NM_007294.4(BRCA1):c.5019del (p.His1673fs) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 4, 2019
- Review status:
- 1 star out of maximum of 4 starscriteria provided, single submitter
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV000985426.3
Allele description [Variation Report for NM_007294.4(BRCA1):c.5019del (p.His1673fs)]
NM_007294.4(BRCA1):c.5019del (p.His1673fs)
- Gene:
- BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
- Variant type:
- Deletion
- Cytogenetic location:
- 17q21.31
- Genomic location:
- Preferred name:
- NM_007294.4(BRCA1):c.5019del (p.His1673fs)
- Other names:
- 5138delC
- HGVS:
- NC_000017.11:g.43067663del
- NG_005905.2:g.150321del
- NM_001407571.1:c.4806delC
- NM_001407581.1:c.5085delC
- NM_001407582.1:c.5085delC
- NM_001407583.1:c.5082delC
- NM_001407585.1:c.5082delC
- NM_001407587.1:c.5082delC
- NM_001407590.1:c.5079delC
- NM_001407591.1:c.5079delC
- NM_001407593.1:c.5019delC
- NM_001407594.1:c.5019delC
- NM_001407596.1:c.5019delC
- NM_001407597.1:c.5019delC
- NM_001407598.1:c.5019delC
- NM_001407602.1:c.5019delC
- NM_001407603.1:c.5019delC
- NM_001407605.1:c.5019delC
- NM_001407610.1:c.5016delC
- NM_001407611.1:c.5016delC
- NM_001407612.1:c.5016delC
- NM_001407613.1:c.5016delC
- NM_001407614.1:c.5016delC
- NM_001407615.1:c.5016delC
- NM_001407616.1:c.5016delC
- NM_001407617.1:c.5016delC
- NM_001407618.1:c.5016delC
- NM_001407619.1:c.5016delC
- NM_001407620.1:c.5016delC
- NM_001407621.1:c.5016delC
- NM_001407622.1:c.5016delC
- NM_001407623.1:c.5016delC
- NM_001407624.1:c.5016delC
- NM_001407625.1:c.5016delC
- NM_001407626.1:c.5016delC
- NM_001407627.1:c.5013delC
- NM_001407628.1:c.5013delC
- NM_001407629.1:c.5013delC
- NM_001407630.1:c.5013delC
- NM_001407631.1:c.5013delC
- NM_001407632.1:c.5013delC
- NM_001407633.1:c.5013delC
- NM_001407634.1:c.5013delC
- NM_001407635.1:c.5013delC
- NM_001407636.1:c.5013delC
- NM_001407637.1:c.5013delC
- NM_001407638.1:c.5013delC
- NM_001407639.1:c.5013delC
- NM_001407640.1:c.5013delC
- NM_001407641.1:c.5013delC
- NM_001407642.1:c.5013delC
- NM_001407644.1:c.5010delC
- NM_001407645.1:c.5010delC
- NM_001407646.1:c.5007delC
- NM_001407647.1:c.5004delC
- NM_001407648.1:c.4962delC
- NM_001407649.1:c.4959delC
- NM_001407652.1:c.5019delC
- NM_001407653.1:c.4941delC
- NM_001407654.1:c.4941delC
- NM_001407655.1:c.4941delC
- NM_001407656.1:c.4938delC
- NM_001407657.1:c.4938delC
- NM_001407658.1:c.4938delC
- NM_001407659.1:c.4935delC
- NM_001407660.1:c.4935delC
- NM_001407661.1:c.4935delC
- NM_001407662.1:c.4935delC
- NM_001407663.1:c.4935delC
- NM_001407664.1:c.4896delC
- NM_001407665.1:c.4896delC
- NM_001407666.1:c.4896delC
- NM_001407667.1:c.4896delC
- NM_001407668.1:c.4896delC
- NM_001407669.1:c.4896delC
- NM_001407670.1:c.4893delC
- NM_001407671.1:c.4893delC
- NM_001407672.1:c.4893delC
- NM_001407673.1:c.4893delC
- NM_001407674.1:c.4893delC
- NM_001407675.1:c.4893delC
- NM_001407676.1:c.4893delC
- NM_001407677.1:c.4893delC
- NM_001407678.1:c.4893delC
- NM_001407679.1:c.4893delC
- NM_001407680.1:c.4893delC
- NM_001407681.1:c.4890delC
- NM_001407682.1:c.4890delC
- NM_001407683.1:c.4890delC
- NM_001407684.1:c.5019delC
- NM_001407685.1:c.4890delC
- NM_001407686.1:c.4890delC
- NM_001407687.1:c.4890delC
- NM_001407688.1:c.4890delC
- NM_001407689.1:c.4890delC
- NM_001407690.1:c.4887delC
- NM_001407691.1:c.4887delC
- NM_001407692.1:c.4878delC
- NM_001407694.1:c.4878delC
- NM_001407695.1:c.4878delC
- NM_001407696.1:c.4878delC
- NM_001407697.1:c.4878delC
- NM_001407698.1:c.4878delC
- NM_001407724.1:c.4878delC
- NM_001407725.1:c.4878delC
- NM_001407726.1:c.4878delC
- NM_001407727.1:c.4878delC
- NM_001407728.1:c.4878delC
- NM_001407729.1:c.4878delC
- NM_001407730.1:c.4878delC
- NM_001407731.1:c.4878delC
- NM_001407732.1:c.4875delC
- NM_001407733.1:c.4875delC
- NM_001407734.1:c.4875delC
- NM_001407735.1:c.4875delC
- NM_001407736.1:c.4875delC
- NM_001407737.1:c.4875delC
- NM_001407738.1:c.4875delC
- NM_001407739.1:c.4875delC
- NM_001407740.1:c.4875delC
- NM_001407741.1:c.4875delC
- NM_001407742.1:c.4875delC
- NM_001407743.1:c.4875delC
- NM_001407744.1:c.4875delC
- NM_001407745.1:c.4875delC
- NM_001407746.1:c.4875delC
- NM_001407747.1:c.4875delC
- NM_001407748.1:c.4875delC
- NM_001407749.1:c.4875delC
- NM_001407750.1:c.4875delC
- NM_001407751.1:c.4875delC
- NM_001407752.1:c.4875delC
- NM_001407838.1:c.4872delC
- NM_001407839.1:c.4872delC
- NM_001407841.1:c.4872delC
- NM_001407842.1:c.4872delC
- NM_001407843.1:c.4872delC
- NM_001407844.1:c.4872delC
- NM_001407845.1:c.4872delC
- NM_001407846.1:c.4872delC
- NM_001407847.1:c.4872delC
- NM_001407848.1:c.4872delC
- NM_001407849.1:c.4872delC
- NM_001407850.1:c.4872delC
- NM_001407851.1:c.4872delC
- NM_001407852.1:c.4872delC
- NM_001407853.1:c.4872delC
- NM_001407854.1:c.5019delC
- NM_001407858.1:c.5016delC
- NM_001407859.1:c.5016delC
- NM_001407860.1:c.5016delC
- NM_001407861.1:c.5013delC
- NM_001407862.1:c.4818delC
- NM_001407863.1:c.4893delC
- NM_001407874.1:c.4812delC
- NM_001407875.1:c.4812delC
- NM_001407879.1:c.4809delC
- NM_001407881.1:c.4809delC
- NM_001407882.1:c.4809delC
- NM_001407884.1:c.4809delC
- NM_001407885.1:c.4809delC
- NM_001407886.1:c.4809delC
- NM_001407887.1:c.4809delC
- NM_001407889.1:c.4809delC
- NM_001407894.1:c.4806delC
- NM_001407895.1:c.4806delC
- NM_001407896.1:c.4806delC
- NM_001407897.1:c.4806delC
- NM_001407898.1:c.4806delC
- NM_001407899.1:c.4806delC
- NM_001407900.1:c.4806delC
- NM_001407902.1:c.4806delC
- NM_001407904.1:c.4806delC
- NM_001407906.1:c.4806delC
- NM_001407907.1:c.4806delC
- NM_001407908.1:c.4806delC
- NM_001407909.1:c.4806delC
- NM_001407910.1:c.4806delC
- NM_001407915.1:c.4803delC
- NM_001407916.1:c.4803delC
- NM_001407917.1:c.4803delC
- NM_001407918.1:c.4803delC
- NM_001407919.1:c.4896delC
- NM_001407920.1:c.4755delC
- NM_001407921.1:c.4755delC
- NM_001407922.1:c.4755delC
- NM_001407923.1:c.4755delC
- NM_001407924.1:c.4755delC
- NM_001407925.1:c.4755delC
- NM_001407926.1:c.4755delC
- NM_001407927.1:c.4752delC
- NM_001407928.1:c.4752delC
- NM_001407929.1:c.4752delC
- NM_001407930.1:c.4752delC
- NM_001407931.1:c.4752delC
- NM_001407932.1:c.4752delC
- NM_001407933.1:c.4752delC
- NM_001407934.1:c.4749delC
- NM_001407935.1:c.4749delC
- NM_001407936.1:c.4749delC
- NM_001407937.1:c.4896delC
- NM_001407938.1:c.4896delC
- NM_001407939.1:c.4893delC
- NM_001407940.1:c.4893delC
