NM_007294.4(BRCA1):c.399_400del (p.Ala134fs) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Sep 8, 2016
Review status:: 3 stars out of maximum of 4 stars
reviewed by expert panel

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000112478.11

Allele description [Variation Report for NM_007294.4(BRCA1):c.399_400del (p.Ala134fs)]

NM_007294.4(BRCA1):c.399_400del (p.Ala134fs)

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.399_400del (p.Ala134fs)

Other names:

517delGT

HGVS:

NC_000017.11:g.43104164_43104165del
NG_005905.2:g.113820_113821del
NM_001407571.1:c.188_189delGT
NM_001407581.1:c.398_399delGT
NM_001407582.1:c.398_399delGT
NM_001407583.1:c.398_399delGT
NM_001407585.1:c.398_399delGT
NM_001407587.1:c.398_399delGT
NM_001407590.1:c.398_399delGT
NM_001407591.1:c.398_399delGT
NM_001407593.1:c.398_399delGT
NM_001407594.1:c.398_399delGT
NM_001407596.1:c.398_399delGT
NM_001407597.1:c.398_399delGT
NM_001407598.1:c.398_399delGT
NM_001407602.1:c.398_399delGT
NM_001407603.1:c.398_399delGT
NM_001407605.1:c.398_399delGT
NM_001407610.1:c.398_399delGT
NM_001407611.1:c.398_399delGT
NM_001407612.1:c.398_399delGT
NM_001407613.1:c.398_399delGT
NM_001407614.1:c.398_399delGT
NM_001407615.1:c.398_399delGT
NM_001407616.1:c.398_399delGT
NM_001407617.1:c.398_399delGT
NM_001407618.1:c.398_399delGT
NM_001407619.1:c.398_399delGT
NM_001407620.1:c.398_399delGT
NM_001407621.1:c.398_399delGT
NM_001407622.1:c.398_399delGT
NM_001407623.1:c.398_399delGT
NM_001407624.1:c.398_399delGT
NM_001407625.1:c.398_399delGT
NM_001407626.1:c.398_399delGT
NM_001407627.1:c.398_399delGT
NM_001407628.1:c.398_399delGT
NM_001407629.1:c.398_399delGT
NM_001407630.1:c.398_399delGT
NM_001407631.1:c.398_399delGT
NM_001407632.1:c.398_399delGT
NM_001407633.1:c.398_399delGT
NM_001407634.1:c.398_399delGT
NM_001407635.1:c.398_399delGT
NM_001407636.1:c.398_399delGT
NM_001407637.1:c.398_399delGT
NM_001407638.1:c.398_399delGT
NM_001407639.1:c.398_399delGT
NM_001407640.1:c.398_399delGT
NM_001407641.1:c.398_399delGT
NM_001407642.1:c.398_399delGT
NM_001407644.1:c.398_399delGT
NM_001407645.1:c.398_399delGT
NM_001407646.1:c.389_390delGT
NM_001407647.1:c.389_390delGT
NM_001407648.1:c.398_399delGT
NM_001407649.1:c.398_399delGT
NM_001407652.1:c.398_399delGT
NM_001407653.1:c.320_321delGT
NM_001407654.1:c.320_321delGT
NM_001407655.1:c.320_321delGT
NM_001407656.1:c.320_321delGT
NM_001407657.1:c.320_321delGT
NM_001407658.1:c.320_321delGT
NM_001407659.1:c.320_321delGT
NM_001407660.1:c.320_321delGT
NM_001407661.1:c.320_321delGT
NM_001407662.1:c.320_321delGT
NM_001407663.1:c.320_321delGT
NM_001407664.1:c.398_399delGT
NM_001407665.1:c.398_399delGT
NM_001407666.1:c.398_399delGT
NM_001407667.1:c.398_399delGT
NM_001407668.1:c.398_399delGT
NM_001407669.1:c.398_399delGT
NM_001407670.1:c.398_399delGT
NM_001407671.1:c.398_399delGT
NM_001407672.1:c.398_399delGT
NM_001407673.1:c.398_399delGT
NM_001407674.1:c.398_399delGT
NM_001407675.1:c.398_399delGT
NM_001407676.1:c.398_399delGT
NM_001407677.1:c.398_399delGT
NM_001407678.1:c.398_399delGT
NM_001407679.1:c.398_399delGT
NM_001407680.1:c.398_399delGT
NM_001407681.1:c.398_399delGT
NM_001407682.1:c.398_399delGT
NM_001407683.1:c.398_399delGT
