NM_007294.4(BRCA1):c.3279_3280del (p.Val1093_Tyr1094insTer) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:: Pathogenic (1 submission)
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:: RCV000241487.3

Allele description [Variation Report for NM_007294.4(BRCA1):c.3279_3280del (p.Val1093_Tyr1094insTer)]

NM_007294.4(BRCA1):c.3279_3280del (p.Val1093_Tyr1094insTer)

Genes:

BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
LOC126862571:BRD4-independent group 4 enhancer GRCh37_chr17:41243136-41244335 [Gene]

Variant type:

Deletion

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.3279_3280del (p.Val1093_Tyr1094insTer)

HGVS:

NC_000017.11:g.43092252_43092253del
NG_005905.2:g.125732_125733del
NG_087068.1:g.1234_1235del
NM_001407571.1:c.3066_3067del
NM_001407581.1:c.3279_3280del
NM_001407582.1:c.3279_3280del
NM_001407583.1:c.3279_3280del
NM_001407585.1:c.3279_3280del
NM_001407587.1:c.3276_3277del
NM_001407590.1:c.3276_3277del
NM_001407591.1:c.3276_3277del
NM_001407593.1:c.3279_3280del
NM_001407594.1:c.3279_3280del
NM_001407596.1:c.3279_3280del
NM_001407597.1:c.3279_3280del
NM_001407598.1:c.3279_3280del
NM_001407602.1:c.3279_3280del
NM_001407603.1:c.3279_3280del
NM_001407605.1:c.3279_3280del
NM_001407610.1:c.3276_3277del
NM_001407611.1:c.3276_3277del
NM_001407612.1:c.3276_3277del
NM_001407613.1:c.3276_3277del
NM_001407614.1:c.3276_3277del
NM_001407615.1:c.3276_3277del
NM_001407616.1:c.3279_3280del
NM_001407617.1:c.3279_3280del
NM_001407618.1:c.3279_3280del
NM_001407619.1:c.3279_3280del
NM_001407620.1:c.3279_3280del
NM_001407621.1:c.3279_3280del
NM_001407622.1:c.3279_3280del
NM_001407623.1:c.3279_3280del
NM_001407624.1:c.3279_3280del
NM_001407625.1:c.3279_3280del
NM_001407626.1:c.3279_3280del
NM_001407627.1:c.3276_3277del
NM_001407628.1:c.3276_3277del
NM_001407629.1:c.3276_3277del
NM_001407630.1:c.3276_3277del
NM_001407631.1:c.3276_3277del
NM_001407632.1:c.3276_3277del
NM_001407633.1:c.3276_3277del
NM_001407634.1:c.3276_3277del
NM_001407635.1:c.3276_3277del
NM_001407636.1:c.3276_3277del
NM_001407637.1:c.3276_3277del
NM_001407638.1:c.3276_3277del
NM_001407639.1:c.3279_3280del
NM_001407640.1:c.3279_3280del
NM_001407641.1:c.3279_3280del
NM_001407642.1:c.3279_3280del
NM_001407644.1:c.3276_3277del
NM_001407645.1:c.3276_3277del
NM_001407646.1:c.3270_3271del
NM_001407647.1:c.3270_3271del
NM_001407648.1:c.3156_3157del
NM_001407649.1:c.3153_3154del
NM_001407652.1:c.3279_3280del
NM_001407653.1:c.3201_3202del
NM_001407654.1:c.3201_3202del
NM_001407655.1:c.3201_3202del
NM_001407656.1:c.3201_3202del
NM_001407657.1:c.3201_3202del
NM_001407658.1:c.3201_3202del
NM_001407659.1:c.3198_3199del
NM_001407660.1:c.3198_3199del
NM_001407661.1:c.3198_3199del
NM_001407662.1:c.3198_3199del
NM_001407663.1:c.3201_3202del
NM_001407664.1:c.3156_3157del
NM_001407665.1:c.3156_3157del
NM_001407666.1:c.3156_3157del
NM_001407667.1:c.3156_3157del
NM_001407668.1:c.3156_3157del
NM_001407669.1:c.3156_3157del
NM_001407670.1:c.3153_3154del
NM_001407671.1:c.3153_3154del
NM_001407672.1:c.3153_3154del
NM_001407673.1:c.3153_3154del
NM_001407674.1:c.3156_3157del
NM_001407675.1:c.3156_3157del
NM_001407676.1:c.3156_3157del
NM_001407677.1:c.3156_3157del
NM_001407678.1:c.3156_3157del
NM_001407679.1:c.3156_3157del
NM_001407680.1:c.3156_3157del
NM_001407681.1:c.3156_3157del
NM_001407682.1:c.3156_3157del
NM_001407683.1:c.3156_3157del
NM_001407684.1:c.3279_3280del
NM_001407685.1:c.3153_3154del
NM_001407686.1:c.3153_3154del
NM_001407687.1:c.3153_3154del
NM_001407688.1:c.3153_3154del
NM_001407689.1:c.3153_3154del
NM_001407690.1:c.3153_3154del
NM_001407691.1:c.3153_3154del
NM_001407692.1:c.3138_3139del
NM_001407694.1:c.3138_3139del
NM_001407695.1:c.3138_3139del
NM_001407696.1:c.3138_3139del
NM_001407697.1:c.3138_3139del
NM_001407698.1:c.3138_3139del
NM_001407724.1:c.3138_3139del
NM_001407725.1:c.3138_3139del
NM_001407726.1:c.3138_3139del
NM_001407727.1:c.3138_3139del
NM_001407728.1:c.3138_3139del
NM_001407729.1:c.3138_3139del
NM_001407730.1:c.3138_3139del
NM_001407731.1:c.3138_3139del
NM_001407732.1:c.3138_3139del
NM_001407733.1:c.3138_3139del
NM_001407734.1:c.3138_3139del
NM_001407735.1:c.3138_3139del
NM_001407736.1:c.3138_3139del
NM_001407737.1:c.3138_3139del
NM_001407738.1:c.3138_3139del
NM_001407739.1:c.3138_3139del
NM_001407740.1:c.3135_3136del
NM_001407741.1:c.3135_3136del
NM_001407742.1:c.3135_3136del
NM_001407743.1:c.3135_3136del
NM_001407744.1:c.3135_3136del