- NM_001407941.1:c.4890delC
- NM_001407942.1:c.4878delC
- NM_001407943.1:c.4875delC
- NM_001407944.1:c.4875delC
- NM_001407945.1:c.4875delC
- NM_001407946.1:c.4686delC
- NM_001407947.1:c.4686delC
- NM_001407948.1:c.4686delC
- NM_001407949.1:c.4686delC
- NM_001407950.1:c.4683delC
- NM_001407951.1:c.4683delC
- NM_001407952.1:c.4683delC
- NM_001407953.1:c.4683delC
- NM_001407954.1:c.4683delC
- NM_001407955.1:c.4683delC
- NM_001407956.1:c.4680delC
- NM_001407957.1:c.4680delC
- NM_001407958.1:c.4680delC
- NM_001407959.1:c.4638delC
- NM_001407960.1:c.4635delC
- NM_001407962.1:c.4635delC
- NM_001407963.1:c.4632delC
- NM_001407964.1:c.4557delC
- NM_001407965.1:c.4512delC
- NM_001407966.1:c.4131delC
- NM_001407967.1:c.4128delC
- NM_001407968.1:c.2415delC
- NM_001407969.1:c.2412delC
- NM_001407970.1:c.1776delC
- NM_001407971.1:c.1776delC
- NM_001407972.1:c.1773delC
- NM_001407973.1:c.1710delC
- NM_001407974.1:c.1710delC
- NM_001407975.1:c.1710delC
- NM_001407976.1:c.1710delC
- NM_001407977.1:c.1710delC
- NM_001407978.1:c.1710delC
- NM_001407979.1:c.1707delC
- NM_001407980.1:c.1707delC
- NM_001407981.1:c.1707delC
- NM_001407982.1:c.1707delC
- NM_001407983.1:c.1707delC
- NM_001407984.1:c.1707delC
- NM_001407985.1:c.1707delC
- NM_001407986.1:c.1707delC
- NM_001407990.1:c.1707delC
- NM_001407991.1:c.1707delC
- NM_001407992.1:c.1707delC
- NM_001407993.1:c.1707delC
- NM_001408392.1:c.1704delC
- NM_001408396.1:c.1704delC
- NM_001408397.1:c.1704delC
- NM_001408398.1:c.1704delC
- NM_001408399.1:c.1704delC
- NM_001408400.1:c.1704delC
- NM_001408401.1:c.1704delC
- NM_001408402.1:c.1704delC
- NM_001408403.1:c.1704delC
- NM_001408404.1:c.1704delC
- NM_001408406.1:c.1701delC
- NM_001408407.1:c.1701delC
- NM_001408408.1:c.1701delC
- NM_001408409.1:c.1698delC
- NM_001408410.1:c.1635delC
- NM_001408411.1:c.1632delC
- NM_001408412.1:c.1629delC
- NM_001408413.1:c.1629delC
- NM_001408414.1:c.1629delC
- NM_001408415.1:c.1629delC
- NM_001408416.1:c.1629delC
- NM_001408418.1:c.1593delC
- NM_001408419.1:c.1593delC
- NM_001408420.1:c.1593delC
- NM_001408421.1:c.1590delC
- NM_001408422.1:c.1590delC
- NM_001408423.1:c.1590delC
- NM_001408424.1:c.1590delC
- NM_001408425.1:c.1587delC
- NM_001408426.1:c.1587delC
- NM_001408427.1:c.1587delC
- NM_001408428.1:c.1587delC
- NM_001408429.1:c.1587delC
- NM_001408430.1:c.1587delC
- NM_001408431.1:c.1587delC
- NM_001408432.1:c.1584delC
- NM_001408433.1:c.1584delC
- NM_001408434.1:c.1584delC
- NM_001408435.1:c.1584delC
- NM_001408436.1:c.1584delC
- NM_001408437.1:c.1584delC
- NM_001408438.1:c.1584delC
- NM_001408439.1:c.1584delC
- NM_001408440.1:c.1584delC
- NM_001408441.1:c.1584delC
- NM_001408442.1:c.1584delC
- NM_001408443.1:c.1584delC
- NM_001408444.1:c.1584delC
- NM_001408445.1:c.1581delC
- NM_001408446.1:c.1581delC
- NM_001408447.1:c.1581delC
- NM_001408448.1:c.1581delC
- NM_001408450.1:c.1581delC
- NM_001408451.1:c.1575delC
- NM_001408452.1:c.1569delC
- NM_001408453.1:c.1569delC
- NM_001408454.1:c.1569delC
- NM_001408455.1:c.1569delC
- NM_001408456.1:c.1569delC
- NM_001408457.1:c.1569delC
- NM_001408458.1:c.1566delC
- NM_001408459.1:c.1566delC
- NM_001408460.1:c.1566delC
- NM_001408461.1:c.1566delC
- NM_001408462.1:c.1566delC
- NM_001408463.1:c.1566delC
- NM_001408464.1:c.1566delC
- NM_001408465.1:c.1566delC
- NM_001408466.1:c.1566delC
- NM_001408467.1:c.1566delC
- NM_001408468.1:c.1563delC
- NM_001408469.1:c.1563delC
- NM_001408470.1:c.1563delC
- NM_001408472.1:c.1707delC
- NM_001408473.1:c.1704delC
- NM_001408474.1:c.1509delC
- NM_001408475.1:c.1506delC
- NM_001408476.1:c.1506delC
- NM_001408478.1:c.1500delC
- NM_001408479.1:c.1500delC
- NM_001408480.1:c.1500delC
- NM_001408481.1:c.1497delC
- NM_001408482.1:c.1497delC
- NM_001408483.1:c.1497delC
- NM_001408484.1:c.1497delC
- NM_001408485.1:c.1497delC
- NM_001408489.1:c.1497delC
- NM_001408490.1:c.1497delC
- NM_001408491.1:c.1497delC
- NM_001408492.1:c.1494delC
- NM_001408493.1:c.1494delC
- NM_001408494.1:c.1470delC
- NM_001408495.1:c.1464delC
- NM_001408496.1:c.1446delC
- NM_001408497.1:c.1446delC
- NM_001408498.1:c.1446delC
- NM_001408499.1:c.1446delC
- NM_001408500.1:c.1446delC
- NM_001408501.1:c.1446delC
- NM_001408502.1:c.1443delC
- NM_001408503.1:c.1443delC
- NM_001408504.1:c.1443delC
- NM_001408505.1:c.1440delC
- NM_001408506.1:c.1383delC
- NM_001408507.1:c.1380delC
- NM_001408508.1:c.1371delC
- NM_001408509.1:c.1368delC
- NM_001408510.1:c.1329delC
- NM_001408511.1:c.1326delC
- NM_001408512.1:c.1206delC
- NM_001408513.1:c.1179delC
- NM_007294.4:c.5019delMANE SELECT
- NM_007297.4:c.4878del
- NM_007298.4:c.1707delC
- NM_007299.4:c.1707del
- NM_007300.4:c.5082del
- NM_007304.2:c.1707delC
- NP_001394500.1:p.His1602Glnfs
- NP_001394510.1:p.His1695Glnfs
- NP_001394511.1:p.His1695Glnfs
- NP_001394512.1:p.His1694Glnfs
- NP_001394514.1:p.His1694Glnfs
- NP_001394516.1:p.His1694Glnfs
- NP_001394519.1:p.His1693Glnfs
- NP_001394520.1:p.His1693Glnfs
- NP_001394522.1:p.His1673Glnfs
- NP_001394523.1:p.His1673Glnfs
- NP_001394525.1:p.His1673Glnfs
- NP_001394526.1:p.His1673Glnfs
- NP_001394527.1:p.His1673Glnfs
- NP_001394531.1:p.His1673Glnfs
- NP_001394532.1:p.His1673Glnfs
- NP_001394534.1:p.His1673Glnfs
- NP_001394539.1:p.His1672Glnfs
- NP_001394540.1:p.His1672Glnfs
- NP_001394541.1:p.His1672Glnfs
- NP_001394542.1:p.His1672Glnfs
- NP_001394543.1:p.His1672Glnfs
- NP_001394544.1:p.His1672Glnfs
- NP_001394545.1:p.His1672Glnfs
- NP_001394546.1:p.His1672Glnfs
- NP_001394547.1:p.His1672Glnfs
- NP_001394548.1:p.His1672Glnfs
- NP_001394549.1:p.His1672Glnfs
- NP_001394550.1:p.His1672Glnfs
- NP_001394551.1:p.His1672Glnfs
- NP_001394552.1:p.His1672Glnfs
- NP_001394553.1:p.His1672Glnfs
- NP_001394554.1:p.His1672Glnfs
- NP_001394555.1:p.His1672Glnfs
- NP_001394556.1:p.His1671Glnfs
- NP_001394557.1:p.His1671Glnfs
- NP_001394558.1:p.His1671Glnfs
- NP_001394559.1:p.His1671Glnfs
- NP_001394560.1:p.His1671Glnfs
- NP_001394561.1:p.His1671Glnfs
- NP_001394562.1:p.His1671Glnfs
- NP_001394563.1:p.His1671Glnfs
- NP_001394564.1:p.His1671Glnfs
- NP_001394565.1:p.His1671Glnfs
- NP_001394566.1:p.His1671Glnfs
- NP_001394567.1:p.His1671Glnfs
- NP_001394568.1:p.His1671Glnfs
- NP_001394569.1:p.His1671Glnfs
- NP_001394570.1:p.His1671Glnfs
- NP_001394571.1:p.His1671Glnfs
- NP_001394573.1:p.His1670Glnfs
- NP_001394574.1:p.His1670Glnfs
- NP_001394575.1:p.His1669Glnfs