NM_001407684.1:c.398_399delGT
NM_001407685.1:c.398_399delGT
NM_001407686.1:c.398_399delGT
NM_001407687.1:c.398_399delGT
NM_001407688.1:c.398_399delGT
NM_001407689.1:c.398_399delGT
NM_001407690.1:c.398_399delGT
NM_001407691.1:c.398_399delGT
NM_001407692.1:c.257_258delGT
NM_001407694.1:c.257_258delGT
NM_001407695.1:c.257_258delGT
NM_001407696.1:c.257_258delGT
NM_001407697.1:c.257_258delGT
NM_001407698.1:c.257_258delGT
NM_001407724.1:c.257_258delGT
NM_001407725.1:c.257_258delGT
NM_001407726.1:c.257_258delGT
NM_001407727.1:c.257_258delGT
NM_001407728.1:c.257_258delGT
NM_001407729.1:c.257_258delGT
NM_001407730.1:c.257_258delGT
NM_001407731.1:c.257_258delGT
NM_001407732.1:c.257_258delGT
NM_001407733.1:c.257_258delGT
NM_001407734.1:c.257_258delGT
NM_001407735.1:c.257_258delGT
NM_001407736.1:c.257_258delGT
NM_001407737.1:c.257_258delGT
NM_001407738.1:c.257_258delGT
NM_001407739.1:c.257_258delGT
NM_001407740.1:c.257_258delGT
NM_001407741.1:c.257_258delGT
NM_001407742.1:c.257_258delGT
NM_001407743.1:c.257_258delGT
NM_001407744.1:c.257_258delGT
NM_001407745.1:c.257_258delGT
NM_001407746.1:c.257_258delGT
NM_001407747.1:c.257_258delGT
NM_001407748.1:c.257_258delGT
NM_001407749.1:c.257_258delGT
NM_001407750.1:c.257_258delGT
NM_001407751.1:c.257_258delGT
NM_001407752.1:c.257_258delGT
NM_001407838.1:c.257_258delGT
NM_001407839.1:c.257_258delGT
NM_001407841.1:c.257_258delGT
NM_001407842.1:c.257_258delGT
NM_001407843.1:c.257_258delGT
NM_001407844.1:c.257_258delGT
NM_001407845.1:c.257_258delGT
NM_001407846.1:c.257_258delGT
NM_001407847.1:c.257_258delGT
NM_001407848.1:c.257_258delGT
NM_001407849.1:c.257_258delGT
NM_001407850.1:c.257_258delGT
NM_001407851.1:c.257_258delGT
NM_001407852.1:c.257_258delGT
NM_001407853.1:c.188_189delGT
NM_001407854.1:c.398_399delGT
NM_001407858.1:c.398_399delGT
NM_001407859.1:c.398_399delGT
NM_001407860.1:c.398_399delGT
NM_001407861.1:c.398_399delGT
NM_001407862.1:c.320_321delGT
NM_001407863.1:c.398_399delGT
NM_001407874.1:c.320_321delGT
NM_001407875.1:c.320_321delGT
NM_001407879.1:c.188_189delGT
NM_001407881.1:c.188_189delGT
NM_001407882.1:c.188_189delGT
NM_001407884.1:c.188_189delGT
NM_001407885.1:c.188_189delGT
NM_001407886.1:c.188_189delGT
NM_001407887.1:c.188_189delGT
NM_001407889.1:c.188_189delGT
NM_001407894.1:c.188_189delGT
NM_001407895.1:c.188_189delGT
NM_001407896.1:c.188_189delGT
NM_001407897.1:c.188_189delGT
NM_001407898.1:c.188_189delGT
NM_001407899.1:c.188_189delGT
NM_001407900.1:c.188_189delGT
NM_001407902.1:c.188_189delGT
NM_001407904.1:c.188_189delGT
NM_001407906.1:c.188_189delGT
NM_001407907.1:c.188_189delGT
NM_001407908.1:c.188_189delGT
NM_001407909.1:c.188_189delGT
NM_001407910.1:c.188_189delGT
NM_001407915.1:c.188_189delGT
NM_001407916.1:c.188_189delGT
NM_001407917.1:c.188_189delGT
NM_001407918.1:c.188_189delGT
NM_001407919.1:c.398_399delGT
NM_001407920.1:c.257_258delGT
NM_001407921.1:c.257_258delGT
NM_001407922.1:c.257_258delGT
NM_001407923.1:c.257_258delGT
NM_001407924.1:c.257_258delGT
NM_001407925.1:c.257_258delGT
NM_001407926.1:c.257_258delGT
NM_001407927.1:c.257_258delGT
NM_001407928.1:c.257_258delGT
NM_001407929.1:c.257_258delGT
NM_001407930.1:c.257_258delGT
NM_001407931.1:c.257_258delGT
