NM_007294.4(BRCA1):c.3327_3329del (p.Lys1110del) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Jan 17, 2017
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000112064.10

Allele description [Variation Report for NM_007294.4(BRCA1):c.3327_3329del (p.Lys1110del)]

NM_007294.4(BRCA1):c.3327_3329del (p.Lys1110del)

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.3327_3329del (p.Lys1110del)

Other names:

K1109del; p.Lys1110del

HGVS:

NC_000017.10:g.41244219_41244221del
NC_000017.11:g.43092205_43092207del
NG_005905.2:g.125780_125782del
NG_087068.1:g.1187_1189del
NM_001407571.1:c.3114_3116del
NM_001407581.1:c.3327_3329del
NM_001407582.1:c.3327_3329del
NM_001407583.1:c.3327_3329del
NM_001407585.1:c.3327_3329del
NM_001407587.1:c.3324_3326del
NM_001407590.1:c.3324_3326del
NM_001407591.1:c.3324_3326del
NM_001407593.1:c.3327_3329del
NM_001407594.1:c.3327_3329del
NM_001407596.1:c.3327_3329del
NM_001407597.1:c.3327_3329del
NM_001407598.1:c.3327_3329del
NM_001407602.1:c.3327_3329del
NM_001407603.1:c.3327_3329del
NM_001407605.1:c.3327_3329del
NM_001407610.1:c.3324_3326del
NM_001407611.1:c.3324_3326del
NM_001407612.1:c.3324_3326del
NM_001407613.1:c.3324_3326del
NM_001407614.1:c.3324_3326del
NM_001407615.1:c.3324_3326del
NM_001407616.1:c.3327_3329del
NM_001407617.1:c.3327_3329del
NM_001407618.1:c.3327_3329del
NM_001407619.1:c.3327_3329del
NM_001407620.1:c.3327_3329del
NM_001407621.1:c.3327_3329del
NM_001407622.1:c.3327_3329del
NM_001407623.1:c.3327_3329del
NM_001407624.1:c.3327_3329del
NM_001407625.1:c.3327_3329del
NM_001407626.1:c.3327_3329del
NM_001407627.1:c.3324_3326del
NM_001407628.1:c.3324_3326del
NM_001407629.1:c.3324_3326del
NM_001407630.1:c.3324_3326del
NM_001407631.1:c.3324_3326del
NM_001407632.1:c.3324_3326del
NM_001407633.1:c.3324_3326del
NM_001407634.1:c.3324_3326del
NM_001407635.1:c.3324_3326del
NM_001407636.1:c.3324_3326del
NM_001407637.1:c.3324_3326del
NM_001407638.1:c.3324_3326del
NM_001407639.1:c.3327_3329del
NM_001407640.1:c.3327_3329del
NM_001407641.1:c.3327_3329del
NM_001407642.1:c.3327_3329del
NM_001407644.1:c.3324_3326del
NM_001407645.1:c.3324_3326del
NM_001407646.1:c.3318_3320del
NM_001407647.1:c.3318_3320del
NM_001407648.1:c.3204_3206del
NM_001407649.1:c.3201_3203del
NM_001407652.1:c.3327_3329del
NM_001407653.1:c.3249_3251del
NM_001407654.1:c.3249_3251del
NM_001407655.1:c.3249_3251del
NM_001407656.1:c.3249_3251del
NM_001407657.1:c.3249_3251del
NM_001407658.1:c.3249_3251del
NM_001407659.1:c.3246_3248del
NM_001407660.1:c.3246_3248del
NM_001407661.1:c.3246_3248del
NM_001407662.1:c.3246_3248del
NM_001407663.1:c.3249_3251del
NM_001407664.1:c.3204_3206del
NM_001407665.1:c.3204_3206del
NM_001407666.1:c.3204_3206del
NM_001407667.1:c.3204_3206del
NM_001407668.1:c.3204_3206del
NM_001407669.1:c.3204_3206del
NM_001407670.1:c.3201_3203del
NM_001407671.1:c.3201_3203del
NM_001407672.1:c.3201_3203del
NM_001407673.1:c.3201_3203del
NM_001407674.1:c.3204_3206del
NM_001407675.1:c.3204_3206del
NM_001407676.1:c.3204_3206del
NM_001407677.1:c.3204_3206del
NM_001407678.1:c.3204_3206del
NM_001407679.1:c.3204_3206del
NM_001407680.1:c.3204_3206del
NM_001407681.1:c.3204_3206del
NM_001407682.1:c.3204_3206del
NM_001407683.1:c.3204_3206del
NM_001407684.1:c.3327_3329del
NM_001407685.1:c.3201_3203del
NM_001407686.1:c.3201_3203del