- NP_001394576.1:p.His1668Glnfs
- NP_001394577.1:p.His1654Glnfs
- NP_001394578.1:p.His1653Glnfs
- NP_001394581.1:p.His1673Glnfs
- NP_001394582.1:p.His1647Glnfs
- NP_001394583.1:p.His1647Glnfs
- NP_001394584.1:p.His1647Glnfs
- NP_001394585.1:p.His1646Glnfs
- NP_001394586.1:p.His1646Glnfs
- NP_001394587.1:p.His1646Glnfs
- NP_001394588.1:p.His1645Glnfs
- NP_001394589.1:p.His1645Glnfs
- NP_001394590.1:p.His1645Glnfs
- NP_001394591.1:p.His1645Glnfs
- NP_001394592.1:p.His1645Glnfs
- NP_001394593.1:p.His1632Glnfs
- NP_001394594.1:p.His1632Glnfs
- NP_001394595.1:p.His1632Glnfs
- NP_001394596.1:p.His1632Glnfs
- NP_001394597.1:p.His1632Glnfs
- NP_001394598.1:p.His1632Glnfs
- NP_001394599.1:p.His1631Glnfs
- NP_001394600.1:p.His1631Glnfs
- NP_001394601.1:p.His1631Glnfs
- NP_001394602.1:p.His1631Glnfs
- NP_001394603.1:p.His1631Glnfs
- NP_001394604.1:p.His1631Glnfs
- NP_001394605.1:p.His1631Glnfs
- NP_001394606.1:p.His1631Glnfs
- NP_001394607.1:p.His1631Glnfs
- NP_001394608.1:p.His1631Glnfs
- NP_001394609.1:p.His1631Glnfs
- NP_001394610.1:p.His1630Glnfs
- NP_001394611.1:p.His1630Glnfs
- NP_001394612.1:p.His1630Glnfs
- NP_001394613.1:p.His1673Glnfs
- NP_001394614.1:p.His1630Glnfs
- NP_001394615.1:p.His1630Glnfs
- NP_001394616.1:p.His1630Glnfs
- NP_001394617.1:p.His1630Glnfs
- NP_001394618.1:p.His1630Glnfs
- NP_001394619.1:p.His1629Glnfs
- NP_001394620.1:p.His1629Glnfs
- NP_001394621.1:p.His1626Glnfs
- NP_001394623.1:p.His1626Glnfs
- NP_001394624.1:p.His1626Glnfs
- NP_001394625.1:p.His1626Glnfs
- NP_001394626.1:p.His1626Glnfs
- NP_001394627.1:p.His1626Glnfs
- NP_001394653.1:p.His1626Glnfs
- NP_001394654.1:p.His1626Glnfs
- NP_001394655.1:p.His1626Glnfs
- NP_001394656.1:p.His1626Glnfs
- NP_001394657.1:p.His1626Glnfs
- NP_001394658.1:p.His1626Glnfs
- NP_001394659.1:p.His1626Glnfs
- NP_001394660.1:p.His1626Glnfs
- NP_001394661.1:p.His1625Glnfs
- NP_001394662.1:p.His1625Glnfs
- NP_001394663.1:p.His1625Glnfs
- NP_001394664.1:p.His1625Glnfs
- NP_001394665.1:p.His1625Glnfs
- NP_001394666.1:p.His1625Glnfs
- NP_001394667.1:p.His1625Glnfs
- NP_001394668.1:p.His1625Glnfs
- NP_001394669.1:p.His1625Glnfs
- NP_001394670.1:p.His1625Glnfs
- NP_001394671.1:p.His1625Glnfs
- NP_001394672.1:p.His1625Glnfs
- NP_001394673.1:p.His1625Glnfs
- NP_001394674.1:p.His1625Glnfs
- NP_001394675.1:p.His1625Glnfs
- NP_001394676.1:p.His1625Glnfs
- NP_001394677.1:p.His1625Glnfs
- NP_001394678.1:p.His1625Glnfs
- NP_001394679.1:p.His1625Glnfs
- NP_001394680.1:p.His1625Glnfs
- NP_001394681.1:p.His1625Glnfs
- NP_001394767.1:p.His1624Glnfs
- NP_001394768.1:p.His1624Glnfs
- NP_001394770.1:p.His1624Glnfs
- NP_001394771.1:p.His1624Glnfs
- NP_001394772.1:p.His1624Glnfs
- NP_001394773.1:p.His1624Glnfs
- NP_001394774.1:p.His1624Glnfs
- NP_001394775.1:p.His1624Glnfs
- NP_001394776.1:p.His1624Glnfs
- NP_001394777.1:p.His1624Glnfs
- NP_001394778.1:p.His1624Glnfs
- NP_001394779.1:p.His1624Glnfs
- NP_001394780.1:p.His1624Glnfs
- NP_001394781.1:p.His1624Glnfs
- NP_001394782.1:p.His1624Glnfs
- NP_001394783.1:p.His1673Glnfs
- NP_001394787.1:p.His1672Glnfs
- NP_001394788.1:p.His1672Glnfs
- NP_001394789.1:p.His1672Glnfs
- NP_001394790.1:p.His1671Glnfs
- NP_001394791.1:p.His1606Glnfs
- NP_001394792.1:p.His1631Glnfs
- NP_001394803.1:p.His1604Glnfs
- NP_001394804.1:p.His1604Glnfs
- NP_001394808.1:p.His1603Glnfs
- NP_001394810.1:p.His1603Glnfs
- NP_001394811.1:p.His1603Glnfs
- NP_001394813.1:p.His1603Glnfs
- NP_001394814.1:p.His1603Glnfs
- NP_001394815.1:p.His1603Glnfs
- NP_001394816.1:p.His1603Glnfs
- NP_001394818.1:p.His1603Glnfs
- NP_001394823.1:p.His1602Glnfs
- NP_001394824.1:p.His1602Glnfs
- NP_001394825.1:p.His1602Glnfs
- NP_001394826.1:p.His1602Glnfs
- NP_001394827.1:p.His1602Glnfs
- NP_001394828.1:p.His1602Glnfs
- NP_001394829.1:p.His1602Glnfs
- NP_001394831.1:p.His1602Glnfs
- NP_001394833.1:p.His1602Glnfs
- NP_001394835.1:p.His1602Glnfs
- NP_001394836.1:p.His1602Glnfs
- NP_001394837.1:p.His1602Glnfs
- NP_001394838.1:p.His1602Glnfs
- NP_001394839.1:p.His1602Glnfs
- NP_001394844.1:p.His1601Glnfs
- NP_001394845.1:p.His1601Glnfs
- NP_001394846.1:p.His1601Glnfs
- NP_001394847.1:p.His1601Glnfs
- NP_001394848.1:p.His1632Glnfs
- NP_001394849.1:p.His1585Glnfs
- NP_001394850.1:p.His1585Glnfs
- NP_001394851.1:p.His1585Glnfs
- NP_001394852.1:p.His1585Glnfs
- NP_001394853.1:p.His1585Glnfs
- NP_001394854.1:p.His1585Glnfs
- NP_001394855.1:p.His1585Glnfs
- NP_001394856.1:p.His1584Glnfs
- NP_001394857.1:p.His1584Glnfs
- NP_001394858.1:p.His1584Glnfs
- NP_001394859.1:p.His1584Glnfs
- NP_001394860.1:p.His1584Glnfs
- NP_001394861.1:p.His1584Glnfs
- NP_001394862.1:p.His1584Glnfs
- NP_001394863.1:p.His1583Glnfs
- NP_001394864.1:p.His1583Glnfs
- NP_001394865.1:p.His1583Glnfs
- NP_001394866.1:p.His1632Glnfs
- NP_001394867.1:p.His1632Glnfs
- NP_001394868.1:p.His1631Glnfs
- NP_001394869.1:p.His1631Glnfs
- NP_001394870.1:p.His1630Glnfs
- NP_001394871.1:p.His1626Glnfs
- NP_001394872.1:p.His1625Glnfs
- NP_001394873.1:p.His1625Glnfs
- NP_001394874.1:p.His1625Glnfs
- NP_001394875.1:p.His1562Glnfs
- NP_001394876.1:p.His1562Glnfs
- NP_001394877.1:p.His1562Glnfs
- NP_001394878.1:p.His1562Glnfs
- NP_001394879.1:p.His1561Glnfs
- NP_001394880.1:p.His1561Glnfs
- NP_001394881.1:p.His1561Glnfs
- NP_001394882.1:p.His1561Glnfs
- NP_001394883.1:p.His1561Glnfs
- NP_001394884.1:p.His1561Glnfs
- NP_001394885.1:p.His1560Glnfs
- NP_001394886.1:p.His1560Glnfs
- NP_001394887.1:p.His1560Glnfs
- NP_001394888.1:p.His1546Glnfs
- NP_001394889.1:p.His1545Glnfs
- NP_001394891.1:p.His1545Glnfs
- NP_001394892.1:p.His1544Glnfs
- NP_001394893.1:p.His1519Glnfs
- NP_001394894.1:p.His1504Glnfs
- NP_001394895.1:p.His1377Glnfs
- NP_001394896.1:p.His1376Glnfs
- NP_001394897.1:p.His805Glnfs
- NP_001394898.1:p.His804Glnfs
- NP_001394899.1:p.His592Glnfs
- NP_001394900.1:p.His592Glnfs
- NP_001394901.1:p.His591Glnfs
- NP_001394902.1:p.His570Glnfs
- NP_001394903.1:p.His570Glnfs
- NP_001394904.1:p.His570Glnfs
- NP_001394905.1:p.His570Glnfs
- NP_001394906.1:p.His570Glnfs
- NP_001394907.1:p.His570Glnfs
- NP_001394908.1:p.His569Glnfs
- NP_001394909.1:p.His569Glnfs
- NP_001394910.1:p.His569Glnfs
- NP_001394911.1:p.His569Glnfs
- NP_001394912.1:p.His569Glnfs
- NP_001394913.1:p.His569Glnfs
- NP_001394914.1:p.His569Glnfs
- NP_001394915.1:p.His569Glnfs
- NP_001394919.1:p.His569Glnfs
- NP_001394920.1:p.His569Glnfs
- NP_001394921.1:p.His569Glnfs
- NP_001394922.1:p.His569Glnfs