NM_001407932.1:c.257_258delGT
NM_001407933.1:c.257_258delGT
NM_001407934.1:c.257_258delGT
NM_001407935.1:c.257_258delGT
NM_001407936.1:c.257_258delGT
NM_001407937.1:c.398_399delGT
NM_001407938.1:c.398_399delGT
NM_001407939.1:c.398_399delGT
NM_001407940.1:c.398_399delGT
NM_001407941.1:c.398_399delGT
NM_001407942.1:c.257_258delGT
NM_001407943.1:c.257_258delGT
NM_001407944.1:c.257_258delGT
NM_001407945.1:c.257_258delGT
NM_001407946.1:c.188_189delGT
NM_001407947.1:c.188_189delGT
NM_001407948.1:c.188_189delGT
NM_001407949.1:c.188_189delGT
NM_001407950.1:c.188_189delGT
NM_001407951.1:c.188_189delGT
NM_001407952.1:c.188_189delGT
NM_001407953.1:c.188_189delGT
NM_001407954.1:c.188_189delGT
NM_001407955.1:c.188_189delGT
NM_001407956.1:c.188_189delGT
NM_001407957.1:c.188_189delGT
NM_001407958.1:c.188_189delGT
NM_001407959.1:c.17_18delGT
NM_001407960.1:c.17_18delGT
NM_001407962.1:c.17_18delGT
NM_001407963.1:c.17_18delGT
NM_001407964.1:c.257_258delGT
NM_001407965.1:c.17_18delGT
NM_001407968.1:c.398_399delGT
NM_001407969.1:c.398_399delGT
NM_001407970.1:c.398_399delGT
NM_001407971.1:c.398_399delGT
NM_001407972.1:c.398_399delGT
NM_001407973.1:c.398_399delGT
NM_001407974.1:c.398_399delGT
NM_001407975.1:c.398_399delGT
NM_001407976.1:c.398_399delGT
NM_001407977.1:c.398_399delGT
NM_001407978.1:c.398_399delGT
NM_001407979.1:c.398_399delGT
NM_001407980.1:c.398_399delGT
NM_001407981.1:c.398_399delGT
NM_001407982.1:c.398_399delGT
NM_001407983.1:c.398_399delGT
NM_001407984.1:c.398_399delGT
NM_001407985.1:c.398_399delGT
NM_001407986.1:c.398_399delGT
NM_001407990.1:c.398_399delGT
NM_001407991.1:c.398_399delGT
NM_001407992.1:c.398_399delGT
NM_001407993.1:c.398_399delGT
NM_001408392.1:c.398_399delGT
NM_001408396.1:c.398_399delGT
NM_001408397.1:c.398_399delGT
NM_001408398.1:c.398_399delGT
NM_001408399.1:c.398_399delGT
NM_001408400.1:c.398_399delGT
NM_001408401.1:c.398_399delGT
NM_001408402.1:c.398_399delGT
NM_001408403.1:c.398_399delGT
NM_001408404.1:c.398_399delGT
NM_001408406.1:c.398_399delGT
NM_001408407.1:c.398_399delGT
NM_001408408.1:c.389_390delGT
NM_001408409.1:c.320_321delGT
NM_001408410.1:c.257_258delGT
NM_001408411.1:c.320_321delGT
NM_001408412.1:c.320_321delGT
NM_001408413.1:c.320_321delGT
NM_001408414.1:c.320_321delGT
NM_001408415.1:c.320_321delGT
NM_001408416.1:c.320_321delGT
NM_001408418.1:c.398_399delGT
NM_001408419.1:c.398_399delGT
NM_001408420.1:c.398_399delGT
NM_001408421.1:c.398_399delGT
NM_001408422.1:c.398_399delGT
NM_001408423.1:c.398_399delGT
NM_001408424.1:c.398_399delGT
NM_001408425.1:c.398_399delGT
NM_001408426.1:c.398_399delGT
NM_001408427.1:c.398_399delGT
NM_001408428.1:c.398_399delGT
NM_001408429.1:c.398_399delGT
NM_001408430.1:c.398_399delGT
NM_001408431.1:c.398_399delGT
NM_001408432.1:c.398_399delGT
NM_001408433.1:c.398_399delGT
NM_001408434.1:c.398_399delGT
NM_001408435.1:c.398_399delGT
NM_001408436.1:c.398_399delGT
NM_001408437.1:c.398_399delGT
NM_001408438.1:c.398_399delGT
NM_001408439.1:c.398_399delGT
NM_001408440.1:c.398_399delGT
NM_001408441.1:c.398_399delGT
NM_001408442.1:c.398_399delGT
NM_001408443.1:c.398_399delGT
NM_001408444.1:c.398_399delGT
NM_001408445.1:c.398_399delGT
NM_001408446.1:c.398_399delGT
NM_001408447.1:c.398_399delGT
