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407922.1:c.4125C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407923.1:c.4125C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407924.1:c.4125C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407925.1:c.4125C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407926.1:c.4125C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407927.1:c.4122C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407928.1:c.4122C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407929.1:c.4122C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407930.1:c.4122C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407931.1:c.4122C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407932.1:c.4122C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407933.1:c.4122C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407934.1:c.4119C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407935.1:c.4119C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407936.1:c.4119C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407937.1:c.4266C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407938.1:c.4266C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407939.1:c.4263C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407940.1:c.4263C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407941.1:c.4260C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407942.1:c.4248C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407943.1:c.4245C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407944.1:c.4245C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407945.1:c.4245C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407946.1:c.4056C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407947.1:c.4056C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407948.1:c.4056C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407949.1:c.4056C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407950.1:c.4053C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407951.1:c.4053C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407952.1:c.4053C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407953.1:c.4053C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407954.1:c.4053C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407955.1:c.4053C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407956.1:c.4050C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407957.1:c.4050C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407958.1:c.4050C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407959.1:c.4008C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407960.1:c.4005C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407962.1:c.4005C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407963.1:c.4002C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407965.1:c.3882C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407966.1:c.3501C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407967.1:c.3498C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407968.1:c.1785C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407969.1:c.1782C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407970.1:c.1146C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407971.1:c.1146C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407972.1:c.1143C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407973.1:c.1080C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407974.1:c.1080C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407975.1:c.1080C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407976.1:c.1080C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407977.1:c.1080C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407978.1:c.1080C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407979.1:c.1077C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407980.1:c.1077C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407981.1:c.1077C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407982.1:c.1077C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407983.1:c.1077C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407984.1:c.1077C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407985.1:c.1077C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407986.1:c.1077C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407990.1:c.1077C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407991.1:c.1077C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407992.1:c.1077C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407993.1:c.1077C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408392.1:c.1074C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408396.1:c.1074C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408397.1:c.1074C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408398.1:c.1074C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408399.1:c.1074C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408400.1:c.1074C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408401.1:c.1074C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408402.1:c.1074C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408403.1:c.1074C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408404.1:c.1074C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408406.1:c.1071C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408407.1:c.1071C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408408.1:c.1071C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408409.1:c.1068C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408410.1:c.1005C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408411.1:c.1002C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408412.1:c.999C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408413.1:c.999C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408414.1:c.999C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408415.1:c.999C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408416.1:c.999C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408418.1:c.963C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408419.1:c.963C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408420.1:c.963C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408421.1:c.960C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408422.1:c.960C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408423.1:c.960C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408424.1:c.960C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408425.1:c.957C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408426.1:c.957C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408427.1:c.957C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408428.1:c.957C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408429.1:c.957C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408430.1:c.957C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408431.1:c.957C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408432.1:c.954C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408433.1:c.954C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408434.1:c.954C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408435.1:c.954C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408436.1:c.954C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408437.1:c.954C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408438.1:c.954C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408439.1:c.954C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408440.1:c.954C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408441.1:c.954C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408442.1:c.954C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408443.1:c.954C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408444.1:c.954C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408445.1:c.951C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