NM_001407687.1:c.3201_3203del
NM_001407688.1:c.3201_3203del
NM_001407689.1:c.3201_3203del
NM_001407690.1:c.3201_3203del
NM_001407691.1:c.3201_3203del
NM_001407692.1:c.3186_3188del
NM_001407694.1:c.3186_3188del
NM_001407695.1:c.3186_3188del
NM_001407696.1:c.3186_3188del
NM_001407697.1:c.3186_3188del
NM_001407698.1:c.3186_3188del
NM_001407724.1:c.3186_3188del
NM_001407725.1:c.3186_3188del
NM_001407726.1:c.3186_3188del
NM_001407727.1:c.3186_3188del
NM_001407728.1:c.3186_3188del
NM_001407729.1:c.3186_3188del
NM_001407730.1:c.3186_3188del
NM_001407731.1:c.3186_3188del
NM_001407732.1:c.3186_3188del
NM_001407733.1:c.3186_3188del
NM_001407734.1:c.3186_3188del
NM_001407735.1:c.3186_3188del
NM_001407736.1:c.3186_3188del
NM_001407737.1:c.3186_3188del
NM_001407738.1:c.3186_3188del
NM_001407739.1:c.3186_3188del
NM_001407740.1:c.3183_3185del
NM_001407741.1:c.3183_3185del
NM_001407742.1:c.3183_3185del
NM_001407743.1:c.3183_3185del
NM_001407744.1:c.3183_3185del
NM_001407745.1:c.3183_3185del
NM_001407746.1:c.3183_3185del
NM_001407747.1:c.3183_3185del
NM_001407748.1:c.3183_3185del
NM_001407749.1:c.3183_3185del
NM_001407750.1:c.3186_3188del
NM_001407751.1:c.3186_3188del
NM_001407752.1:c.3186_3188del
NM_001407838.1:c.3183_3185del
NM_001407839.1:c.3183_3185del
NM_001407841.1:c.3183_3185del
NM_001407842.1:c.3183_3185del
NM_001407843.1:c.3183_3185del
NM_001407844.1:c.3183_3185del
NM_001407845.1:c.3183_3185del
NM_001407846.1:c.3183_3185del
NM_001407847.1:c.3183_3185del
NM_001407848.1:c.3183_3185del
NM_001407849.1:c.3183_3185del
NM_001407850.1:c.3186_3188del
NM_001407851.1:c.3186_3188del
NM_001407852.1:c.3186_3188del
NM_001407853.1:c.3114_3116del
NM_001407854.1:c.3327_3329del
NM_001407858.1:c.3327_3329del
NM_001407859.1:c.3327_3329del
NM_001407860.1:c.3324_3326del
NM_001407861.1:c.3324_3326del
NM_001407862.1:c.3126_3128del
NM_001407863.1:c.3204_3206del
NM_001407874.1:c.3123_3125del
NM_001407875.1:c.3123_3125del
NM_001407879.1:c.3117_3119del
NM_001407881.1:c.3117_3119del
NM_001407882.1:c.3117_3119del
NM_001407884.1:c.3117_3119del
NM_001407885.1:c.3117_3119del
NM_001407886.1:c.3117_3119del
NM_001407887.1:c.3117_3119del
NM_001407889.1:c.3117_3119del
NM_001407894.1:c.3114_3116del
NM_001407895.1:c.3114_3116del
NM_001407896.1:c.3114_3116del
NM_001407897.1:c.3114_3116del
NM_001407898.1:c.3114_3116del
NM_001407899.1:c.3114_3116del
NM_001407900.1:c.3117_3119del
NM_001407902.1:c.3117_3119del
NM_001407904.1:c.3117_3119del
NM_001407906.1:c.3117_3119del
NM_001407907.1:c.3117_3119del
NM_001407908.1:c.3117_3119del
NM_001407909.1:c.3117_3119del
NM_001407910.1:c.3117_3119del
NM_001407915.1:c.3114_3116del
NM_001407916.1:c.3114_3116del
NM_001407917.1:c.3114_3116del
NM_001407918.1:c.3114_3116del
NM_001407919.1:c.3204_3206del
NM_001407920.1:c.3063_3065del
NM_001407921.1:c.3063_3065del
NM_001407922.1:c.3063_3065del
NM_001407923.1:c.3063_3065del
NM_001407924.1:c.3063_3065del
NM_001407925.1:c.3063_3065del
NM_001407926.1:c.3063_3065del
NM_001407927.1:c.3063_3065del
NM_001407928.1:c.3063_3065del
NM_001407929.1:c.3063_3065del
NM_001407930.1:c.3060_3062del
NM_001407931.1:c.3060_3062del
NM_001407932.1:c.3060_3062del
NM_001407933.1:c.3063_3065del
NM_001407934.1:c.3060_3062del
NM_001407935.1:c.3063_3065del
NM_001407936.1:c.3060_3062del
NM_001407937.1:c.3204_3206del