NM_001408448.1:c.398_399delGT
NM_001408450.1:c.398_399delGT
NM_001408451.1:c.266_267delGT
NM_001408452.1:c.257_258delGT
NM_001408453.1:c.257_258delGT
NM_001408454.1:c.257_258delGT
NM_001408455.1:c.257_258delGT
NM_001408456.1:c.257_258delGT
NM_001408457.1:c.257_258delGT
NM_001408458.1:c.257_258delGT
NM_001408459.1:c.257_258delGT
NM_001408460.1:c.257_258delGT
NM_001408461.1:c.257_258delGT
NM_001408462.1:c.257_258delGT
NM_001408463.1:c.257_258delGT
NM_001408464.1:c.257_258delGT
NM_001408465.1:c.257_258delGT
NM_001408466.1:c.257_258delGT
NM_001408467.1:c.257_258delGT
NM_001408468.1:c.257_258delGT
NM_001408469.1:c.257_258delGT
NM_001408470.1:c.257_258delGT
NM_001408472.1:c.398_399delGT
NM_001408473.1:c.398_399delGT
NM_001408474.1:c.320_321delGT
NM_001408475.1:c.320_321delGT
NM_001408476.1:c.320_321delGT
NM_001408478.1:c.188_189delGT
NM_001408479.1:c.188_189delGT
NM_001408480.1:c.188_189delGT
NM_001408481.1:c.188_189delGT
NM_001408482.1:c.188_189delGT
NM_001408483.1:c.188_189delGT
NM_001408484.1:c.188_189delGT
NM_001408485.1:c.188_189delGT
NM_001408489.1:c.188_189delGT
NM_001408490.1:c.188_189delGT
NM_001408491.1:c.188_189delGT
NM_001408492.1:c.188_189delGT
NM_001408493.1:c.188_189delGT
NM_001408494.1:c.398_399delGT
NM_001408495.1:c.398_399delGT
NM_001408496.1:c.257_258delGT
NM_001408497.1:c.257_258delGT
NM_001408498.1:c.257_258delGT
NM_001408499.1:c.257_258delGT
NM_001408500.1:c.257_258delGT
NM_001408501.1:c.257_258delGT
NM_001408502.1:c.188_189delGT
NM_001408503.1:c.257_258delGT
NM_001408504.1:c.257_258delGT
NM_001408505.1:c.257_258delGT
NM_001408506.1:c.188_189delGT
NM_001408507.1:c.188_189delGT
NM_001408508.1:c.188_189delGT
NM_001408509.1:c.188_189delGT
NM_001408510.1:c.17_18delGT
NM_001408511.1:c.257_258delGT
NM_001408512.1:c.17_18delGT
NM_001408513.1:c.188_189delGT
NM_001408514.1:c.188_189delGT
NM_007294.4:c.399_400delMANE SELECT
NM_007297.4:c.258_259del
NM_007298.4:c.398_399delGT
NM_007299.4:c.399_400del
NM_007300.4:c.399_400del
NM_007304.2:c.398_399delGT
NP_001394500.1:p.Ala64Glnfs
NP_001394510.1:p.Ala134Glnfs
NP_001394511.1:p.Ala134Glnfs
NP_001394512.1:p.Ala134Glnfs
NP_001394514.1:p.Ala134Glnfs
NP_001394516.1:p.Ala134Glnfs
NP_001394519.1:p.Ala134Glnfs
NP_001394520.1:p.Ala134Glnfs
NP_001394522.1:p.Ala134Glnfs
NP_001394523.1:p.Ala134Glnfs
NP_001394525.1:p.Ala134Glnfs
NP_001394526.1:p.Ala134Glnfs
NP_001394527.1:p.Ala134Glnfs
NP_001394531.1:p.Ala134Glnfs
NP_001394532.1:p.Ala134Glnfs
NP_001394534.1:p.Ala134Glnfs
NP_001394539.1:p.Ala134Glnfs
NP_001394540.1:p.Ala134Glnfs
NP_001394541.1:p.Ala134Glnfs
NP_001394542.1:p.Ala134Glnfs
NP_001394543.1:p.Ala134Glnfs
NP_001394544.1:p.Ala134Glnfs
NP_001394545.1:p.Ala134Glnfs
NP_001394546.1:p.Ala134Glnfs
NP_001394547.1:p.Ala134Glnfs
NP_001394548.1:p.Ala134Glnfs
NP_001394549.1:p.Ala134Glnfs
NP_001394550.1:p.Ala134Glnfs
NP_001394551.1:p.Ala134Glnfs
NP_001394552.1:p.Ala134Glnfs
NP_001394553.1:p.Ala134Glnfs
NP_001394554.1:p.Ala134Glnfs
NP_001394555.1:p.Ala134Glnfs
NP_001394556.1:p.Ala134Glnfs
NP_001394557.1:p.Ala134Glnfs
NP_001394558.1:p.Ala134Glnfs
NP_001394559.1:p.Ala134Glnfs
NP_001394560.1:p.Ala134Glnfs
NP_001394561.1:p.Ala134Glnfs
NP_001394562.1:p.Ala134Glnfs
NP_001394563.1:p.Ala134Glnfs