- NP_001395321.1:p.His568Glnfs
- NP_001395325.1:p.His568Glnfs
- NP_001395326.1:p.His568Glnfs
- NP_001395327.1:p.His568Glnfs
- NP_001395328.1:p.His568Glnfs
- NP_001395329.1:p.His568Glnfs
- NP_001395330.1:p.His568Glnfs
- NP_001395331.1:p.His568Glnfs
- NP_001395332.1:p.His568Glnfs
- NP_001395333.1:p.His568Glnfs
- NP_001395335.1:p.His567Glnfs
- NP_001395336.1:p.His567Glnfs
- NP_001395337.1:p.His567Glnfs
- NP_001395338.1:p.His566Glnfs
- NP_001395339.1:p.His545Glnfs
- NP_001395340.1:p.His544Glnfs
- NP_001395341.1:p.His543Glnfs
- NP_001395342.1:p.His543Glnfs
- NP_001395343.1:p.His543Glnfs
- NP_001395344.1:p.His543Glnfs
- NP_001395345.1:p.His543Glnfs
- NP_001395347.1:p.His531Glnfs
- NP_001395348.1:p.His531Glnfs
- NP_001395349.1:p.His531Glnfs
- NP_001395350.1:p.His530Glnfs
- NP_001395351.1:p.His530Glnfs
- NP_001395352.1:p.His530Glnfs
- NP_001395353.1:p.His530Glnfs
- NP_001395354.1:p.His529Glnfs
- NP_001395355.1:p.His529Glnfs
- NP_001395356.1:p.His529Glnfs
- NP_001395357.1:p.His529Glnfs
- NP_001395358.1:p.His529Glnfs
- NP_001395359.1:p.His529Glnfs
- NP_001395360.1:p.His529Glnfs
- NP_001395361.1:p.His528Glnfs
- NP_001395362.1:p.His528Glnfs
- NP_001395363.1:p.His528Glnfs
- NP_001395364.1:p.His528Glnfs
- NP_001395365.1:p.His528Glnfs
- NP_001395366.1:p.His528Glnfs
- NP_001395367.1:p.His528Glnfs
- NP_001395368.1:p.His528Glnfs
- NP_001395369.1:p.His528Glnfs
- NP_001395370.1:p.His528Glnfs
- NP_001395371.1:p.His528Glnfs
- NP_001395372.1:p.His528Glnfs
- NP_001395373.1:p.His528Glnfs
- NP_001395374.1:p.His527Glnfs
- NP_001395375.1:p.His527Glnfs
- NP_001395376.1:p.His527Glnfs
- NP_001395377.1:p.His527Glnfs
- NP_001395379.1:p.His527Glnfs
- NP_001395380.1:p.His525Glnfs
- NP_001395381.1:p.His523Glnfs
- NP_001395382.1:p.His523Glnfs
- NP_001395383.1:p.His523Glnfs
- NP_001395384.1:p.His523Glnfs
- NP_001395385.1:p.His523Glnfs
- NP_001395386.1:p.His523Glnfs
- NP_001395387.1:p.His522Glnfs
- NP_001395388.1:p.His522Glnfs
- NP_001395389.1:p.His522Glnfs
- NP_001395390.1:p.His522Glnfs
- NP_001395391.1:p.His522Glnfs
- NP_001395392.1:p.His522Glnfs
- NP_001395393.1:p.His522Glnfs
- NP_001395394.1:p.His522Glnfs
- NP_001395395.1:p.His522Glnfs
- NP_001395396.1:p.His522Glnfs
- NP_001395397.1:p.His521Glnfs
- NP_001395398.1:p.His521Glnfs
- NP_001395399.1:p.His521Glnfs
- NP_001395401.1:p.His569Glnfs
- NP_001395402.1:p.His568Glnfs
- NP_001395403.1:p.His503Glnfs
- NP_001395404.1:p.His502Glnfs
- NP_001395405.1:p.His502Glnfs
- NP_001395407.1:p.His500Glnfs
- NP_001395408.1:p.His500Glnfs
- NP_001395409.1:p.His500Glnfs
- NP_001395410.1:p.His499Glnfs
- NP_001395411.1:p.His499Glnfs
- NP_001395412.1:p.His499Glnfs
- NP_001395413.1:p.His499Glnfs
- NP_001395414.1:p.His499Glnfs
- NP_001395418.1:p.His499Glnfs
- NP_001395419.1:p.His499Glnfs
- NP_001395420.1:p.His499Glnfs
- NP_001395421.1:p.His498Glnfs
- NP_001395422.1:p.His498Glnfs
- NP_001395423.1:p.His490Glnfs
- NP_001395424.1:p.His488Glnfs
- NP_001395425.1:p.His482Glnfs
- NP_001395426.1:p.His482Glnfs
- NP_001395427.1:p.His482Glnfs
- NP_001395428.1:p.His482Glnfs
- NP_001395429.1:p.His482Glnfs
- NP_001395430.1:p.His482Glnfs
- NP_001395431.1:p.His481Glnfs
- NP_001395432.1:p.His481Glnfs
- NP_001395433.1:p.His481Glnfs
- NP_001395434.1:p.His480Glnfs
- NP_001395435.1:p.His461Glnfs
- NP_001395436.1:p.His460Glnfs
- NP_001395437.1:p.His457Glnfs
- NP_001395438.1:p.His456Glnfs
- NP_001395439.1:p.His443Glnfs
- NP_001395440.1:p.His442Glnfs
- NP_001395441.1:p.His402Glnfs
- NP_001395442.1:p.His393Glnfs
- NP_009225.1:p.His1673Glnfs
- NP_009225.1:p.His1673fs
- NP_009225.1:p.His1673fs
- NP_009228.2:p.His1626fs
- NP_009229.2:p.His569Glnfs
- NP_009229.2:p.His569fs
- NP_009230.2:p.His569fs
- NP_009231.2:p.His1694fs
- NP_009235.2:p.His569Glnfs
- LRG_292t1:c.5019del
- LRG_292:g.150321del
- LRG_292p1:p.His1673fs
- NC_000017.10:g.41219680del
- NM_007294.3:c.5019del
- NM_007294.3:c.5019delC
- NM_007298.3:c.1707del
- NR_027676.2:n.5196del
- p.His1673fs
This HGVS expression did not pass validation- Protein change:
- H1626fs
- Links:
- dbSNP: rs886040260
- NCBI 1000 Genomes Browser:
- rs886040260
- Molecular consequence:
- NM_001407571.1:c.4806delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407581.1:c.5085delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407582.1:c.5085delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407583.1:c.5082delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407585.1:c.5082delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407587.1:c.5082delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407590.1:c.5079delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407591.1:c.5079delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407593.1:c.5019delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407594.1:c.5019delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407596.1:c.5019delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407597.1:c.5019delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407598.1:c.5019delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407602.1:c.5019delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407603.1:c.5019delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407605.1:c.5019delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407610.1:c.5016delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407611.1:c.5016delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407612.1:c.5016delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407613.1:c.5016delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407614.1:c.5016delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407615.1:c.5016delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407616.1:c.5016delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407617.1:c.5016delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407618.1:c.5016delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407619.1:c.5016delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407620.1:c.5016delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407621.1:c.5016delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407622.1:c.5016delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407623.1:c.5016delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407624.1:c.5016delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407625.1:c.5016delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