NM_001407745.1:c.3135_3136del
NM_001407746.1:c.3135_3136del
NM_001407747.1:c.3135_3136del
NM_001407748.1:c.3135_3136del
NM_001407749.1:c.3135_3136del
NM_001407750.1:c.3138_3139del
NM_001407751.1:c.3138_3139del
NM_001407752.1:c.3138_3139del
NM_001407838.1:c.3135_3136del
NM_001407839.1:c.3135_3136del
NM_001407841.1:c.3135_3136del
NM_001407842.1:c.3135_3136del
NM_001407843.1:c.3135_3136del
NM_001407844.1:c.3135_3136del
NM_001407845.1:c.3135_3136del
NM_001407846.1:c.3135_3136del
NM_001407847.1:c.3135_3136del
NM_001407848.1:c.3135_3136del
NM_001407849.1:c.3135_3136del
NM_001407850.1:c.3138_3139del
NM_001407851.1:c.3138_3139del
NM_001407852.1:c.3138_3139del
NM_001407853.1:c.3066_3067del
NM_001407854.1:c.3279_3280del
NM_001407858.1:c.3279_3280del
NM_001407859.1:c.3279_3280del
NM_001407860.1:c.3276_3277del
NM_001407861.1:c.3276_3277del
NM_001407862.1:c.3078_3079del
NM_001407863.1:c.3156_3157del
NM_001407874.1:c.3075_3076del
NM_001407875.1:c.3075_3076del
NM_001407879.1:c.3069_3070del
NM_001407881.1:c.3069_3070del
NM_001407882.1:c.3069_3070del
NM_001407884.1:c.3069_3070del
NM_001407885.1:c.3069_3070del
NM_001407886.1:c.3069_3070del
NM_001407887.1:c.3069_3070del
NM_001407889.1:c.3069_3070del
NM_001407894.1:c.3066_3067del
NM_001407895.1:c.3066_3067del
NM_001407896.1:c.3066_3067del
NM_001407897.1:c.3066_3067del
NM_001407898.1:c.3066_3067del
NM_001407899.1:c.3066_3067del
NM_001407900.1:c.3069_3070del
NM_001407902.1:c.3069_3070del
NM_001407904.1:c.3069_3070del
NM_001407906.1:c.3069_3070del
NM_001407907.1:c.3069_3070del
NM_001407908.1:c.3069_3070del
NM_001407909.1:c.3069_3070del
NM_001407910.1:c.3069_3070del
NM_001407915.1:c.3066_3067del
NM_001407916.1:c.3066_3067del
NM_001407917.1:c.3066_3067del
NM_001407918.1:c.3066_3067del
NM_001407919.1:c.3156_3157del
NM_001407920.1:c.3015_3016del
NM_001407921.1:c.3015_3016del
NM_001407922.1:c.3015_3016del
NM_001407923.1:c.3015_3016del
NM_001407924.1:c.3015_3016del
NM_001407925.1:c.3015_3016del
NM_001407926.1:c.3015_3016del
NM_001407927.1:c.3015_3016del
NM_001407928.1:c.3015_3016del
NM_001407929.1:c.3015_3016del
NM_001407930.1:c.3012_3013del
NM_001407931.1:c.3012_3013del
NM_001407932.1:c.3012_3013del
NM_001407933.1:c.3015_3016del
NM_001407934.1:c.3012_3013del
NM_001407935.1:c.3015_3016del
NM_001407936.1:c.3012_3013del
NM_001407937.1:c.3156_3157del
NM_001407938.1:c.3156_3157del
NM_001407939.1:c.3156_3157del
NM_001407940.1:c.3153_3154del
NM_001407941.1:c.3153_3154del
NM_001407942.1:c.3138_3139del
NM_001407943.1:c.3135_3136del
NM_001407944.1:c.3138_3139del
NM_001407945.1:c.3138_3139del
NM_001407946.1:c.2946_2947del
NM_001407947.1:c.2946_2947del
NM_001407948.1:c.2946_2947del
NM_001407949.1:c.2946_2947del
NM_001407950.1:c.2946_2947del
NM_001407951.1:c.2946_2947del
NM_001407952.1:c.2946_2947del
NM_001407953.1:c.2946_2947del
NM_001407954.1:c.2943_2944del
NM_001407955.1:c.2943_2944del
NM_001407956.1:c.2943_2944del
NM_001407957.1:c.2946_2947del
NM_001407958.1:c.2943_2944del
NM_001407959.1:c.2898_2899del
NM_001407960.1:c.2898_2899del
NM_001407962.1:c.2895_2896del
NM_001407963.1:c.2898_2899del
NM_001407964.1:c.3135_3136del
NM_001407965.1:c.2775_2776del
NM_001407966.1:c.2391_2392del
NM_001407967.1:c.2391_2392del
NM_001407968.1:c.788-113_788-112del
NM_001407969.1:c.788-113_788-112del
NM_001407970.1:c.788-1220_788-1219del
NM_001407971.1:c.788-1220_788-1219del
NM_001407972.1:c.785-1220_785-1219del
NM_001407973.1:c.788-1220_788-1219del
NM_001407974.1:c.788-1220_788-1219del
NM_001407975.1:c.788-1220_788-1219del
NM_001407976.1:c.788-1220_788-1219del
NM_001407977.1:c.788-1220_788-1219del
NM_001407978.1:c.788-1220_788-1219del
NM_001407979.1:c.788-1220_788-1219del
NM_001407980.1:c.788-1220_788-1219del
NM_001407981.1:c.788-1220_788-1219del
NM_001407982.1:c.788-1220_788-1219del
NM_001407983.1:c.788-1220_788-1219del
NM_001407984.1:c.785-1220_785-1219del
NM_001407985.1:c.785-1220_785-1219del
NM_001407986.1:c.785-1220_785-1219del
NM_001407990.1:c.788-1220_788-1219del
NM_001407991.1:c.785-1220_785-1219del
NM_001407992.1:c.785-1220_785-1219del
NM_001407993.1:c.788-1220_788-1219del
NM_001408392.1:c.785-1220_785-1219del
NM_001408396.1:c.785-1220_785-1219del
NM_001408397.1:c.785-1220_785-1219del
NM_001408398.1:c.785-1220_785-1219del
NM_001408399.1:c.785-1220_785-1219del
NM_001408400.1:c.785-1220_785-1219del
NM_001408401.1:c.785-1220_785-1219del
NM_001408402.1:c.785-1220_785-1219del
NM_001408403.1:c.788-1220_788-1219del
NM_001408404.1:c.788-1220_788-1219del