NP_001394564.1:p.Ala134Glnfs
NP_001394565.1:p.Ala134Glnfs
NP_001394566.1:p.Ala134Glnfs
NP_001394567.1:p.Ala134Glnfs
NP_001394568.1:p.Ala134Glnfs
NP_001394569.1:p.Ala134Glnfs
NP_001394570.1:p.Ala134Glnfs
NP_001394571.1:p.Ala134Glnfs
NP_001394573.1:p.Ala134Glnfs
NP_001394574.1:p.Ala134Glnfs
NP_001394575.1:p.Ala131Glnfs
NP_001394576.1:p.Ala131Glnfs
NP_001394577.1:p.Ala134Glnfs
NP_001394578.1:p.Ala134Glnfs
NP_001394581.1:p.Ala134Glnfs
NP_001394582.1:p.Ala108Glnfs
NP_001394583.1:p.Ala108Glnfs
NP_001394584.1:p.Ala108Glnfs
NP_001394585.1:p.Ala108Glnfs
NP_001394586.1:p.Ala108Glnfs
NP_001394587.1:p.Ala108Glnfs
NP_001394588.1:p.Ala108Glnfs
NP_001394589.1:p.Ala108Glnfs
NP_001394590.1:p.Ala108Glnfs
NP_001394591.1:p.Ala108Glnfs
NP_001394592.1:p.Ala108Glnfs
NP_001394593.1:p.Ala134Glnfs
NP_001394594.1:p.Ala134Glnfs
NP_001394595.1:p.Ala134Glnfs
NP_001394596.1:p.Ala134Glnfs
NP_001394597.1:p.Ala134Glnfs
NP_001394598.1:p.Ala134Glnfs
NP_001394599.1:p.Ala134Glnfs
NP_001394600.1:p.Ala134Glnfs
NP_001394601.1:p.Ala134Glnfs
NP_001394602.1:p.Ala134Glnfs
NP_001394603.1:p.Ala134Glnfs
NP_001394604.1:p.Ala134Glnfs
NP_001394605.1:p.Ala134Glnfs
NP_001394606.1:p.Ala134Glnfs
NP_001394607.1:p.Ala134Glnfs
NP_001394608.1:p.Ala134Glnfs
NP_001394609.1:p.Ala134Glnfs
NP_001394610.1:p.Ala134Glnfs
NP_001394611.1:p.Ala134Glnfs
NP_001394612.1:p.Ala134Glnfs
NP_001394613.1:p.Ala134Glnfs
NP_001394614.1:p.Ala134Glnfs
NP_001394615.1:p.Ala134Glnfs
NP_001394616.1:p.Ala134Glnfs
NP_001394617.1:p.Ala134Glnfs
NP_001394618.1:p.Ala134Glnfs
NP_001394619.1:p.Ala134Glnfs
NP_001394620.1:p.Ala134Glnfs
NP_001394621.1:p.Ala87Glnfs
NP_001394623.1:p.Ala87Glnfs
NP_001394624.1:p.Ala87Glnfs
NP_001394625.1:p.Ala87Glnfs
NP_001394626.1:p.Ala87Glnfs
NP_001394627.1:p.Ala87Glnfs
NP_001394653.1:p.Ala87Glnfs
NP_001394654.1:p.Ala87Glnfs
NP_001394655.1:p.Ala87Glnfs
NP_001394656.1:p.Ala87Glnfs
NP_001394657.1:p.Ala87Glnfs
NP_001394658.1:p.Ala87Glnfs
NP_001394659.1:p.Ala87Glnfs
NP_001394660.1:p.Ala87Glnfs
NP_001394661.1:p.Ala87Glnfs
NP_001394662.1:p.Ala87Glnfs
NP_001394663.1:p.Ala87Glnfs
NP_001394664.1:p.Ala87Glnfs
NP_001394665.1:p.Ala87Glnfs
NP_001394666.1:p.Ala87Glnfs
NP_001394667.1:p.Ala87Glnfs
NP_001394668.1:p.Ala87Glnfs
NP_001394669.1:p.Ala87Glnfs
NP_001394670.1:p.Ala87Glnfs
NP_001394671.1:p.Ala87Glnfs
NP_001394672.1:p.Ala87Glnfs
NP_001394673.1:p.Ala87Glnfs
NP_001394674.1:p.Ala87Glnfs
NP_001394675.1:p.Ala87Glnfs
NP_001394676.1:p.Ala87Glnfs
NP_001394677.1:p.Ala87Glnfs
NP_001394678.1:p.Ala87Glnfs
NP_001394679.1:p.Ala87Glnfs
NP_001394680.1:p.Ala87Glnfs
NP_001394681.1:p.Ala87Glnfs
NP_001394767.1:p.Ala87Glnfs
NP_001394768.1:p.Ala87Glnfs
NP_001394770.1:p.Ala87Glnfs
NP_001394771.1:p.Ala87Glnfs
NP_001394772.1:p.Ala87Glnfs
NP_001394773.1:p.Ala87Glnfs
NP_001394774.1:p.Ala87Glnfs
NP_001394775.1:p.Ala87Glnfs
NP_001394776.1:p.Ala87Glnfs
NP_001394777.1:p.Ala87Glnfs
NP_001394778.1:p.Ala87Glnfs
NP_001394779.1:p.Ala87Glnfs
NP_001394780.1:p.Ala87Glnfs
NP_001394781.1:p.Ala87Glnfs
NP_001394782.1:p.Ala64Glnfs
NP_001394783.1:p.Ala134Glnfs
NP_001394787.1:p.Ala134Glnfs
NP_001394788.1:p.Ala134Glnfs
NP_001394789.1:p.Ala134Glnfs
NP_001394790.1:p.Ala134Glnfs
NP_001394791.1:p.Ala108Glnfs
NP_001394792.1:p.Ala134Glnfs
