NM_007294.4(BRCA1):c.3079_3080delinsGA (p.Ser1027Asp) AND Hereditary cancer-predisposing syndrome

Germline classification:: Likely benign (1 submission)
Last evaluated:: Mar 23, 2023
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:: RCV003158111.3

Allele description [Variation Report for NM_007294.4(BRCA1):c.3079_3080delinsGA (p.Ser1027Asp)]

NM_007294.4(BRCA1):c.3079_3080delinsGA (p.Ser1027Asp)

Gene:

BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.3079_3080delinsGA (p.Ser1027Asp)

HGVS:

NC_000017.11:g.43092451_43092452delinsTC
NG_005905.2:g.125532_125533delinsGA
NM_001407571.1:c.2866_2867delinsGA
NM_001407581.1:c.3079_3080delinsGA
NM_001407582.1:c.3079_3080delinsGA
NM_001407583.1:c.3079_3080delinsGA
NM_001407585.1:c.3079_3080delinsGA
NM_001407587.1:c.3076_3077delinsGA
NM_001407590.1:c.3076_3077delinsGA
NM_001407591.1:c.3076_3077delinsGA
NM_001407593.1:c.3079_3080delinsGA
NM_001407594.1:c.3079_3080delinsGA
NM_001407596.1:c.3079_3080delinsGA
NM_001407597.1:c.3079_3080delinsGA
NM_001407598.1:c.3079_3080delinsGA
NM_001407602.1:c.3079_3080delinsGA
NM_001407603.1:c.3079_3080delinsGA
NM_001407605.1:c.3079_3080delinsGA
NM_001407610.1:c.3076_3077delinsGA
NM_001407611.1:c.3076_3077delinsGA
NM_001407612.1:c.3076_3077delinsGA
NM_001407613.1:c.3076_3077delinsGA
NM_001407614.1:c.3076_3077delinsGA
NM_001407615.1:c.3076_3077delinsGA
NM_001407616.1:c.3079_3080delinsGA
NM_001407617.1:c.3079_3080delinsGA
NM_001407618.1:c.3079_3080delinsGA
NM_001407619.1:c.3079_3080delinsGA
NM_001407620.1:c.3079_3080delinsGA
NM_001407621.1:c.3079_3080delinsGA
NM_001407622.1:c.3079_3080delinsGA
NM_001407623.1:c.3079_3080delinsGA
NM_001407624.1:c.3079_3080delinsGA
NM_001407625.1:c.3079_3080delinsGA
NM_001407626.1:c.3079_3080delinsGA
NM_001407627.1:c.3076_3077delinsGA
NM_001407628.1:c.3076_3077delinsGA
NM_001407629.1:c.3076_3077delinsGA
NM_001407630.1:c.3076_3077delinsGA
NM_001407631.1:c.3076_3077delinsGA
NM_001407632.1:c.3076_3077delinsGA
NM_001407633.1:c.3076_3077delinsGA
NM_001407634.1:c.3076_3077delinsGA
NM_001407635.1:c.3076_3077delinsGA
NM_001407636.1:c.3076_3077delinsGA
NM_001407637.1:c.3076_3077delinsGA
NM_001407638.1:c.3076_3077delinsGA
NM_001407639.1:c.3079_3080delinsGA
NM_001407640.1:c.3079_3080delinsGA
NM_001407641.1:c.3079_3080delinsGA
NM_001407642.1:c.3079_3080delinsGA
NM_001407644.1:c.3076_3077delinsGA
NM_001407645.1:c.3076_3077delinsGA
NM_001407646.1:c.3070_3071delinsGA
NM_001407647.1:c.3070_3071delinsGA
NM_001407648.1:c.2956_2957delinsGA
NM_001407649.1:c.2953_2954delinsGA
NM_001407652.1:c.3079_3080delinsGA
NM_001407653.1:c.3001_3002delinsGA
NM_001407654.1:c.3001_3002delinsGA
NM_001407655.1:c.3001_3002delinsGA
NM_001407656.1:c.3001_3002delinsGA
NM_001407657.1:c.3001_3002delinsGA
NM_001407658.1:c.3001_3002delinsGA
NM_001407659.1:c.2998_2999delinsGA
NM_001407660.1:c.2998_2999delinsGA
NM_001407661.1:c.2998_2999delinsGA
NM_001407662.1:c.2998_2999delinsGA
NM_001407663.1:c.3001_3002delinsGA
NM_001407664.1:c.2956_2957delinsGA
NM_001407665.1:c.2956_2957delinsGA
NM_001407666.1:c.2956_2957delinsGA
NM_001407667.1:c.2956_2957delinsGA
NM_001407668.1:c.2956_2957delinsGA
NM_001407669.1:c.2956_2957delinsGA
NM_001407670.1:c.2953_2954delinsGA
NM_001407671.1:c.2953_2954delinsGA