NM_001407938.1:c.3204_3206del
NM_001407939.1:c.3204_3206del
NM_001407940.1:c.3201_3203del
NM_001407941.1:c.3201_3203del
NM_001407942.1:c.3186_3188del
NM_001407943.1:c.3183_3185del
NM_001407944.1:c.3186_3188del
NM_001407945.1:c.3186_3188del
NM_001407946.1:c.2994_2996del
NM_001407947.1:c.2994_2996del
NM_001407948.1:c.2994_2996del
NM_001407949.1:c.2994_2996del
NM_001407950.1:c.2994_2996del
NM_001407951.1:c.2994_2996del
NM_001407952.1:c.2994_2996del
NM_001407953.1:c.2994_2996del
NM_001407954.1:c.2991_2993del
NM_001407955.1:c.2991_2993del
NM_001407956.1:c.2991_2993del
NM_001407957.1:c.2994_2996del
NM_001407958.1:c.2991_2993del
NM_001407959.1:c.2946_2948del
NM_001407960.1:c.2946_2948del
NM_001407962.1:c.2943_2945del
NM_001407963.1:c.2946_2948del
NM_001407964.1:c.3183_3185del
NM_001407965.1:c.2823_2825del
NM_001407966.1:c.2439_2441del
NM_001407967.1:c.2439_2441del
NM_001407968.1:c.788-65_788-63del
NM_001407969.1:c.788-65_788-63del
NM_001407970.1:c.788-1172_788-1170del
NM_001407971.1:c.788-1172_788-1170del
NM_001407972.1:c.785-1172_785-1170del
NM_001407973.1:c.788-1172_788-1170del
NM_001407974.1:c.788-1172_788-1170del
NM_001407975.1:c.788-1172_788-1170del
NM_001407976.1:c.788-1172_788-1170del
NM_001407977.1:c.788-1172_788-1170del
NM_001407978.1:c.788-1172_788-1170del
NM_001407979.1:c.788-1172_788-1170del
NM_001407980.1:c.788-1172_788-1170del
NM_001407981.1:c.788-1172_788-1170del
NM_001407982.1:c.788-1172_788-1170del
NM_001407983.1:c.788-1172_788-1170del
NM_001407984.1:c.785-1172_785-1170del
NM_001407985.1:c.785-1172_785-1170del
NM_001407986.1:c.785-1172_785-1170del
NM_001407990.1:c.788-1172_788-1170del
NM_001407991.1:c.785-1172_785-1170del
NM_001407992.1:c.785-1172_785-1170del
NM_001407993.1:c.788-1172_788-1170del
NM_001408392.1:c.785-1172_785-1170del
NM_001408396.1:c.785-1172_785-1170del
NM_001408397.1:c.785-1172_785-1170del
NM_001408398.1:c.785-1172_785-1170del
NM_001408399.1:c.785-1172_785-1170del
NM_001408400.1:c.785-1172_785-1170del
NM_001408401.1:c.785-1172_785-1170del
NM_001408402.1:c.785-1172_785-1170del
NM_001408403.1:c.788-1172_788-1170del
NM_001408404.1:c.788-1172_788-1170del
NM_001408406.1:c.791-1181_791-1179del
NM_001408407.1:c.785-1172_785-1170del
NM_001408408.1:c.779-1172_779-1170del
NM_001408409.1:c.710-1172_710-1170del
NM_001408410.1:c.647-1172_647-1170del
NM_001408411.1:c.710-1172_710-1170del
NM_001408412.1:c.710-1172_710-1170del
NM_001408413.1:c.707-1172_707-1170del
NM_001408414.1:c.710-1172_710-1170del
NM_001408415.1:c.710-1172_710-1170del
NM_001408416.1:c.707-1172_707-1170del
NM_001408418.1:c.671-1172_671-1170del
NM_001408419.1:c.671-1172_671-1170del
NM_001408420.1:c.671-1172_671-1170del
NM_001408421.1:c.668-1172_668-1170del
NM_001408422.1:c.671-1172_671-1170del
NM_001408423.1:c.671-1172_671-1170del
NM_001408424.1:c.668-1172_668-1170del
NM_001408425.1:c.665-1172_665-1170del
NM_001408426.1:c.665-1172_665-1170del
NM_001408427.1:c.665-1172_665-1170del
NM_001408428.1:c.665-1172_665-1170del
NM_001408429.1:c.665-1172_665-1170del
NM_001408430.1:c.665-1172_665-1170del
NM_001408431.1:c.668-1172_668-1170del
NM_001408432.1:c.662-1172_662-1170del
NM_001408433.1:c.662-1172_662-1170del
NM_001408434.1:c.662-1172_662-1170del
NM_001408435.1:c.662-1172_662-1170del
NM_001408436.1:c.665-1172_665-1170del