NP_001394803.1:p.Ala108Glnfs
NP_001394804.1:p.Ala108Glnfs
NP_001394808.1:p.Ala64Glnfs
NP_001394810.1:p.Ala64Glnfs
NP_001394811.1:p.Ala64Glnfs
NP_001394813.1:p.Ala64Glnfs
NP_001394814.1:p.Ala64Glnfs
NP_001394815.1:p.Ala64Glnfs
NP_001394816.1:p.Ala64Glnfs
NP_001394818.1:p.Ala64Glnfs
NP_001394823.1:p.Ala64Glnfs
NP_001394824.1:p.Ala64Glnfs
NP_001394825.1:p.Ala64Glnfs
NP_001394826.1:p.Ala64Glnfs
NP_001394827.1:p.Ala64Glnfs
NP_001394828.1:p.Ala64Glnfs
NP_001394829.1:p.Ala64Glnfs
NP_001394831.1:p.Ala64Glnfs
NP_001394833.1:p.Ala64Glnfs
NP_001394835.1:p.Ala64Glnfs
NP_001394836.1:p.Ala64Glnfs
NP_001394837.1:p.Ala64Glnfs
NP_001394838.1:p.Ala64Glnfs
NP_001394839.1:p.Ala64Glnfs
NP_001394844.1:p.Ala64Glnfs
NP_001394845.1:p.Ala64Glnfs
NP_001394846.1:p.Ala64Glnfs
NP_001394847.1:p.Ala64Glnfs
NP_001394848.1:p.Ala134Glnfs
NP_001394849.1:p.Ala87Glnfs
NP_001394850.1:p.Ala87Glnfs
NP_001394851.1:p.Ala87Glnfs
NP_001394852.1:p.Ala87Glnfs
NP_001394853.1:p.Ala87Glnfs
NP_001394854.1:p.Ala87Glnfs
NP_001394855.1:p.Ala87Glnfs
NP_001394856.1:p.Ala87Glnfs
NP_001394857.1:p.Ala87Glnfs
NP_001394858.1:p.Ala87Glnfs
NP_001394859.1:p.Ala87Glnfs
NP_001394860.1:p.Ala87Glnfs
NP_001394861.1:p.Ala87Glnfs
NP_001394862.1:p.Ala87Glnfs
NP_001394863.1:p.Ala87Glnfs
NP_001394864.1:p.Ala87Glnfs
NP_001394865.1:p.Ala87Glnfs
NP_001394866.1:p.Ala134Glnfs
NP_001394867.1:p.Ala134Glnfs
NP_001394868.1:p.Ala134Glnfs
NP_001394869.1:p.Ala134Glnfs
NP_001394870.1:p.Ala134Glnfs
NP_001394871.1:p.Ala87Glnfs
NP_001394872.1:p.Ala87Glnfs
NP_001394873.1:p.Ala87Glnfs
NP_001394874.1:p.Ala87Glnfs
NP_001394875.1:p.Ala64Glnfs
NP_001394876.1:p.Ala64Glnfs
NP_001394877.1:p.Ala64Glnfs
NP_001394878.1:p.Ala64Glnfs
NP_001394879.1:p.Ala64Glnfs
NP_001394880.1:p.Ala64Glnfs
NP_001394881.1:p.Ala64Glnfs
NP_001394882.1:p.Ala64Glnfs
NP_001394883.1:p.Ala64Glnfs
NP_001394884.1:p.Ala64Glnfs
NP_001394885.1:p.Ala64Glnfs
NP_001394886.1:p.Ala64Glnfs
NP_001394887.1:p.Ala64Glnfs
NP_001394888.1:p.Ala7Glnfs
NP_001394889.1:p.Ala7Glnfs
NP_001394891.1:p.Ala7Glnfs
NP_001394892.1:p.Ala7Glnfs
NP_001394893.1:p.Ala87Glnfs
NP_001394894.1:p.Ala7Glnfs
NP_001394897.1:p.Ala134Glnfs
NP_001394898.1:p.Ala134Glnfs
NP_001394899.1:p.Ala134Glnfs
NP_001394900.1:p.Ala134Glnfs
NP_001394901.1:p.Ala134Glnfs
NP_001394902.1:p.Ala134Glnfs
NP_001394903.1:p.Ala134Glnfs
NP_001394904.1:p.Ala134Glnfs
NP_001394905.1:p.Ala134Glnfs
NP_001394906.1:p.Ala134Glnfs
NP_001394907.1:p.Ala134Glnfs
NP_001394908.1:p.Ala134Glnfs
NP_001394909.1:p.Ala134Glnfs
NP_001394910.1:p.Ala134Glnfs
NP_001394911.1:p.Ala134Glnfs
NP_001394912.1:p.Ala134Glnfs
NP_001394913.1:p.Ala134Glnfs
NP_001394914.1:p.Ala134Glnfs
NP_001394915.1:p.Ala134Glnfs
NP_001394919.1:p.Ala134Glnfs
NP_001394920.1:p.Ala134Glnfs
NP_001394921.1:p.Ala134Glnfs
NP_001394922.1:p.Ala134Glnfs
NP_001395321.1:p.Ala134Glnfs
NP_001395325.1:p.Ala134Glnfs
NP_001395326.1:p.Ala134Glnfs
NP_001395327.1:p.Ala134Glnfs
NP_001395328.1:p.Ala134Glnfs
NP_001395329.1:p.Ala134Glnfs
NP_001395330.1:p.Ala134Glnfs
NP_001395331.1:p.Ala134Glnfs
NP_001395332.1:p.Ala134Glnfs
NP_001395333.1:p.Ala134Glnfs
NP_001395335.1:p.Ala134Glnfs
NP_001395336.1:p.Ala134Glnfs
NP_001395337.1:p.Ala131Glnfs
NP_001395338.1:p.Ala108Glnfs
NP_001395339.1:p.Ala87Glnfs