NM_001407672.1:c.2953_2954delinsGA
NM_001407673.1:c.2953_2954delinsGA
NM_001407674.1:c.2956_2957delinsGA
NM_001407675.1:c.2956_2957delinsGA
NM_001407676.1:c.2956_2957delinsGA
NM_001407677.1:c.2956_2957delinsGA
NM_001407678.1:c.2956_2957delinsGA
NM_001407679.1:c.2956_2957delinsGA
NM_001407680.1:c.2956_2957delinsGA
NM_001407681.1:c.2956_2957delinsGA
NM_001407682.1:c.2956_2957delinsGA
NM_001407683.1:c.2956_2957delinsGA
NM_001407684.1:c.3079_3080delinsGA
NM_001407685.1:c.2953_2954delinsGA
NM_001407686.1:c.2953_2954delinsGA
NM_001407687.1:c.2953_2954delinsGA
NM_001407688.1:c.2953_2954delinsGA
NM_001407689.1:c.2953_2954delinsGA
NM_001407690.1:c.2953_2954delinsGA
NM_001407691.1:c.2953_2954delinsGA
NM_001407692.1:c.2938_2939delinsGA
NM_001407694.1:c.2938_2939delinsGA
NM_001407695.1:c.2938_2939delinsGA
NM_001407696.1:c.2938_2939delinsGA
NM_001407697.1:c.2938_2939delinsGA
NM_001407698.1:c.2938_2939delinsGA
NM_001407724.1:c.2938_2939delinsGA
NM_001407725.1:c.2938_2939delinsGA
NM_001407726.1:c.2938_2939delinsGA
NM_001407727.1:c.2938_2939delinsGA
NM_001407728.1:c.2938_2939delinsGA
NM_001407729.1:c.2938_2939delinsGA
NM_001407730.1:c.2938_2939delinsGA
NM_001407731.1:c.2938_2939delinsGA
NM_001407732.1:c.2938_2939delinsGA
NM_001407733.1:c.2938_2939delinsGA
NM_001407734.1:c.2938_2939delinsGA
NM_001407735.1:c.2938_2939delinsGA
NM_001407736.1:c.2938_2939delinsGA
NM_001407737.1:c.2938_2939delinsGA
NM_001407738.1:c.2938_2939delinsGA
NM_001407739.1:c.2938_2939delinsGA
NM_001407740.1:c.2935_2936delinsGA
NM_001407741.1:c.2935_2936delinsGA
NM_001407742.1:c.2935_2936delinsGA
NM_001407743.1:c.2935_2936delinsGA
NM_001407744.1:c.2935_2936delinsGA
NM_001407745.1:c.2935_2936delinsGA
NM_001407746.1:c.2935_2936delinsGA
NM_001407747.1:c.2935_2936delinsGA
NM_001407748.1:c.2935_2936delinsGA
NM_001407749.1:c.2935_2936delinsGA
NM_001407750.1:c.2938_2939delinsGA
NM_001407751.1:c.2938_2939delinsGA
NM_001407752.1:c.2938_2939delinsGA
NM_001407838.1:c.2935_2936delinsGA
NM_001407839.1:c.2935_2936delinsGA
NM_001407841.1:c.2935_2936delinsGA
NM_001407842.1:c.2935_2936delinsGA
NM_001407843.1:c.2935_2936delinsGA
NM_001407844.1:c.2935_2936delinsGA
NM_001407845.1:c.2935_2936delinsGA
NM_001407846.1:c.2935_2936delinsGA
NM_001407847.1:c.2935_2936delinsGA
NM_001407848.1:c.2935_2936delinsGA
NM_001407849.1:c.2935_2936delinsGA
NM_001407850.1:c.2938_2939delinsGA
NM_001407851.1:c.2938_2939delinsGA
NM_001407852.1:c.2938_2939delinsGA
NM_001407853.1:c.2866_2867delinsGA
NM_001407854.1:c.3079_3080delinsGA
NM_001407858.1:c.3079_3080delinsGA
NM_001407859.1:c.3079_3080delinsGA
NM_001407860.1:c.3076_3077delinsGA
NM_001407861.1:c.3076_3077delinsGA
NM_001407862.1:c.2878_2879delinsGA
NM_001407863.1:c.2956_2957delinsGA
NM_001407874.1:c.2875_2876delinsGA
NM_001407875.1:c.2875_2876delinsGA
NM_001407879.1:c.2869_2870delinsGA
NM_001407881.1:c.2869_2870delinsGA
NM_001407882.1:c.2869_2870delinsGA
NM_001407884.1:c.2869_2870delinsGA
NM_001407885.1:c.2869_2870delinsGA
NM_001407886.1:c.2869_2870delinsGA
NM_001407887.1:c.2869_2870delinsGA
NM_001407889.1:c.2869_2870delinsGA
NM_001407894.1:c.2866_2867delinsGA
NM_001407895.1:c.2866_2867delinsGA
NM_001407896.1:c.2866_2867delinsGA
NM_001407897.1:c.2866_2867delinsGA
NM_001407898.1:c.2866_2867delinsGA
NM_001407899.1:c.2866_2867delinsGA