408446.1:c.951C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408447.1:c.951C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408448.1:c.951C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408450.1:c.951C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408451.1:c.945C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408452.1:c.939C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408453.1:c.939C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408454.1:c.939C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408455.1:c.939C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408456.1:c.939C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408457.1:c.939C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408458.1:c.936C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408459.1:c.936C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408460.1:c.936C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408461.1:c.936C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408462.1:c.936C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408463.1:c.936C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408464.1:c.936C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408465.1:c.936C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408466.1:c.936C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408467.1:c.936C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408468.1:c.933C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408469.1:c.933C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408470.1:c.933C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408472.1:c.1077C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408473.1:c.1074C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408474.1:c.879C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408475.1:c.876C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408476.1:c.876C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408478.1:c.870C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408479.1:c.870C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408480.1:c.870C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408481.1:c.867C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408482.1:c.867C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408483.1:c.867C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408484.1:c.867C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408485.1:c.867C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408489.1:c.867C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408490.1:c.867C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408491.1:c.867C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408492.1:c.864C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408493.1:c.864C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408494.1:c.840C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408495.1:c.834C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408496.1:c.816C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408497.1:c.816C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408498.1:c.816C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408499.1:c.816C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408500.1:c.816C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408501.1:c.816C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408502.1:c.813C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408503.1:c.813C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408504.1:c.813C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408505.1:c.810C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408506.1:c.753C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408507.1:c.750C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408508.1:c.741C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408509.1:c.738C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408510.1:c.699C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408511.1:c.696C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408512.1:c.576C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_007294.4:c.4389C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_007297.4:c.4248C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_007298.4:c.1077C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_007299.4:c.1077C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_007300.4:c.4452C>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_007304.2:c.1077C>A - nonsense - [Sequence Ontology: SO:0001587]
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000293203 | GeneDx | criteria provided, single submitter (GeneDx Variant Classification (06012015)) | Pathogenic (Nov 7, 2017) | germline | clinical testing | |
SCV000296477 | Quest Diagnostics Nichols Institute San Juan Capistrano | criteria provided, single submitter (Quest Diagnostics criteria) | Pathogenic (May 27, 2016) | unknown | clinical testing | |
SCV002009442 | Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden | criteria provided, single submitter (ACMG Guidelines, 2015) | Pathogenic (Nov 3, 2021) | germline | clinical testing | |
SCV004242811 | Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital | criteria provided, single submitter (ACMG Guidelines, 2015) | Pathogenic (Feb 6, 2024) | germline | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | not provided | not provided | not provided | not provided | not provided | not provided | clinical testing |
not provided | unknown | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing |
not provided | germline | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing |
not provided | germline | yes | not provided | not provided | not provided | not provided | not provided | clinical testing |
Citations
PubMed
Lang GT, Shi JX, Hu X, Zhang CH, Shan L, Song CG, Zhuang ZG, Cao AY, Ling H, Yu KD, Li S, Sun MH, Zhou XY, Huang W, Shao ZM.
Int J Cancer. 2017 Jul 1;141(1):129-142. doi: 10.1002/ijc.30692. Epub 2017 Apr 25.
- PMID:
- 28294317
Jønson L, Ahlborn LB, Steffensen AY, Djursby M, Ejlertsen B, Timshel S, Nielsen FC, Gerdes AM, Hansen TV.
Breast Cancer Res Treat. 2016 Jan;155(2):215-22. doi: 10.1007/s10549-015-3674-y. Epub 2016 Jan 6.
- PMID:
- 26740214
Details of each submission
From GeneDx, SCV000293203.10
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
Description
This pathogenic variant is denoted BRCA1 c.4389C>A at the cDNA level and p.Tyr1463Ter (Y1463X) at the protein level. Using alternate nomenclature, this variant would be defined as BRCA1 4508C>A. The substitution creates a nonsense variant, which changes a Tyrosine to a premature stop codon (TAC>TAA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been published as a pathogenic variant (Eng 2001, Andrulis 2002), observed in an individual with a HER2+ breast tumor (Larsen 2013) and we consider it to be pathogenic.
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | yes | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000296477.3
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (8) |
Description
The BRCA1 c.4389C>A (p.Tyr1463*) variant causes the premature termination of BRCA1 protein synthesis. In the published literature, this variant has been reported in individuals with breast cancer (PMIDs: 28294317 (2017), 26740214 (2016), 21080930 (2010)), and shown to have deleterious effects on BRCA1 protein function (PMID: 25400221 (2014)). This variant has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Based on the available information, this variant is classified as pathogenic.
# | 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 |
From Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden, SCV002009442.3
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | not provided | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, SCV004242811.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
# | 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 13, 2024