407626.1:c.5016delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407627.1:c.5013delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407628.1:c.5013delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407629.1:c.5013delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407630.1:c.5013delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407631.1:c.5013delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407632.1:c.5013delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407633.1:c.5013delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407634.1:c.5013delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407635.1:c.5013delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407636.1:c.5013delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407637.1:c.5013delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407638.1:c.5013delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407639.1:c.5013delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407640.1:c.5013delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407641.1:c.5013delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407642.1:c.5013delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407644.1:c.5010delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407645.1:c.5010delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407646.1:c.5007delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407647.1:c.5004delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407648.1:c.4962delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407649.1:c.4959delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407652.1:c.5019delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407653.1:c.4941delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407654.1:c.4941delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407655.1:c.4941delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407656.1:c.4938delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407657.1:c.4938delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407658.1:c.4938delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407659.1:c.4935delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407660.1:c.4935delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407661.1:c.4935delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407662.1:c.4935delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407663.1:c.4935delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407664.1:c.4896delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407665.1:c.4896delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407666.1:c.4896delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407667.1:c.4896delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407668.1:c.4896delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407669.1:c.4896delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407670.1:c.4893delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407671.1:c.4893delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407672.1:c.4893delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407673.1:c.4893delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407674.1:c.4893delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407675.1:c.4893delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407676.1:c.4893delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407677.1:c.4893delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407678.1:c.4893delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407679.1:c.4893delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407680.1:c.4893delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407681.1:c.4890delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407682.1:c.4890delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407683.1:c.4890delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407684.1:c.5019delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407685.1:c.4890delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407686.1:c.4890delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407687.1:c.4890delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407688.1:c.4890delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407689.1:c.4890delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407690.1:c.4887delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407691.1:c.4887delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407692.1:c.4878delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407694.1:c.4878delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407695.1:c.4878delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407696.1:c.4878delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407697.1:c.4878delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407698.1:c.4878delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407724.1:c.4878delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407725.1:c.4878delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407726.1:c.4878delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407727.1:c.4878delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407728.1:c.4878delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407729.1:c.4878delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407730.1:c.4878delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407731.1:c.4878delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407732.1:c.4875delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407733.1:c.4875delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407734.1:c.4875delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407735.1:c.4875delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407736.1:c.4875delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407737.1:c.4875delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407738.1:c.4875delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407739.1:c.4875delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407740.1:c.4875delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407741.1:c.4875delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407742.1:c.4875delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407743.1:c.4875delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