NM_001408406.1:c.791-1229_791-1228del
NM_001408407.1:c.785-1220_785-1219del
NM_001408408.1:c.779-1220_779-1219del
NM_001408409.1:c.710-1220_710-1219del
NM_001408410.1:c.647-1220_647-1219del
NM_001408411.1:c.710-1220_710-1219del
NM_001408412.1:c.710-1220_710-1219del
NM_001408413.1:c.707-1220_707-1219del
NM_001408414.1:c.710-1220_710-1219del
NM_001408415.1:c.710-1220_710-1219del
NM_001408416.1:c.707-1220_707-1219del
NM_001408418.1:c.671-1220_671-1219del
NM_001408419.1:c.671-1220_671-1219del
NM_001408420.1:c.671-1220_671-1219del
NM_001408421.1:c.668-1220_668-1219del
NM_001408422.1:c.671-1220_671-1219del
NM_001408423.1:c.671-1220_671-1219del
NM_001408424.1:c.668-1220_668-1219del
NM_001408425.1:c.665-1220_665-1219del
NM_001408426.1:c.665-1220_665-1219del
NM_001408427.1:c.665-1220_665-1219del
NM_001408428.1:c.665-1220_665-1219del
NM_001408429.1:c.665-1220_665-1219del
NM_001408430.1:c.665-1220_665-1219del
NM_001408431.1:c.668-1220_668-1219del
NM_001408432.1:c.662-1220_662-1219del
NM_001408433.1:c.662-1220_662-1219del
NM_001408434.1:c.662-1220_662-1219del
NM_001408435.1:c.662-1220_662-1219del
NM_001408436.1:c.665-1220_665-1219del
NM_001408437.1:c.665-1220_665-1219del
NM_001408438.1:c.665-1220_665-1219del
NM_001408439.1:c.665-1220_665-1219del
NM_001408440.1:c.665-1220_665-1219del
NM_001408441.1:c.665-1220_665-1219del
NM_001408442.1:c.665-1220_665-1219del
NM_001408443.1:c.665-1220_665-1219del
NM_001408444.1:c.665-1220_665-1219del
NM_001408445.1:c.662-1220_662-1219del
NM_001408446.1:c.662-1220_662-1219del
NM_001408447.1:c.662-1220_662-1219del
NM_001408448.1:c.662-1220_662-1219del
NM_001408450.1:c.662-1220_662-1219del
NM_001408451.1:c.653-1220_653-1219del
NM_001408452.1:c.647-1220_647-1219del
NM_001408453.1:c.647-1220_647-1219del
NM_001408454.1:c.647-1220_647-1219del
NM_001408455.1:c.647-1220_647-1219del
NM_001408456.1:c.647-1220_647-1219del
NM_001408457.1:c.647-1220_647-1219del
NM_001408458.1:c.647-1220_647-1219del
NM_001408459.1:c.647-1220_647-1219del
NM_001408460.1:c.647-1220_647-1219del
NM_001408461.1:c.647-1220_647-1219del
NM_001408462.1:c.644-1220_644-1219del
NM_001408463.1:c.644-1220_644-1219del
NM_001408464.1:c.644-1220_644-1219del
NM_001408465.1:c.644-1220_644-1219del
NM_001408466.1:c.647-1220_647-1219del
NM_001408467.1:c.647-1220_647-1219del
NM_001408468.1:c.644-1220_644-1219del
NM_001408469.1:c.647-1220_647-1219del
NM_001408470.1:c.644-1220_644-1219del
NM_001408472.1:c.788-1220_788-1219del
NM_001408473.1:c.785-1220_785-1219del
NM_001408474.1:c.587-1220_587-1219del
NM_001408475.1:c.584-1220_584-1219del
NM_001408476.1:c.587-1220_587-1219del
NM_001408478.1:c.578-1220_578-1219del
NM_001408479.1:c.578-1220_578-1219del
NM_001408480.1:c.578-1220_578-1219del
NM_001408481.1:c.578-1220_578-1219del
NM_001408482.1:c.578-1220_578-1219del
NM_001408483.1:c.578-1220_578-1219del
NM_001408484.1:c.578-1220_578-1219del
NM_001408485.1:c.578-1220_578-1219del
NM_001408489.1:c.578-1220_578-1219del
NM_001408490.1:c.575-1220_575-1219del
NM_001408491.1:c.575-1220_575-1219del
NM_001408492.1:c.578-1220_578-1219del
NM_001408493.1:c.575-1220_575-1219del
NM_001408494.1:c.548-1220_548-1219del
NM_001408495.1:c.545-1220_545-1219del
NM_001408496.1:c.524-1220_524-1219del
NM_001408497.1:c.524-1220_524-1219del
NM_001408498.1:c.524-1220_524-1219del
NM_001408499.1:c.524-1220_524-1219del
NM_001408500.1:c.524-1220_524-1219del
NM_001408501.1:c.524-1220_524-1219del
NM_001408502.1:c.455-1220_455-1219del
NM_001408503.1:c.521-1220_521-1219del
NM_001408504.1:c.521-1220_521-1219del
NM_001408505.1:c.521-1220_521-1219del
NM_001408506.1:c.461-1220_461-1219del
NM_001408507.1:c.461-1220_461-1219del
NM_001408508.1:c.452-1220_452-1219del
NM_001408509.1:c.452-1220_452-1219del
NM_001408510.1:c.407-1220_407-1219del
NM_001408511.1:c.404-1220_404-1219del
NM_001408512.1:c.284-1220_284-1219del
NM_001408513.1:c.578-1220_578-1219del
NM_001408514.1:c.578-1220_578-1219del
NM_007294.4:c.3279_3280delMANE SELECT
NM_007297.4:c.3138_3139del
NM_007298.4:c.788-1220_788-1219del
NM_007299.4:c.788-1220_788-1219del
NM_007300.4:c.3279_3280del
NP_001394500.1:p.Val1022_Tyr1023insTer
NP_001394510.1:p.Val1093_Tyr1094insTer
NP_001394511.1:p.Val1093_Tyr1094insTer
NP_001394512.1:p.Val1093_Tyr1094insTer
NP_001394514.1:p.Val1093_Tyr1094insTer
NP_001394516.1:p.Val1092_Tyr1093insTer
NP_001394519.1:p.Val1092_Tyr1093insTer
NP_001394520.1:p.Val1092_Tyr1093insTer
NP_001394522.1:p.Val1093_Tyr1094insTer
NP_001394523.1:p.Val1093_Tyr1094insTer