NM_001408437.1:c.665-1172_665-1170del
NM_001408438.1:c.665-1172_665-1170del
NM_001408439.1:c.665-1172_665-1170del
NM_001408440.1:c.665-1172_665-1170del
NM_001408441.1:c.665-1172_665-1170del
NM_001408442.1:c.665-1172_665-1170del
NM_001408443.1:c.665-1172_665-1170del
NM_001408444.1:c.665-1172_665-1170del
NM_001408445.1:c.662-1172_662-1170del
NM_001408446.1:c.662-1172_662-1170del
NM_001408447.1:c.662-1172_662-1170del
NM_001408448.1:c.662-1172_662-1170del
NM_001408450.1:c.662-1172_662-1170del
NM_001408451.1:c.653-1172_653-1170del
NM_001408452.1:c.647-1172_647-1170del
NM_001408453.1:c.647-1172_647-1170del
NM_001408454.1:c.647-1172_647-1170del
NM_001408455.1:c.647-1172_647-1170del
NM_001408456.1:c.647-1172_647-1170del
NM_001408457.1:c.647-1172_647-1170del
NM_001408458.1:c.647-1172_647-1170del
NM_001408459.1:c.647-1172_647-1170del
NM_001408460.1:c.647-1172_647-1170del
NM_001408461.1:c.647-1172_647-1170del
NM_001408462.1:c.644-1172_644-1170del
NM_001408463.1:c.644-1172_644-1170del
NM_001408464.1:c.644-1172_644-1170del
NM_001408465.1:c.644-1172_644-1170del
NM_001408466.1:c.647-1172_647-1170del
NM_001408467.1:c.647-1172_647-1170del
NM_001408468.1:c.644-1172_644-1170del
NM_001408469.1:c.647-1172_647-1170del
NM_001408470.1:c.644-1172_644-1170del
NM_001408472.1:c.788-1172_788-1170del
NM_001408473.1:c.785-1172_785-1170del
NM_001408474.1:c.587-1172_587-1170del
NM_001408475.1:c.584-1172_584-1170del
NM_001408476.1:c.587-1172_587-1170del
NM_001408478.1:c.578-1172_578-1170del
NM_001408479.1:c.578-1172_578-1170del
NM_001408480.1:c.578-1172_578-1170del
NM_001408481.1:c.578-1172_578-1170del
NM_001408482.1:c.578-1172_578-1170del
NM_001408483.1:c.578-1172_578-1170del
NM_001408484.1:c.578-1172_578-1170del
NM_001408485.1:c.578-1172_578-1170del
NM_001408489.1:c.578-1172_578-1170del
NM_001408490.1:c.575-1172_575-1170del
NM_001408491.1:c.575-1172_575-1170del
NM_001408492.1:c.578-1172_578-1170del
NM_001408493.1:c.575-1172_575-1170del
NM_001408494.1:c.548-1172_548-1170del
NM_001408495.1:c.545-1172_545-1170del
NM_001408496.1:c.524-1172_524-1170del
NM_001408497.1:c.524-1172_524-1170del
NM_001408498.1:c.524-1172_524-1170del
NM_001408499.1:c.524-1172_524-1170del
NM_001408500.1:c.524-1172_524-1170del
NM_001408501.1:c.524-1172_524-1170del
NM_001408502.1:c.455-1172_455-1170del
NM_001408503.1:c.521-1172_521-1170del
NM_001408504.1:c.521-1172_521-1170del
NM_001408505.1:c.521-1172_521-1170del
NM_001408506.1:c.461-1172_461-1170del
NM_001408507.1:c.461-1172_461-1170del
NM_001408508.1:c.452-1172_452-1170del
NM_001408509.1:c.452-1172_452-1170del
NM_001408510.1:c.407-1172_407-1170del
NM_001408511.1:c.404-1172_404-1170del
NM_001408512.1:c.284-1172_284-1170del
NM_001408513.1:c.578-1172_578-1170del
NM_001408514.1:c.578-1172_578-1170del
NM_007294.4:c.3327_3329delMANE SELECT
NM_007297.4:c.3186_3188del
NM_007298.4:c.788-1172_788-1170del
NM_007299.4:c.788-1172_788-1170del
NM_007300.4:c.3327_3329del
NP_001394500.1:p.Lys1039del
NP_001394510.1:p.Lys1110del
NP_001394511.1:p.Lys1110del
NP_001394512.1:p.Lys1110del
NP_001394514.1:p.Lys1110del
NP_001394516.1:p.Lys1109del
NP_001394519.1:p.Lys1109del
NP_001394520.1:p.Lys1109del
NP_001394522.1:p.Lys1110del
NP_001394523.1:p.Lys1110del
NP_001394525.1:p.Lys1110del
NP_001394526.1:p.Lys1110del
NP_001394527.1:p.Lys1110del