407744.1:c.4875delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407745.1:c.4875delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407746.1:c.4875delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407747.1:c.4875delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407748.1:c.4875delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407749.1:c.4875delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407750.1:c.4875delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407751.1:c.4875delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407752.1:c.4875delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407838.1:c.4872delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407839.1:c.4872delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407841.1:c.4872delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407842.1:c.4872delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407843.1:c.4872delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407844.1:c.4872delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407845.1:c.4872delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407846.1:c.4872delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407847.1:c.4872delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407848.1:c.4872delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407849.1:c.4872delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407850.1:c.4872delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407851.1:c.4872delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407852.1:c.4872delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407853.1:c.4872delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407854.1:c.5019delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407858.1:c.5016delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407859.1:c.5016delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407860.1:c.5016delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407861.1:c.5013delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407862.1:c.4818delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407863.1:c.4893delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407874.1:c.4812delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407875.1:c.4812delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407879.1:c.4809delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407881.1:c.4809delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407882.1:c.4809delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407884.1:c.4809delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407885.1:c.4809delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407886.1:c.4809delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407887.1:c.4809delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407889.1:c.4809delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407894.1:c.4806delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407895.1:c.4806delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407896.1:c.4806delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407897.1:c.4806delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407898.1:c.4806delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407899.1:c.4806delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407900.1:c.4806delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407902.1:c.4806delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407904.1:c.4806delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407906.1:c.4806delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407907.1:c.4806delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407908.1:c.4806delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407909.1:c.4806delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407910.1:c.4806delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407915.1:c.4803delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407916.1:c.4803delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407917.1:c.4803delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407918.1:c.4803delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407919.1:c.4896delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407920.1:c.4755delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407921.1:c.4755delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407922.1:c.4755delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407923.1:c.4755delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407924.1:c.4755delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407925.1:c.4755delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407926.1:c.4755delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407927.1:c.4752delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407928.1:c.4752delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407929.1:c.4752delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407930.1:c.4752delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407931.1:c.4752delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407932.1:c.4752delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407933.1:c.4752delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407934.1:c.4749delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407935.1:c.4749delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407936.1:c.4749delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407937.1:c.4896delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407938.1:c.4896delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407939.1:c.4893delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407940.1:c.4893delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407941.1:c.4890delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407942.1:c.4878delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407943.1:c.4875delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407944.1:c.4875delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407945.1:c.4875delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407946.1:c.4686delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407947.1:c.4686delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407948.1:c.4686delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407949