NP_001394525.1:p.Val1093_Tyr1094insTer
NP_001394526.1:p.Val1093_Tyr1094insTer
NP_001394527.1:p.Val1093_Tyr1094insTer
NP_001394531.1:p.Val1093_Tyr1094insTer
NP_001394532.1:p.Val1093_Tyr1094insTer
NP_001394534.1:p.Val1093_Tyr1094insTer
NP_001394539.1:p.Val1092_Tyr1093insTer
NP_001394540.1:p.Val1092_Tyr1093insTer
NP_001394541.1:p.Val1092_Tyr1093insTer
NP_001394542.1:p.Val1092_Tyr1093insTer
NP_001394543.1:p.Val1092_Tyr1093insTer
NP_001394544.1:p.Val1092_Tyr1093insTer
NP_001394545.1:p.Val1093_Tyr1094insTer
NP_001394546.1:p.Val1093_Tyr1094insTer
NP_001394547.1:p.Val1093_Tyr1094insTer
NP_001394548.1:p.Val1093_Tyr1094insTer
NP_001394549.1:p.Val1093_Tyr1094insTer
NP_001394550.1:p.Val1093_Tyr1094insTer
NP_001394551.1:p.Val1093_Tyr1094insTer
NP_001394552.1:p.Val1093_Tyr1094insTer
NP_001394553.1:p.Val1093_Tyr1094insTer
NP_001394554.1:p.Val1093_Tyr1094insTer
NP_001394555.1:p.Val1093_Tyr1094insTer
NP_001394556.1:p.Val1092_Tyr1093insTer
NP_001394557.1:p.Val1092_Tyr1093insTer
NP_001394558.1:p.Val1092_Tyr1093insTer
NP_001394559.1:p.Val1092_Tyr1093insTer
NP_001394560.1:p.Val1092_Tyr1093insTer
NP_001394561.1:p.Val1092_Tyr1093insTer
NP_001394562.1:p.Val1092_Tyr1093insTer
NP_001394563.1:p.Val1092_Tyr1093insTer
NP_001394564.1:p.Val1092_Tyr1093insTer
NP_001394565.1:p.Val1092_Tyr1093insTer
NP_001394566.1:p.Val1092_Tyr1093insTer
NP_001394567.1:p.Val1092_Tyr1093insTer
NP_001394568.1:p.Val1093_Tyr1094insTer
NP_001394569.1:p.Val1093_Tyr1094insTer
NP_001394570.1:p.Val1093_Tyr1094insTer
NP_001394571.1:p.Val1093_Tyr1094insTer
NP_001394573.1:p.Val1092_Tyr1093insTer
NP_001394574.1:p.Val1092_Tyr1093insTer
NP_001394575.1:p.Val1090_Tyr1091insTer
NP_001394576.1:p.Val1090_Tyr1091insTer
NP_001394577.1:p.Val1052_Tyr1053insTer
NP_001394578.1:p.Val1051_Tyr1052insTer
NP_001394581.1:p.Val1093_Tyr1094insTer
NP_001394582.1:p.Val1067_Tyr1068insTer
NP_001394583.1:p.Val1067_Tyr1068insTer
NP_001394584.1:p.Val1067_Tyr1068insTer
NP_001394585.1:p.Val1067_Tyr1068insTer
NP_001394586.1:p.Val1067_Tyr1068insTer
NP_001394587.1:p.Val1067_Tyr1068insTer
NP_001394588.1:p.Val1066_Tyr1067insTer
NP_001394589.1:p.Val1066_Tyr1067insTer
NP_001394590.1:p.Val1066_Tyr1067insTer
NP_001394591.1:p.Val1066_Tyr1067insTer
NP_001394592.1:p.Val1067_Tyr1068insTer
NP_001394593.1:p.Val1052_Tyr1053insTer
NP_001394594.1:p.Val1052_Tyr1053insTer
NP_001394595.1:p.Val1052_Tyr1053insTer
NP_001394596.1:p.Val1052_Tyr1053insTer
NP_001394597.1:p.Val1052_Tyr1053insTer
NP_001394598.1:p.Val1052_Tyr1053insTer
NP_001394599.1:p.Val1051_Tyr1052insTer
NP_001394600.1:p.Val1051_Tyr1052insTer
NP_001394601.1:p.Val1051_Tyr1052insTer
NP_001394602.1:p.Val1051_Tyr1052insTer
NP_001394603.1:p.Val1052_Tyr1053insTer
NP_001394604.1:p.Val1052_Tyr1053insTer
NP_001394605.1:p.Val1052_Tyr1053insTer
NP_001394606.1:p.Val1052_Tyr1053insTer
NP_001394607.1:p.Val1052_Tyr1053insTer
NP_001394608.1:p.Val1052_Tyr1053insTer
NP_001394609.1:p.Val1052_Tyr1053insTer
NP_001394610.1:p.Val1052_Tyr1053insTer
NP_001394611.1:p.Val1052_Tyr1053insTer
NP_001394612.1:p.Val1052_Tyr1053insTer
NP_001394613.1:p.Val1093_Tyr1094insTer
NP_001394614.1:p.Val1051_Tyr1052insTer
NP_001394615.1:p.Val1051_Tyr1052insTer
NP_001394616.1:p.Val1051_Tyr1052insTer
NP_001394617.1:p.Val1051_Tyr1052insTer
NP_001394618.1:p.Val1051_Tyr1052insTer
NP_001394619.1:p.Val1051_Tyr1052insTer
NP_001394620.1:p.Val1051_Tyr1052insTer
NP_001394621.1:p.Val1046_Tyr1047insTer
NP_001394623.1:p.Val1046_Tyr1047insTer
NP_001394624.1:p.Val1046_Tyr1047insTer
NP_001394625.1:p.Val1046_Tyr1047insTer
NP_001394626.1:p.Val1046_Tyr1047insTer
NP_001394627.1:p.Val1046_Tyr1047insTer
NP_001394653.1:p.Val1046_Tyr1047insTer
NP_001394654.1:p.Val1046_Tyr1047insTer
NP_001394655.1:p.Val1046_Tyr1047insTer
NP_001394656.1:p.Val1046_Tyr1047insTer
NP_001394657.1:p.Val1046_Tyr1047insTer
NP_001394658.1:p.Val1046_Tyr1047insTer
NP_001394659.1:p.Val1046_Tyr1047insTer
NP_001394660.1:p.Val1046_Tyr1047insTer
NP_001394661.1:p.Val1046_Tyr1047insTer
NP_001394662.1:p.Val1046_Tyr1047insTer
NP_001394663.1:p.Val1046_Tyr1047insTer
NP_001394664.1:p.Val1046_Tyr1047insTer
NP_001394665.1:p.Val1046_Tyr1047insTer
NP_001394666.1:p.Val1046_Tyr1047insTer
NP_001394667.1:p.Val1046_Tyr1047insTer
NP_001394668.1:p.Val1046_Tyr1047insTer
NP_001394669.1:p.Val1045_Tyr1046insTer
NP_001394670.1:p.Val1045_Tyr1046insTer
NP_001394671.1:p.Val1045_Tyr1046insTer
NP_001394672.1:p.Val1045_Tyr1046insTer
NP_001394673.1:p.Val1045_Tyr1046insTer
NP_001394674.1:p.Val1045_Tyr1046insTer