NP_001394531.1:p.Lys1110del
NP_001394532.1:p.Lys1110del
NP_001394534.1:p.Lys1110del
NP_001394539.1:p.Lys1109del
NP_001394540.1:p.Lys1109del
NP_001394541.1:p.Lys1109del
NP_001394542.1:p.Lys1109del
NP_001394543.1:p.Lys1109del
NP_001394544.1:p.Lys1109del
NP_001394545.1:p.Lys1110del
NP_001394546.1:p.Lys1110del
NP_001394547.1:p.Lys1110del
NP_001394548.1:p.Lys1110del
NP_001394549.1:p.Lys1110del
NP_001394550.1:p.Lys1110del
NP_001394551.1:p.Lys1110del
NP_001394552.1:p.Lys1110del
NP_001394553.1:p.Lys1110del
NP_001394554.1:p.Lys1110del
NP_001394555.1:p.Lys1110del
NP_001394556.1:p.Lys1109del
NP_001394557.1:p.Lys1109del
NP_001394558.1:p.Lys1109del
NP_001394559.1:p.Lys1109del
NP_001394560.1:p.Lys1109del
NP_001394561.1:p.Lys1109del
NP_001394562.1:p.Lys1109del
NP_001394563.1:p.Lys1109del
NP_001394564.1:p.Lys1109del
NP_001394565.1:p.Lys1109del
NP_001394566.1:p.Lys1109del
NP_001394567.1:p.Lys1109del
NP_001394568.1:p.Lys1110del
NP_001394569.1:p.Lys1110del
NP_001394570.1:p.Lys1110del
NP_001394571.1:p.Lys1110del
NP_001394573.1:p.Lys1109del
NP_001394574.1:p.Lys1109del
NP_001394575.1:p.Lys1107del
NP_001394576.1:p.Lys1107del
NP_001394577.1:p.Lys1069del
NP_001394578.1:p.Lys1068del
NP_001394581.1:p.Lys1110del
NP_001394582.1:p.Lys1084del
NP_001394583.1:p.Lys1084del
NP_001394584.1:p.Lys1084del
NP_001394585.1:p.Lys1084del
NP_001394586.1:p.Lys1084del
NP_001394587.1:p.Lys1084del
NP_001394588.1:p.Lys1083del
NP_001394589.1:p.Lys1083del
NP_001394590.1:p.Lys1083del
NP_001394591.1:p.Lys1083del
NP_001394592.1:p.Lys1084del
NP_001394593.1:p.Lys1069del
NP_001394594.1:p.Lys1069del
NP_001394595.1:p.Lys1069del
NP_001394596.1:p.Lys1069del
NP_001394597.1:p.Lys1069del
NP_001394598.1:p.Lys1069del
NP_001394599.1:p.Lys1068del
NP_001394600.1:p.Lys1068del
NP_001394601.1:p.Lys1068del
NP_001394602.1:p.Lys1068del
NP_001394603.1:p.Lys1069del
NP_001394604.1:p.Lys1069del
NP_001394605.1:p.Lys1069del
NP_001394606.1:p.Lys1069del
NP_001394607.1:p.Lys1069del
NP_001394608.1:p.Lys1069del
NP_001394609.1:p.Lys1069del
NP_001394610.1:p.Lys1069del
NP_001394611.1:p.Lys1069del
NP_001394612.1:p.Lys1069del
NP_001394613.1:p.Lys1110del
NP_001394614.1:p.Lys1068del
NP_001394615.1:p.Lys1068del
NP_001394616.1:p.Lys1068del
NP_001394617.1:p.Lys1068del
NP_001394618.1:p.Lys1068del
NP_001394619.1:p.Lys1068del
NP_001394620.1:p.Lys1068del
NP_001394621.1:p.Lys1063del
NP_001394623.1:p.Lys1063del
NP_001394624.1:p.Lys1063del
NP_001394625.1:p.Lys1063del
NP_001394626.1:p.Lys1063del
NP_001394627.1:p.Lys1063del
NP_001394653.1:p.Lys1063del
NP_001394654.1:p.Lys1063del
NP_001394655.1:p.Lys1063del
NP_001394656.1:p.Lys1063del
NP_001394657.1:p.Lys1063del
NP_001394658.1:p.Lys1063del
NP_001394659.1:p.Lys1063del
NP_001394660.1:p.Lys1063del
NP_001394661.1:p.Lys1063del
NP_001394662.1:p.Lys1063del
NP_001394663.1:p.Lys1063del
NP_001394664.1:p.Lys1063del
NP_001394665.1:p.Lys1063del
NP_001394666.1:p.Lys1063del
NP_001394667.1:p.Lys1063del
NP_001394668.1:p.Lys1063del
NP_001394669.1:p.Lys1062del
NP_001394670.1:p.Lys1062del
NP_001394671.1:p.Lys1062del
NP_001394672.1:p.Lys1062del
NP_001394673.1:p.Lys1062del
NP_001394674.1:p.Lys1062del
NP_001394675.1:p.Lys1062del
NP_001394676.1:p.Lys1062del
NP_001394677.1:p.Lys1062del
NP_001394678.1:p.Lys1062del
NP_001394679.1:p.Lys1063del
NP_001394680.1:p.Lys1063del
NP_001394681.1:p.Lys1063del