NP_001395340.1:p.Ala108Glnfs
NP_001395341.1:p.Ala108Glnfs
NP_001395342.1:p.Ala108Glnfs
NP_001395343.1:p.Ala108Glnfs
NP_001395344.1:p.Ala108Glnfs
NP_001395345.1:p.Ala108Glnfs
NP_001395347.1:p.Ala134Glnfs
NP_001395348.1:p.Ala134Glnfs
NP_001395349.1:p.Ala134Glnfs
NP_001395350.1:p.Ala134Glnfs
NP_001395351.1:p.Ala134Glnfs
NP_001395352.1:p.Ala134Glnfs
NP_001395353.1:p.Ala134Glnfs
NP_001395354.1:p.Ala134Glnfs
NP_001395355.1:p.Ala134Glnfs
NP_001395356.1:p.Ala134Glnfs
NP_001395357.1:p.Ala134Glnfs
NP_001395358.1:p.Ala134Glnfs
NP_001395359.1:p.Ala134Glnfs
NP_001395360.1:p.Ala134Glnfs
NP_001395361.1:p.Ala134Glnfs
NP_001395362.1:p.Ala134Glnfs
NP_001395363.1:p.Ala134Glnfs
NP_001395364.1:p.Ala134Glnfs
NP_001395365.1:p.Ala134Glnfs
NP_001395366.1:p.Ala134Glnfs
NP_001395367.1:p.Ala134Glnfs
NP_001395368.1:p.Ala134Glnfs
NP_001395369.1:p.Ala134Glnfs
NP_001395370.1:p.Ala134Glnfs
NP_001395371.1:p.Ala134Glnfs
NP_001395372.1:p.Ala134Glnfs
NP_001395373.1:p.Ala134Glnfs
NP_001395374.1:p.Ala134Glnfs
NP_001395375.1:p.Ala134Glnfs
NP_001395376.1:p.Ala134Glnfs
NP_001395377.1:p.Ala134Glnfs
NP_001395379.1:p.Ala134Glnfs
NP_001395380.1:p.Ala90Glnfs
NP_001395381.1:p.Ala87Glnfs
NP_001395382.1:p.Ala87Glnfs
NP_001395383.1:p.Ala87Glnfs
NP_001395384.1:p.Ala87Glnfs
NP_001395385.1:p.Ala87Glnfs
NP_001395386.1:p.Ala87Glnfs
NP_001395387.1:p.Ala87Glnfs
NP_001395388.1:p.Ala87Glnfs
NP_001395389.1:p.Ala87Glnfs
NP_001395390.1:p.Ala87Glnfs
NP_001395391.1:p.Ala87Glnfs
NP_001395392.1:p.Ala87Glnfs
NP_001395393.1:p.Ala87Glnfs
NP_001395394.1:p.Ala87Glnfs
NP_001395395.1:p.Ala87Glnfs
NP_001395396.1:p.Ala87Glnfs
NP_001395397.1:p.Ala87Glnfs
NP_001395398.1:p.Ala87Glnfs
NP_001395399.1:p.Ala87Glnfs
NP_001395401.1:p.Ala134Glnfs
NP_001395402.1:p.Ala134Glnfs
NP_001395403.1:p.Ala108Glnfs
NP_001395404.1:p.Ala108Glnfs
NP_001395405.1:p.Ala108Glnfs
NP_001395407.1:p.Ala64Glnfs
NP_001395408.1:p.Ala64Glnfs
NP_001395409.1:p.Ala64Glnfs
NP_001395410.1:p.Ala64Glnfs
NP_001395411.1:p.Ala64Glnfs
NP_001395412.1:p.Ala64Glnfs
NP_001395413.1:p.Ala64Glnfs
NP_001395414.1:p.Ala64Glnfs
NP_001395418.1:p.Ala64Glnfs
NP_001395419.1:p.Ala64Glnfs
NP_001395420.1:p.Ala64Glnfs
NP_001395421.1:p.Ala64Glnfs
NP_001395422.1:p.Ala64Glnfs
NP_001395423.1:p.Ala134Glnfs
NP_001395424.1:p.Ala134Glnfs
NP_001395425.1:p.Ala87Glnfs
NP_001395426.1:p.Ala87Glnfs
NP_001395427.1:p.Ala87Glnfs
NP_001395428.1:p.Ala87Glnfs
NP_001395429.1:p.Ala87Glnfs
NP_001395430.1:p.Ala87Glnfs
NP_001395431.1:p.Ala64Glnfs
NP_001395432.1:p.Ala87Glnfs
NP_001395433.1:p.Ala87Glnfs
NP_001395434.1:p.Ala87Glnfs
NP_001395435.1:p.Ala64Glnfs
NP_001395436.1:p.Ala64Glnfs
NP_001395437.1:p.Ala64Glnfs
NP_001395438.1:p.Ala64Glnfs
NP_001395439.1:p.Ala7Glnfs
NP_001395440.1:p.Ala87Glnfs
NP_001395441.1:p.Ala7Glnfs
NP_001395442.1:p.Ala64Glnfs
NP_001395443.1:p.Ala64Glnfs
NP_009225.1:p.Ala134Glnfs
NP_009225.1:p.Ala134fs
NP_009228.2:p.Ala87fs
NP_009229.2:p.Ala134Glnfs
NP_009229.2:p.Ala134fs
NP_009230.2:p.Ala134fs
NP_009231.2:p.Ala134fs
NP_009235.2:p.Ala134Glnfs
LRG_292t1:c.398_399del
LRG_292:g.113820_113821del
LRG_292p1:p.Ala134Glnfs
NC_000017.10:g.41256181_41256182del
NM_007294.3:c.398_399delGT
NM_007294.3:c.399_400delTG
NM_007298.3:c.399_400del
NR_027676.2:n.579_580del
U14680.1:n.517_518delGT