NP_001394675.1:p.Val1045_Tyr1046insTer
NP_001394676.1:p.Val1045_Tyr1046insTer
NP_001394677.1:p.Val1045_Tyr1046insTer
NP_001394678.1:p.Val1045_Tyr1046insTer
NP_001394679.1:p.Val1046_Tyr1047insTer
NP_001394680.1:p.Val1046_Tyr1047insTer
NP_001394681.1:p.Val1046_Tyr1047insTer
NP_001394767.1:p.Val1045_Tyr1046insTer
NP_001394768.1:p.Val1045_Tyr1046insTer
NP_001394770.1:p.Val1045_Tyr1046insTer
NP_001394771.1:p.Val1045_Tyr1046insTer
NP_001394772.1:p.Val1045_Tyr1046insTer
NP_001394773.1:p.Val1045_Tyr1046insTer
NP_001394774.1:p.Val1045_Tyr1046insTer
NP_001394775.1:p.Val1045_Tyr1046insTer
NP_001394776.1:p.Val1045_Tyr1046insTer
NP_001394777.1:p.Val1045_Tyr1046insTer
NP_001394778.1:p.Val1045_Tyr1046insTer
NP_001394779.1:p.Val1046_Tyr1047insTer
NP_001394780.1:p.Val1046_Tyr1047insTer
NP_001394781.1:p.Val1046_Tyr1047insTer
NP_001394782.1:p.Val1022_Tyr1023insTer
NP_001394783.1:p.Val1093_Tyr1094insTer
NP_001394787.1:p.Val1093_Tyr1094insTer
NP_001394788.1:p.Val1093_Tyr1094insTer
NP_001394789.1:p.Val1092_Tyr1093insTer
NP_001394790.1:p.Val1092_Tyr1093insTer
NP_001394791.1:p.Val1026_Tyr1027insTer
NP_001394792.1:p.Val1052_Tyr1053insTer
NP_001394803.1:p.Val1025_Tyr1026insTer
NP_001394804.1:p.Val1025_Tyr1026insTer
NP_001394808.1:p.Val1023_Tyr1024insTer
NP_001394810.1:p.Val1023_Tyr1024insTer
NP_001394811.1:p.Val1023_Tyr1024insTer
NP_001394813.1:p.Val1023_Tyr1024insTer
NP_001394814.1:p.Val1023_Tyr1024insTer
NP_001394815.1:p.Val1023_Tyr1024insTer
NP_001394816.1:p.Val1023_Tyr1024insTer
NP_001394818.1:p.Val1023_Tyr1024insTer
NP_001394823.1:p.Val1022_Tyr1023insTer
NP_001394824.1:p.Val1022_Tyr1023insTer
NP_001394825.1:p.Val1022_Tyr1023insTer
NP_001394826.1:p.Val1022_Tyr1023insTer
NP_001394827.1:p.Val1022_Tyr1023insTer
NP_001394828.1:p.Val1022_Tyr1023insTer
NP_001394829.1:p.Val1023_Tyr1024insTer
NP_001394831.1:p.Val1023_Tyr1024insTer
NP_001394833.1:p.Val1023_Tyr1024insTer
NP_001394835.1:p.Val1023_Tyr1024insTer
NP_001394836.1:p.Val1023_Tyr1024insTer
NP_001394837.1:p.Val1023_Tyr1024insTer
NP_001394838.1:p.Val1023_Tyr1024insTer
NP_001394839.1:p.Val1023_Tyr1024insTer
NP_001394844.1:p.Val1022_Tyr1023insTer
NP_001394845.1:p.Val1022_Tyr1023insTer
NP_001394846.1:p.Val1022_Tyr1023insTer
NP_001394847.1:p.Val1022_Tyr1023insTer
NP_001394848.1:p.Val1052_Tyr1053insTer
NP_001394849.1:p.Val1005_Tyr1006insTer
NP_001394850.1:p.Val1005_Tyr1006insTer
NP_001394851.1:p.Val1005_Tyr1006insTer
NP_001394852.1:p.Val1005_Tyr1006insTer
NP_001394853.1:p.Val1005_Tyr1006insTer
NP_001394854.1:p.Val1005_Tyr1006insTer
NP_001394855.1:p.Val1005_Tyr1006insTer
NP_001394856.1:p.Val1005_Tyr1006insTer
NP_001394857.1:p.Val1005_Tyr1006insTer
NP_001394858.1:p.Val1005_Tyr1006insTer
NP_001394859.1:p.Val1004_Tyr1005insTer
NP_001394860.1:p.Val1004_Tyr1005insTer
NP_001394861.1:p.Val1004_Tyr1005insTer
NP_001394862.1:p.Val1005_Tyr1006insTer
NP_001394863.1:p.Val1004_Tyr1005insTer
NP_001394864.1:p.Val1005_Tyr1006insTer
NP_001394865.1:p.Val1004_Tyr1005insTer
NP_001394866.1:p.Val1052_Tyr1053insTer
NP_001394867.1:p.Val1052_Tyr1053insTer
NP_001394868.1:p.Val1052_Tyr1053insTer
NP_001394869.1:p.Val1051_Tyr1052insTer
NP_001394870.1:p.Val1051_Tyr1052insTer
NP_001394871.1:p.Val1046_Tyr1047insTer
NP_001394872.1:p.Val1045_Tyr1046insTer
NP_001394873.1:p.Val1046_Tyr1047insTer
NP_001394874.1:p.Val1046_Tyr1047insTer
NP_001394875.1:p.Val982_Tyr983insTer
NP_001394876.1:p.Val982_Tyr983insTer
NP_001394877.1:p.Val982_Tyr983insTer
NP_001394878.1:p.Val982_Tyr983insTer
NP_001394879.1:p.Val982_Tyr983insTer
NP_001394880.1:p.Val982_Tyr983insTer
NP_001394881.1:p.Val982_Tyr983insTer
NP_001394882.1:p.Val982_Tyr983insTer
NP_001394883.1:p.Val981_Tyr982insTer
NP_001394884.1:p.Val981_Tyr982insTer
NP_001394885.1:p.Val981_Tyr982insTer
NP_001394886.1:p.Val982_Tyr983insTer
NP_001394887.1:p.Val981_Tyr982insTer
NP_001394888.1:p.Val966_Tyr967insTer
NP_001394889.1:p.Val966_Tyr967insTer
NP_001394891.1:p.Val965_Tyr966insTer
NP_001394892.1:p.Val966_Tyr967insTer
NP_001394893.1:p.Val1045_Tyr1046insTer
NP_001394894.1:p.Val925_Tyr926insTer
NP_001394895.1:p.Val797_Tyr798insTer
NP_001394896.1:p.Val797_Tyr798insTer
NP_009225.1:p.Tyr1094Terfs
NP_009225.1:p.Val1093_Tyr1094insTer
NP_009228.2:p.Val1046_Tyr1047insTer
NP_009231.2:p.Val1093_Tyr1094insTer
LRG_292t1:c.3278_3279del
LRG_292:g.125732_125733del
LRG_292p1:p.Tyr1094Terfs
NC_000017.10:g.41244268_41244269del
NC_000017.10:g.41244269_41244270del
NM_007294.3:c.3278_3279delTC
NM_007294.3:c.3279_3280delCT
NR_027676.1:n.3414_3415delTC