NP_001394767.1:p.Lys1062del
NP_001394768.1:p.Lys1062del
NP_001394770.1:p.Lys1062del
NP_001394771.1:p.Lys1062del
NP_001394772.1:p.Lys1062del
NP_001394773.1:p.Lys1062del
NP_001394774.1:p.Lys1062del
NP_001394775.1:p.Lys1062del
NP_001394776.1:p.Lys1062del
NP_001394777.1:p.Lys1062del
NP_001394778.1:p.Lys1062del
NP_001394779.1:p.Lys1063del
NP_001394780.1:p.Lys1063del
NP_001394781.1:p.Lys1063del
NP_001394782.1:p.Lys1039del
NP_001394783.1:p.Lys1110del
NP_001394787.1:p.Lys1110del
NP_001394788.1:p.Lys1110del
NP_001394789.1:p.Lys1109del
NP_001394790.1:p.Lys1109del
NP_001394791.1:p.Lys1043del
NP_001394792.1:p.Lys1069del
NP_001394803.1:p.Lys1042del
NP_001394804.1:p.Lys1042del
NP_001394808.1:p.Lys1040del
NP_001394810.1:p.Lys1040del
NP_001394811.1:p.Lys1040del
NP_001394813.1:p.Lys1040del
NP_001394814.1:p.Lys1040del
NP_001394815.1:p.Lys1040del
NP_001394816.1:p.Lys1040del
NP_001394818.1:p.Lys1040del
NP_001394823.1:p.Lys1039del
NP_001394824.1:p.Lys1039del
NP_001394825.1:p.Lys1039del
NP_001394826.1:p.Lys1039del
NP_001394827.1:p.Lys1039del
NP_001394828.1:p.Lys1039del
NP_001394829.1:p.Lys1040del
NP_001394831.1:p.Lys1040del
NP_001394833.1:p.Lys1040del
NP_001394835.1:p.Lys1040del
NP_001394836.1:p.Lys1040del
NP_001394837.1:p.Lys1040del
NP_001394838.1:p.Lys1040del
NP_001394839.1:p.Lys1040del
NP_001394844.1:p.Lys1039del
NP_001394845.1:p.Lys1039del
NP_001394846.1:p.Lys1039del
NP_001394847.1:p.Lys1039del
NP_001394848.1:p.Lys1069del
NP_001394849.1:p.Lys1022del
NP_001394850.1:p.Lys1022del
NP_001394851.1:p.Lys1022del
NP_001394852.1:p.Lys1022del
NP_001394853.1:p.Lys1022del
NP_001394854.1:p.Lys1022del
NP_001394855.1:p.Lys1022del
NP_001394856.1:p.Lys1022del
NP_001394857.1:p.Lys1022del
NP_001394858.1:p.Lys1022del
NP_001394859.1:p.Lys1021del
NP_001394860.1:p.Lys1021del
NP_001394861.1:p.Lys1021del
NP_001394862.1:p.Lys1022del
NP_001394863.1:p.Lys1021del
NP_001394864.1:p.Lys1022del
NP_001394865.1:p.Lys1021del
NP_001394866.1:p.Lys1069del
NP_001394867.1:p.Lys1069del
NP_001394868.1:p.Lys1069del
NP_001394869.1:p.Lys1068del
NP_001394870.1:p.Lys1068del
NP_001394871.1:p.Lys1063del
NP_001394872.1:p.Lys1062del
NP_001394873.1:p.Lys1063del
NP_001394874.1:p.Lys1063del
NP_001394875.1:p.Lys999del
NP_001394876.1:p.Lys999del
NP_001394877.1:p.Lys999del
NP_001394878.1:p.Lys999del
NP_001394879.1:p.Lys999del
NP_001394880.1:p.Lys999del
NP_001394881.1:p.Lys999del
NP_001394882.1:p.Lys999del
NP_001394883.1:p.Lys998del
NP_001394884.1:p.Lys998del
NP_001394885.1:p.Lys998del
NP_001394886.1:p.Lys999del
NP_001394887.1:p.Lys998del
NP_001394888.1:p.Lys983del
NP_001394889.1:p.Lys983del
NP_001394891.1:p.Lys982del
NP_001394892.1:p.Lys983del
NP_001394893.1:p.Lys1062del
NP_001394894.1:p.Lys942del
NP_001394895.1:p.Lys814del
NP_001394896.1:p.Lys814del
NP_009225.1:p.Lys1110del
NP_009225.1:p.Lys1110del
NP_009225.1:p.Lys1110del
NP_009228.2:p.Lys1063del
NP_009231.2:p.Lys1110del
LRG_292t1:c.3327_3329del
LRG_292:g.125780_125782del
LRG_292p1:p.Lys1110del
NC_000017.10:g.41244219_41244221del
NC_000017.10:g.41244222_41244224del
NC_000017.10:g.41244222_41244224delTTT
NC_000017.11:g.43092205_43092207del
NM_007294.3:c.3324_3326delAAA
NM_007294.3:c.3327_3329del
NM_007294.3:c.3327_3329delAAA
NM_007294.4:c.3327_3329delAAAMANE SELECT
NR_027676.1:n.3460_3462delAAA
U14680.1:n.3446_3448delAAA
p.K1109del
p.K1110del