.1:c.4686delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407950.1:c.4683delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407951.1:c.4683delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407952.1:c.4683delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407953.1:c.4683delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407954.1:c.4683delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407955.1:c.4683delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407956.1:c.4680delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407957.1:c.4680delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407958.1:c.4680delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407959.1:c.4638delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407960.1:c.4635delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407962.1:c.4635delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407963.1:c.4632delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407964.1:c.4557delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407965.1:c.4512delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407966.1:c.4131delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407967.1:c.4128delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407968.1:c.2415delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407969.1:c.2412delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407970.1:c.1776delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407971.1:c.1776delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407972.1:c.1773delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407973.1:c.1710delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407974.1:c.1710delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407975.1:c.1710delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407976.1:c.1710delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407977.1:c.1710delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407978.1:c.1710delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407979.1:c.1707delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407980.1:c.1707delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407981.1:c.1707delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407982.1:c.1707delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407983.1:c.1707delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407984.1:c.1707delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407985.1:c.1707delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407986.1:c.1707delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407990.1:c.1707delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407991.1:c.1707delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407992.1:c.1707delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407993.1:c.1707delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408392.1:c.1704delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408396.1:c.1704delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408397.1:c.1704delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408398.1:c.1704delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408399.1:c.1704delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408400.1:c.1704delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408401.1:c.1704delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408402.1:c.1704delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408403.1:c.1704delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408404.1:c.1704delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408406.1:c.1701delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408407.1:c.1701delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408408.1:c.1701delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408409.1:c.1698delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408410.1:c.1635delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408411.1:c.1632delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408412.1:c.1629delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408413.1:c.1629delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408414.1:c.1629delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408415.1:c.1629delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408416.1:c.1629delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408418.1:c.1593delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408419.1:c.1593delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408420.1:c.1593delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408421.1:c.1590delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408422.1:c.1590delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408423.1:c.1590delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408424.1:c.1590delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408425.1:c.1587delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408426.1:c.1587delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408427.1:c.1587delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408428.1:c.1587delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408429.1:c.1587delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408430.1:c.1587delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408431.1:c.1587delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408432.1:c.1584delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408433.1:c.1584delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408434.1:c.1584delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408435.1:c.1584delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408436.1:c.1584delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408437.1:c.1584delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408438.1:c.1584delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408439.1:c.1584delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408440.1:c.1584delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408441.1:c.1584delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408442.1:c.1584delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408443.1:c.1584delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408444.1:c.1584delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408445.1:c.1581delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408446.1:c.1581delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408447.1:c.1581delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408448.1:c.1581delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408450.1:c.1581delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408451.1:c.1575delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408452.1:c.1569delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408453.1:c.1569delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408454.1:c.1569delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408455.1:c.1569delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408456.1:c.1569delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408457.1:c.1569delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408458.1:c.1566delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408459.1:c.1566delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408460.1:c.1566delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408461.1:c.1566delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408462.1:c.1566delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408463.1:c.1566delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408464.1:c.1566delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408465.1:c.1566delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408466.1:c.1566delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408467.1:c.1566delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408468.1:c.1563delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408469.1:c.1563delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408470.1:c.1563delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408472.1:c.1707delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408473.1:c.1704delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408474.1:c.1509delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408475.1:c.1506delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408476.1:c.1506delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408478.1:c.1500delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408479.1:c.1500delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408480.1:c.1500delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408481.1:c.1497delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408482.1:c.1497delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408483.1:c.1497delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408484.1:c.1497delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408485.1:c.1497delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408489.1:c.1497delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408490.1:c.1497delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408491.1:c.1497delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408492.1:c.1494delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408493.1:c.1494delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408494.1:c.1470delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408495.1:c.1464delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408496.1:c.1446delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408497.1:c.1446delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408498.1:c.1446delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408499.1:c.1446delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408500.1:c.1446delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408501.1:c.1446delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408502.1:c.1443delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408503.1:c.1443delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408504.1:c.1443delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408505.1:c.1440delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408506.1:c.1383delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408507.1:c.1380delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408508.1:c.1371delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408509.1:c.1368delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408510.1:c.1329delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408511.1:c.1326delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408512.1:c.1206delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001408513.1:c.1179delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_007294.4:c.5019del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_007297.4:c.4878del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_007298.4:c.1707delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_007299.4:c.1707del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_007300.4:c.5082del - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_007304.2:c.1707delC - frameshift variant - [Sequence Ontology: SO:0001589]
- NR_027676.2:n.5196del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
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 |
---|---|---|---|---|---|---|
SCV001133603 | Quest Diagnostics Nichols Institute San Juan Capistrano | criteria provided, single submitter (Quest Diagnostics criteria) | Pathogenic (Mar 4, 2019) | germline | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing |
Citations
PubMed
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.
Rebbeck TR, Friebel TM, Friedman E, Hamann U, Huo D, Kwong A, Olah E, Olopade OI, Solano AR, Teo SH, Thomassen M, Weitzel JN, Chan TL, Couch FJ, Goldgar DE, Kruse TA, Palmero EI, Park SK, Torres D, van Rensburg EJ, McGuffog L, Parsons MT, et al.
Hum Mutat. 2018 May;39(5):593-620. doi: 10.1002/humu.23406. Epub 2018 Mar 12.
- PMID:
- 29446198
- PMCID:
- PMC5903938
A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.
Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.
Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.
- PMID:
- 26467025
- PMCID:
- PMC4737317
Details of each submission
From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001133603.3
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (2) |
Description
The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Found in at least one symptomatic patient, and not found in general population data.
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
Last Updated: Oct 8, 2024