Links:

dbSNP: rs886038010

NCBI 1000 Genomes Browser:

rs886038010

Molecular consequence:

NM_001407571.1:c.3066_3067del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407581.1:c.3279_3280del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407582.1:c.3279_3280del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407583.1:c.3279_3280del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407585.1:c.3279_3280del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407587.1:c.3276_3277del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407590.1:c.3276_3277del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407591.1:c.3276_3277del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407593.1:c.3279_3280del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407594.1:c.3279_3280del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407596.1:c.3279_3280del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407597.1:c.3279_3280del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407598.1:c.3279_3280del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407602.1:c.3279_3280del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407603.1:c.3279_3280del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407605.1:c.3279_3280del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407610.1:c.3276_3277del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407611.1:c.3276_3277del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407612.1:c.3276_3277del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407613.1:c.3276_3277del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407614.1:c.3276_3277del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407615.1:c.3276_3277del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407616.1:c.3279_3280del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407617.1:c.3279_3280del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407618.1:c.3279_3280del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407619.1:c.3279_3280del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407620.1:c.3279_3280del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407621.1:c.3279_3280del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407622.1:c.3279_3280del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407623.1:c.3279_3280del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407624.1:c.3279_3280del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407625.1:c.3279_3280del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407626.1:c.3279_3280del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407627.1:c.3276_3277del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407628.1:c.3276_3277del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407629.1:c.3276_3277del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407630.1:c.3276_3277del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407631.1:c.3276_3277del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407632.1:c.3276_3277del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407633.1:c.3276_3277del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407634.1:c.3276_3277del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407635.1:c.3276_3277del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407636.1:c.3276_3277del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407637.1:c.3276_3277del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407638.1:c.3276_3277del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407639.1:c.3279_3280del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407640.1:c.3279_3280del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407641.1:c.3279_3280del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407642.1:c.3279_3280del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407644.1:c.3276_3277del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407645.1:c.3276_3277del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407646.1:c.3270_3271del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407647.1:c.3270_3271del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407648.1:c.3156_3157del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407649.1:c.3153_3154del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407652.1:c.3279_3280del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407653.1:c.3201_3202del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407654.1:c.3201_3202del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407655.1:c.3201_3202del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407656.1:c.3201_3202del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407657.1:c.3201_3202del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407658.1:c.3201_3202del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407659.1:c.3198_3199del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407660.1:c.3198_3199del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407661.1:c.3198_3199del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407662.1:c.3198_3199del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407663.1:c.3201_3202del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407664.1:c.3156_3157del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407665.1:c.3156_3157del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407666.1:c.3156_3157del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407667.1:c.3156_3157del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407668.1:c.3156_3157del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407669.1:c.3156_3157del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407670.1:c.3153_3154del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407671.1:c.3153_3154del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407672.1:c.3153_3154del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407673.1:c.3153_3154del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407674.1:c.3156_3157del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407675.1:c.3156_3157del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407676.1:c.3156_3157del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407677.1:c.3156_3157del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407678.1:c.3156_3157del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407679.1:c.3156_3157del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407680.1:c.3156_3157del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407681.1:c.3156_3157del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407682.1:c.3156_3157del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407683.1:c.3156_3157del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407684.1:c.3279_3280del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407685.1:c.3153_3154del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407686.1:c.3153_3154del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407687.1:c.3153_3154del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407688.1:c.3153_3154del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407689.1:c.3153_3154del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407690.1:c.3153_3154del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407691.1:c.3153_3154del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407692.1:c.3138_3139del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407694.1:c.3138_3139del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407695.1:c.3138_3139del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407696.1:c.3138_3139del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407697.1:c.3138_3139del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407698.1:c.3138_3139del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407724.1:c.3138_3139del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407725.1:c.3138_3139del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407726.1:c.3138_3139del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407727.1:c.3138_3139del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407728.1:c.3138_3139del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407729.1:c.3138_3139del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407730.1:c.3138_3139del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407731.1:c.3138_3139del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407732.1:c.3138_3139del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407733.1:c.3138_3139del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407734.1:c.3138_3139del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407735.1:c.3138_3139del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407736.1:c.3138_3139del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407737.1:c.3138_3139del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407738.1:c.3138_3139del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407739.1:c.3138_3139del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407740.1:c.3135_3136del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407741.1:c.3135_3136del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407742.1:c.3135_3136del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407743.1:c.3135_3136del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407744.1:c.3135_3136del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407745.1:c.3135_3136del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407746.1:c.3135_3136del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407747.1:c.3135_3136del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407748.1:c.3135_3136del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407749.1:c.3135_3136del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407750.1:c.3138_3139del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407751.1:c.3138_3139del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407752.1:c.3138_3139del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407838.1:c.3135_3136del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407839.1:c.3135_3136del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407841.1:c.3135_3136del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407842.1:c.3135_3136del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407843.1:c.3135_3136del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407844.1:c.3135_3136del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407845.1:c.3135_3136del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407846.1:c.3135_3136del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407847.1:c.3135_3136del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407848.1:c.3135_3136del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407849.1:c.3135_3136del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407850.1:c.3138_3139del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407851.1:c.3138_3139del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407852.1:c.3138_3139del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407853.1:c.3066_3067del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407854.1:c.3279_3280del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407858.1:c.3279_3280del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407859.1:c.3279_3280del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407860.1:c.3276_3277del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407861.1:c.3276_3277del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407862.1:c.3078_3079del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407863.1:c.3156_3157del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407874.1:c.3075_3076del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407875.1:c.3075_3076del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407879.1:c.3069_3070del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407881.1:c.3069_3070del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407882.1:c.3069_3070del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407884.1:c.3069_3070del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407885.1:c.3069_3070del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407886.1:c.3069_3070del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407887.1:c.3069_3070del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407889.1:c.3069_3070del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407894.1:c.3066_3067del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407895.1:c.3066_3067del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407896.1:c.3066_3067del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407897.1:c.3066_3067del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407898.1:c.3066_3067del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407899.1:c.3066_3067del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407900.1:c.3069_3070del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407902.1:c.3069_3070del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407904.1:c.3069_3070del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407906.1:c.3069_3070del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407907.1:c.3069_3070del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407908.1:c.3069_3070del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407909.1:c.3069_3070del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407910.1:c.3069_3070del