Protein change:

A134fs

Links:

Breast Cancer Information Core (BIC) (BRCA1): 517&base_change=del GT; dbSNP: rs80357568

NCBI 1000 Genomes Browser:

rs80357568

Molecular consequence:

NM_001407571.1:c.188_189delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407581.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407582.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407583.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407585.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407587.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407590.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407591.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407593.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407594.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407596.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407597.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407598.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407602.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407603.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407605.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407610.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407611.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407612.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407613.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407614.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407615.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407616.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407617.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407618.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407619.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407620.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407621.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407622.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407623.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407624.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407625.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407626.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407627.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407628.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407629.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407630.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407631.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407632.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407633.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407634.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407635.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407636.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407637.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407638.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407639.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407640.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407641.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407642.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407644.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407645.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407646.1:c.389_390delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407647.1:c.389_390delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407648.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407649.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407652.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407653.1:c.320_321delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407654.1:c.320_321delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407655.1:c.320_321delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407656.1:c.320_321delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407657.1:c.320_321delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407658.1:c.320_321delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407659.1:c.320_321delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407660.1:c.320_321delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407661.1:c.320_321delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407662.1:c.320_321delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407663.1:c.320_321delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407664.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407665.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407666.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407667.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407668.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407669.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407670.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407671.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407672.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407673.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407674.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407675.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407676.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407677.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407678.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407679.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407680.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407681.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407682.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407683.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407684.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407685.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407686.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407687.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407688.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407689.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407690.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407691.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407692.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407694.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407695.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407696.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407697.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407698.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407724.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407725.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407726.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407727.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407728.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407729.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407730.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407731.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407732.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407733.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407734.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407735.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407736.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407737.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407738.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407739.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407740.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407741.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407742.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407743.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407744.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407745.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407746.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407747.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407748.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407749.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407750.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407751.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407752.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407838.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407839.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407841.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407842.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407843.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407844.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407845.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407846.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407847.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407848.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407849.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407850.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407851.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407852.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407853.1:c.188_189delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407854.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407858.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407859.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407860.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407861.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407862.1:c.320_321delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407863.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407874.1:c.320_321delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407875.1:c.320_321delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407879.1:c.188_189delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407881.1:c.188_189delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407882.1:c.188_189delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407884.1:c.188_189delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407885.1:c.188_189delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407886.1:c.188_189delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407887.1:c.188_189delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407889.1:c.188_189delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407894.1:c.188_189delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407895.1:c.188_189delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407896.1:c.188_189delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407897.1:c.188_189delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407898.1:c.188_189delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407899.1:c.188_189delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407900.1:c.188_189delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407902.1:c.188_189delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407904.1:c.188_189delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407906.1:c.188_189delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407907.1:c.188_189delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407908.1:c.188_189delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407909.1:c.188_189delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407910.1:c.188_189delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407915.1:c.188_189delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407916.1:c.188_189delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407917.1:c.188_189delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407918.1:c.188_189delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407919.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407920.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407921.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407922.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407923.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407924.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407925.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407926.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407927.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407928.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407929.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407930.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407931.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407932.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407933.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407934.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407935.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407936.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407937.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407938.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407939.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407940.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407941.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407942.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407943.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407944.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407945.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407946.1:c.188_189delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407947.1:c.188_189delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407948.1:c.188_189delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407949.1:c.188_189delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407950.1:c.188_189delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407951.1:c.188_189delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407952.1:c.188_189delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407953.1:c.188_189delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407954.1:c.188_189delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407955.1:c.188_189delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407956.1:c.188_189delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407957.1:c.188_189delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407958.1:c.188_189delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407959.1:c.17_18delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407960.1:c.17_18delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407962.1:c.17_18delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407963.1:c.17_18delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407964.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407965.1:c.17_18delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407968.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407969.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407970.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407971.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407972.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407973.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407974.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407975.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407976.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407977.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407978.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407979.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407980.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407981.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407982.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407983.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407984.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407985.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407986.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407990.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407991.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407992.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407993.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408392.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408396.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408397.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408398.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408399.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408400.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408401.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408402.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408403.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408404.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408406.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408407.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408408.1:c.389_390delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408409.1:c.320_321delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408410.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408411.1:c.320_321delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408412.1:c.320_321delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408413.1:c.320_321delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408414.1:c.320_321delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408415.1:c.320_321delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408416.1:c.320_321delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408418.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408419.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408420.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408421.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408422.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408423.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408424.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408425.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408426.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408427.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408428.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408429.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408430.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408431.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408432.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408433.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408434.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408435.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408436.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408437.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408438.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408439.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408440.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408441.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408442.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408443.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408444.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408445.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408446.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408447.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408448.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408450.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408451.1:c.266_267delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408452.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408453.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408454.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408455.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408456.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408457.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408458.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408459.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408460.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408461.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408462.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408463.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408464.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408465.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408466.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408467.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408468.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408469.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408470.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408472.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408473.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408474.1:c.320_321delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408475.1:c.320_321delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408476.1:c.320_321delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408478.1:c.188_189delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408479.1:c.188_189delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408480.1:c.188_189delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408481.1:c.188_189delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408482.1:c.188_189delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408483.1:c.188_189delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408484.1:c.188_189delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408485.1:c.188_189delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408489.1:c.188_189delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408490.1:c.188_189delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408491.1:c.188_189delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408492.1:c.188_189delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408493.1:c.188_189delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408494.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408495.1:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408496.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408497.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408498.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408499.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408500.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408501.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408502.1:c.188_189delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408503.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408504.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408505.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408506.1:c.188_189delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408507.1:c.188_189delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408508.1:c.188_189delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408509.1:c.188_189delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408510.1:c.17_18delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408511.1:c.257_258delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408512.1:c.17_18delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408513.1:c.188_189delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408514.1:c.188_189delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007294.4:c.399_400del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007297.4:c.258_259del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007298.4:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007299.4:c.399_400del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007300.4:c.399_400del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007304.2:c.398_399delGT - frameshift variant - [Sequence Ontology: SO:0001589]
NR_027676.2:n.579_580del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Name:: Breast-ovarian cancer, familial, susceptibility to, 1 (BROVCA1)
Synonyms:: OVARIAN CANCER, SUSCEPTIBILITY TO; Breast cancer, familial 1
Identifiers:: MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000145280	Breast Cancer Information Core (BIC) (BRCA1)	no assertion criteria provided	Pathogenic	germline	clinical testing
SCV000299452	Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	reviewed by expert panel (ENIGMA BRCA1/2 Classification Criteria (2015))	Pathogenic (Sep 8, 2016)	germline	curation	ENIGMA BRCA1/2 Classification Criteria (2015) Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000145280

Breast Cancer Information Core (BIC) (BRCA1)

no assertion criteria provided

Pathogenic

germline

clinical testing

SCV000299452

Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)

reviewed by expert panel

(ENIGMA BRCA1/2 Classification Criteria (2015))

Pathogenic
(Sep 8, 2016)

germline

curation

ENIGMA BRCA1/2 Classification Criteria (2015)

Citation Link

Help

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	curation
Caucasian	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA1), SCV000145280.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Caucasian	1	not provided	not provided	clinical testing	not provided

#	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		1	not provided	not provided	not provided

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000299452.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	not provided

Description

Variant allele predicted to encode a truncated non-functional protein.

#	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: Nov 10, 2024

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