Protein change:

K1021del

Links:

dbSNP: rs80357575

NCBI 1000 Genomes Browser:

rs80357575

Molecular consequence:

NM_001407571.1:c.3114_3116del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407581.1:c.3327_3329del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407582.1:c.3327_3329del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407583.1:c.3327_3329del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407585.1:c.3327_3329del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407587.1:c.3324_3326del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407590.1:c.3324_3326del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407591.1:c.3324_3326del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407593.1:c.3327_3329del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407594.1:c.3327_3329del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407596.1:c.3327_3329del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407597.1:c.3327_3329del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407598.1:c.3327_3329del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407602.1:c.3327_3329del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407603.1:c.3327_3329del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407605.1:c.3327_3329del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407610.1:c.3324_3326del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407611.1:c.3324_3326del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407612.1:c.3324_3326del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407613.1:c.3324_3326del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407614.1:c.3324_3326del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407615.1:c.3324_3326del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407616.1:c.3327_3329del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407617.1:c.3327_3329del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407618.1:c.3327_3329del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407619.1:c.3327_3329del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407620.1:c.3327_3329del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407621.1:c.3327_3329del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407622.1:c.3327_3329del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407623.1:c.3327_3329del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407624.1:c.3327_3329del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407625.1:c.3327_3329del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407626.1:c.3327_3329del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407627.1:c.3324_3326del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407628.1:c.3324_3326del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407629.1:c.3324_3326del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407630.1:c.3324_3326del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407631.1:c.3324_3326del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407632.1:c.3324_3326del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407633.1:c.3324_3326del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407634.1:c.3324_3326del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407635.1:c.3324_3326del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407636.1:c.3324_3326del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407637.1:c.3324_3326del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407638.1:c.3324_3326del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407639.1:c.3327_3329del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407640.1:c.3327_3329del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407641.1:c.3327_3329del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407642.1:c.3327_3329del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407644.1:c.3324_3326del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407645.1:c.3324_3326del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407646.1:c.3318_3320del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407647.1:c.3318_3320del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407648.1:c.3204_3206del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407649.1:c.3201_3203del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407652.1:c.3327_3329del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407653.1:c.3249_3251del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407654.1:c.3249_3251del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407655.1:c.3249_3251del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407656.1:c.3249_3251del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407657.1:c.3249_3251del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407658.1:c.3249_3251del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407659.1:c.3246_3248del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407660.1:c.3246_3248del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407661.1:c.3246_3248del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407662.1:c.3246_3248del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407663.1:c.3249_3251del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407664.1:c.3204_3206del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407665.1:c.3204_3206del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407666.1:c.3204_3206del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407667.1:c.3204_3206del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407668.1:c.3204_3206del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407669.1:c.3204_3206del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407670.1:c.3201_3203del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407671.1:c.3201_3203del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407672.1:c.3201_3203del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407673.1:c.3201_3203del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407674.1:c.3204_3206del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407675.1:c.3204_3206del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407676.1:c.3204_3206del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407677.1:c.3204_3206del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407678.1:c.3204_3206del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407679.1:c.3204_3206del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407680.1:c.3204_3206del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407681.1:c.3204_3206del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407682.1:c.3204_3206del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407683.1:c.3204_3206del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407684.1:c.3327_3329del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407685.1:c.3201_3203del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407686.1:c.3201_3203del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407687.1:c.3201_3203del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407688.1:c.3201_3203del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407689.1:c.3201_3203del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407690.1:c.3201_3203del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407691.1:c.3201_3203del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407692.1:c.3186_3188del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407694.1:c.3186_3188del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407695.1:c.3186_3188del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407696.1:c.3186_3188del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407697.1:c.3186_3188del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407698.1:c.3186_3188del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407724.1:c.3186_3188del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407725.1:c.3186_3188del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407726.1:c.3186_3188del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407727.1:c.3186_3188del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407728.1:c.3186_3188del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407729.1:c.3186_3188del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407730.1:c.3186_3188del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407731.1:c.3186_3188del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407732.1:c.3186_3188del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407733.1:c.3186_3188del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407734.1:c.3186_3188del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407735.1:c.3186_3188del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407736.1:c.3186_3188del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407737.1:c.3186_3188del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407738.1:c.3186_3188del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407739.1:c.3186_3188del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407740.1:c.3183_3185del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407741.1:c.3183_3185del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407742.1:c.3183_3185del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407743.1:c.3183_3185del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407744.1:c.3183_3185del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407745.1:c.3183_3185del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407746.1:c.3183_3185del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407747.1:c.3183_3185del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407748.1:c.3183_3185del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407749.1:c.3183_3185del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407750.1:c.3186_3188del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407751.1:c.3186_3188del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407752.1:c.3186_3188del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407838.1:c.3183_3185del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407839.1:c.3183_3185del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407841.1:c.3183_3185del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407842.1:c.3183_3185del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407843.1:c.3183_3185del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407844.1:c.3183_3185del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407845.1:c.3183_3185del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407846.1:c.3183_3185del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407847.1:c.3183_3185del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407848.1:c.3183_3185del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407849.1:c.3183_3185del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407850.1:c.3186_3188del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407851.1:c.3186_3188del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407852.1:c.3186_3188del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407853.1:c.3114_3116del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407854.1:c.3327_3329del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407858.1:c.3327_3329del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407859.1:c.3327_3329del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407860.1:c.3324_3326del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407861.1:c.3324_3326del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407862.1:c.3126_3128del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407863.1:c.3204_3206del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407874.1:c.3123_3125del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407875.1:c.3123_3125del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407879.1:c.3117_3119del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407881.1:c.3117_3119del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407882.1:c.3117_3119del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407884.1:c.3117_3119del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407885.1:c.3117_3119del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407886.1:c.3117_3119del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407887.1:c.3117_3119del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407889.1:c.3117_3119del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407894.1:c.3114_3116del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407895.1:c.3114_3116del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407896.1:c.3114_3116del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407897.1:c.3114_3116del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407898.1:c.3114_3116del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407899.1:c.3114_3116del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407900.1:c.3117_3119del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407902.1:c.3117_3119del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407904.1:c.3117_3119del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407906.1:c.3117_3119del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407907.1:c.3117_3119del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407908.1:c.3117_3119del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407909.1:c.3117_3119del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407910.1:c.3117_3119del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407915.1:c.3114_3116del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407916.1:c.3114_3116del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407917.1:c.3114_3116del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407918.1:c.3114_3116del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407919.1:c.3204_3206del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407920.1:c.3063_3065del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407921.1:c.3063_3065del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407922.1:c.3063_3065del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407923.1:c.3063_3065del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407924.1:c.3063_3065del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407925.1:c.3063_3065del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407926.1:c.3063_3065del