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407915.1:c.3066_3067del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407916.1:c.3066_3067del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407917.1:c.3066_3067del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407918.1:c.3066_3067del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407919.1:c.3156_3157del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407920.1:c.3015_3016del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407921.1:c.3015_3016del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407922.1:c.3015_3016del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407923.1:c.3015_3016del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407924.1:c.3015_3016del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407925.1:c.3015_3016del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407926.1:c.3015_3016del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407927.1:c.3015_3016del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407928.1:c.3015_3016del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407929.1:c.3015_3016del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407930.1:c.3012_3013del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407931.1:c.3012_3013del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407932.1:c.3012_3013del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407933.1:c.3015_3016del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407934.1:c.3012_3013del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407935.1:c.3015_3016del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407936.1:c.3012_3013del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407937.1:c.3156_3157del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407938.1:c.3156_3157del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407939.1:c.3156_3157del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407940.1:c.3153_3154del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407941.1:c.3153_3154del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407942.1:c.3138_3139del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407943.1:c.3135_3136del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407944.1:c.3138_3139del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407945.1:c.3138_3139del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407946.1:c.2946_2947del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407947.1:c.2946_2947del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407948.1:c.2946_2947del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407949.1:c.2946_2947del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407950.1:c.2946_2947del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407951.1:c.2946_2947del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407952.1:c.2946_2947del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407953.1:c.2946_2947del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407954.1:c.2943_2944del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407955.1:c.2943_2944del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407956.1:c.2943_2944del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407957.1:c.2946_2947del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407958.1:c.2943_2944del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407959.1:c.2898_2899del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407960.1:c.2898_2899del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407962.1:c.2895_2896del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407963.1:c.2898_2899del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407964.1:c.3135_3136del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407965.1:c.2775_2776del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407966.1:c.2391_2392del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407967.1:c.2391_2392del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007294.4:c.3279_3280del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007297.4:c.3138_3139del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007300.4:c.3279_3280del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407968.1:c.788-113_788-112del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.788-113_788-112del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.788-1220_788-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.788-1220_788-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.785-1220_785-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.788-1220_788-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.788-1220_788-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.788-1220_788-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.788-1220_788-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.788-1220_788-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.788-1220_788-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.788-1220_788-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.788-1220_788-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.788-1220_788-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.788-1220_788-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.788-1220_788-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.785-1220_785-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.785-1220_785-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.785-1220_785-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.788-1220_788-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.785-1220_785-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.785-1220_785-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.788-1220_788-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.785-1220_785-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.785-1220_785-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.785-1220_785-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.785-1220_785-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.785-1220_785-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.785-1220_785-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.785-1220_785-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.785-1220_785-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.788-1220_788-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.788-1220_788-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.791-1229_791-1228del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.785-1220_785-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.779-1220_779-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.710-1220_710-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.647-1220_647-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.710-1220_710-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.710-1220_710-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.707-1220_707-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.710-1220_710-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.710-1220_710-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.707-1220_707-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.671-1220_671-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.671-1220_671-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.671-1220_671-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.668-1220_668-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.671-1220_671-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.671-1220_671-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.668-1220_668-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.665-1220_665-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.665-1220_665-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.665-1220_665-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.665-1220_665-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.665-1220_665-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.665-1220_665-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.668-1220_668-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.662-1220_662-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.662-1220_662-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.662-1220_662-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.662-1220_662-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.665-1220_665-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.665-1220_665-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.665-1220_665-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.665-1220_665-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.665-1220_665-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.665-1220_665-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.665-1220_665-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.665-1220_665-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.665-1220_665-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.662-1220_662-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.662-1220_662-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.662-1220_662-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.662-1220_662-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.662-1220_662-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.653-1220_653-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.647-1220_647-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.647-1220_647-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.647-1220_647-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.647-1220_647-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.647-1220_647-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.647-1220_647-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.647-1220_647-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.647-1220_647-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.647-1220_647-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.647-1220_647-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.644-1220_644-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.644-1220_644-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.644-1220_644-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.644-1220_644-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.647-1220_647-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.647-1220_647-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.644-1220_644-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.647-1220_647-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.644-1220_644-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.788-1220_788-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.785-1220_785-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.587-1220_587-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.584-1220_584-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.587-1220_587-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.578-1220_578-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.578-1220_578-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.578-1220_578-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.578-1220_578-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.578-1220_578-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.578-1220_578-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.578-1220_578-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.578-1220_578-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.578-1220_578-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.575-1220_575-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.575-1220_575-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.578-1220_578-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.575-1220_575-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-1220_548-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-1220_545-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.524-1220_524-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.524-1220_524-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.524-1220_524-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.524-1220_524-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.524-1220_524-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.524-1220_524-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.455-1220_455-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.521-1220_521-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.521-1220_521-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.521-1220_521-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.461-1220_461-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.461-1220_461-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.452-1220_452-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.452-1220_452-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.407-1220_407-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-1220_404-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.284-1220_284-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.578-1220_578-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.578-1220_578-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.788-1220_788-1219del - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.788-1220_788-1219del - intron variant - [Sequence Ontology: SO:0001627]