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407927.1:c.3063_3065del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407928.1:c.3063_3065del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407929.1:c.3063_3065del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407930.1:c.3060_3062del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407931.1:c.3060_3062del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407932.1:c.3060_3062del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407933.1:c.3063_3065del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407934.1:c.3060_3062del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407935.1:c.3063_3065del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407936.1:c.3060_3062del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407937.1:c.3204_3206del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407938.1:c.3204_3206del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407939.1:c.3204_3206del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407940.1:c.3201_3203del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407941.1:c.3201_3203del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407942.1:c.3186_3188del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407943.1:c.3183_3185del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407944.1:c.3186_3188del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407945.1:c.3186_3188del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407946.1:c.2994_2996del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407947.1:c.2994_2996del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407948.1:c.2994_2996del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407949.1:c.2994_2996del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407950.1:c.2994_2996del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407951.1:c.2994_2996del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407952.1:c.2994_2996del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407953.1:c.2994_2996del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407954.1:c.2991_2993del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407955.1:c.2991_2993del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407956.1:c.2991_2993del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407957.1:c.2994_2996del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407958.1:c.2991_2993del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407959.1:c.2946_2948del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407960.1:c.2946_2948del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407962.1:c.2943_2945del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407963.1:c.2946_2948del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407964.1:c.3183_3185del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407965.1:c.2823_2825del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407966.1:c.2439_2441del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407967.1:c.2439_2441del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_007294.4:c.3327_3329del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_007297.4:c.3186_3188del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_007300.4:c.3327_3329del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407968.1:c.788-65_788-63del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.788-65_788-63del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.788-1172_788-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.788-1172_788-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.785-1172_785-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.788-1172_788-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.788-1172_788-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.788-1172_788-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.788-1172_788-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.788-1172_788-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.788-1172_788-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.788-1172_788-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.788-1172_788-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.788-1172_788-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.788-1172_788-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.788-1172_788-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.785-1172_785-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.785-1172_785-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.785-1172_785-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.788-1172_788-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.785-1172_785-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.785-1172_785-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.788-1172_788-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.785-1172_785-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.785-1172_785-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.785-1172_785-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.785-1172_785-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.785-1172_785-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.785-1172_785-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.785-1172_785-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.785-1172_785-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.788-1172_788-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.788-1172_788-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.791-1181_791-1179del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.785-1172_785-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.779-1172_779-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.710-1172_710-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.647-1172_647-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.710-1172_710-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.710-1172_710-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.707-1172_707-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.710-1172_710-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.710-1172_710-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.707-1172_707-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.671-1172_671-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.671-1172_671-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.671-1172_671-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.668-1172_668-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.671-1172_671-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.671-1172_671-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.668-1172_668-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.665-1172_665-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.665-1172_665-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.665-1172_665-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.665-1172_665-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.665-1172_665-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.665-1172_665-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.668-1172_668-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.662-1172_662-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.662-1172_662-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.662-1172_662-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.662-1172_662-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.665-1172_665-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.665-1172_665-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.665-1172_665-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.665-1172_665-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.665-1172_665-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.665-1172_665-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.665-1172_665-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.665-1172_665-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.665-1172_665-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.662-1172_662-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.662-1172_662-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.662-1172_662-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.662-1172_662-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.662-1172_662-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.653-1172_653-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.647-1172_647-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.647-1172_647-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.647-1172_647-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.647-1172_647-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.647-1172_647-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.647-1172_647-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.647-1172_647-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.647-1172_647-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.647-1172_647-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.647-1172_647-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.644-1172_644-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.644-1172_644-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.644-1172_644-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.644-1172_644-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.647-1172_647-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.647-1172_647-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.644-1172_644-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.647-1172_647-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.644-1172_644-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.788-1172_788-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.785-1172_785-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.587-1172_587-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.584-1172_584-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.587-1172_587-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.578-1172_578-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.578-1172_578-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.578-1172_578-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.578-1172_578-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.578-1172_578-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.578-1172_578-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.578-1172_578-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.578-1172_578-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.578-1172_578-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.575-1172_575-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.575-1172_575-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.578-1172_578-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.575-1172_575-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-1172_548-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-1172_545-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.524-1172_524-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.524-1172_524-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.524-1172_524-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.524-1172_524-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.524-1172_524-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.524-1172_524-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.455-1172_455-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.521-1172_521-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.521-1172_521-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.521-1172_521-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.461-1172_461-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.461-1172_461-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.452-1172_452-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.452-1172_452-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.407-1172_407-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-1172_404-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.284-1172_284-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.578-1172_578-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.578-1172_578-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.788-1172_788-1170del - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.788-1172_788-1170del - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000144717	Breast Cancer Information Core (BIC) (BRCA1)	no assertion criteria provided	Uncertain significance (Dec 23, 2003)	germline	clinical testing
SCV000784882	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Uncertain significance (Jan 17, 2017)	unknown	clinical testing	PubMed (3) [See all records that cite these PMIDs] 23867111, 16267036, 18273839 Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000144717

Breast Cancer Information Core (BIC) (BRCA1)

no assertion criteria provided

Uncertain significance
(Dec 23, 2003)

germline

clinical testing

SCV000784882

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))

Uncertain significance
(Jan 17, 2017)

unknown

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
Western European	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A high-throughput functional complementation assay for classification of BRCA1 missense variants.

Bouwman P, van der Gulden H, van der Heijden I, Drost R, Klijn CN, Prasetyanti P, Pieterse M, Wientjens E, Seibler J, Hogervorst FB, Jonkers J.

Cancer Discov. 2013 Oct;3(10):1142-55. doi: 10.1158/2159-8290.CD-13-0094. Epub 2013 Jul 18.

PubMed [citation]

PMID:: 23867111

Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations.

Judkins T, Hendrickson BC, Deffenbaugh AM, Eliason K, Leclair B, Norton MJ, Ward BE, Pruss D, Scholl T.

Cancer Res. 2005 Nov 1;65(21):10096-103.

PubMed [citation]

PMID:: 16267036

See all PubMed Citations (3)

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA1), SCV000144717.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided
2	Western European	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
2	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

From Counsyl, SCV000784882.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 24, 2024

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