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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PREDICTED: Carassius gibelio secreted frizzled-related protein 1-like (LOC127966...
PREDICTED: Carassius gibelio secreted frizzled-related protein 1-like (LOC127966345), mRNA
gi|2396889811|ref|XM_052567259.1|

Nucleotide
Stelis carnosilabia isolate DB730b internal transcribed spacer 1, partial sequen...
Stelis carnosilabia isolate DB730b internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene, complete sequence; and internal transcribed spacer 2, partial sequence
gi|342220749|gb|JF934808.1|

Nucleotide
Stelis papillifera isolate DB7186 internal transcribed spacer 1, partial sequenc...
Stelis papillifera isolate DB7186 internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene, complete sequence; and internal transcribed spacer 2, partial sequence
gi|342220753|gb|JF934812.1|

Nucleotide
Pleurothallis ruscifolia isolate FP7254a internal transcribed spacer 1, partial ...
Pleurothallis ruscifolia isolate FP7254a internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene, complete sequence; and internal transcribed spacer 2, partial sequence
gi|342220754|gb|JF934813.1|

Nucleotide
LOC127819779 [Homo sapiens]
LOC127819779 [Homo sapiens]
Gene ID:127819779

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000299906	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

SCV000299906

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

Details of each submission

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000299906.2

#	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: Oct 8, 2024

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