NM_001407900.1:c.2869_2870delinsGA
NM_001407902.1:c.2869_2870delinsGA
NM_001407904.1:c.2869_2870delinsGA
NM_001407906.1:c.2869_2870delinsGA
NM_001407907.1:c.2869_2870delinsGA
NM_001407908.1:c.2869_2870delinsGA
NM_001407909.1:c.2869_2870delinsGA
NM_001407910.1:c.2869_2870delinsGA
NM_001407915.1:c.2866_2867delinsGA
NM_001407916.1:c.2866_2867delinsGA
NM_001407917.1:c.2866_2867delinsGA
NM_001407918.1:c.2866_2867delinsGA
NM_001407919.1:c.2956_2957delinsGA
NM_001407920.1:c.2815_2816delinsGA
NM_001407921.1:c.2815_2816delinsGA
NM_001407922.1:c.2815_2816delinsGA
NM_001407923.1:c.2815_2816delinsGA
NM_001407924.1:c.2815_2816delinsGA
NM_001407925.1:c.2815_2816delinsGA
NM_001407926.1:c.2815_2816delinsGA
NM_001407927.1:c.2815_2816delinsGA
NM_001407928.1:c.2815_2816delinsGA
NM_001407929.1:c.2815_2816delinsGA
NM_001407930.1:c.2812_2813delinsGA
NM_001407931.1:c.2812_2813delinsGA
NM_001407932.1:c.2812_2813delinsGA
NM_001407933.1:c.2815_2816delinsGA
NM_001407934.1:c.2812_2813delinsGA
NM_001407935.1:c.2815_2816delinsGA
NM_001407936.1:c.2812_2813delinsGA
NM_001407937.1:c.2956_2957delinsGA
NM_001407938.1:c.2956_2957delinsGA
NM_001407939.1:c.2956_2957delinsGA
NM_001407940.1:c.2953_2954delinsGA
NM_001407941.1:c.2953_2954delinsGA
NM_001407942.1:c.2938_2939delinsGA
NM_001407943.1:c.2935_2936delinsGA
NM_001407944.1:c.2938_2939delinsGA
NM_001407945.1:c.2938_2939delinsGA
NM_001407946.1:c.2746_2747delinsGA
NM_001407947.1:c.2746_2747delinsGA
NM_001407948.1:c.2746_2747delinsGA
NM_001407949.1:c.2746_2747delinsGA
NM_001407950.1:c.2746_2747delinsGA
NM_001407951.1:c.2746_2747delinsGA
NM_001407952.1:c.2746_2747delinsGA
NM_001407953.1:c.2746_2747delinsGA
NM_001407954.1:c.2743_2744delinsGA
NM_001407955.1:c.2743_2744delinsGA
NM_001407956.1:c.2743_2744delinsGA
NM_001407957.1:c.2746_2747delinsGA
NM_001407958.1:c.2743_2744delinsGA
NM_001407959.1:c.2698_2699delinsGA
NM_001407960.1:c.2698_2699delinsGA
NM_001407962.1:c.2695_2696delinsGA
NM_001407963.1:c.2698_2699delinsGA
NM_001407964.1:c.2935_2936delinsGA
NM_001407965.1:c.2575_2576delinsGA
NM_001407966.1:c.2191_2192delinsGA
NM_001407967.1:c.2191_2192delinsGA
NM_001407968.1:c.788-313_788-312delinsGA
NM_001407969.1:c.788-313_788-312delinsGA
NM_001407970.1:c.788-1420_788-1419delinsGA
NM_001407971.1:c.788-1420_788-1419delinsGA
NM_001407972.1:c.785-1420_785-1419delinsGA
NM_001407973.1:c.788-1420_788-1419delinsGA
NM_001407974.1:c.788-1420_788-1419delinsGA
NM_001407975.1:c.788-1420_788-1419delinsGA
NM_001407976.1:c.788-1420_788-1419delinsGA
NM_001407977.1:c.788-1420_788-1419delinsGA
NM_001407978.1:c.788-1420_788-1419delinsGA
NM_001407979.1:c.788-1420_788-1419delinsGA
NM_001407980.1:c.788-1420_788-1419delinsGA
NM_001407981.1:c.788-1420_788-1419delinsGA
NM_001407982.1:c.788-1420_788-1419delinsGA
NM_001407983.1:c.788-1420_788-1419delinsGA
NM_001407984.1:c.785-1420_785-1419delinsGA
NM_001407985.1:c.785-1420_785-1419delinsGA
NM_001407986.1:c.785-1420_785-1419delinsGA
NM_001407990.1:c.788-1420_788-1419delinsGA
NM_001407991.1:c.785-1420_785-1419delinsGA
NM_001407992.1:c.785-1420_785-1419delinsGA
NM_001407993.1:c.788-1420_788-1419delinsGA
NM_001408392.1:c.785-1420_785-1419delinsGA
NM_001408396.1:c.785-1420_785-1419delinsGA
NM_001408397.1:c.785-1420_785-1419delinsGA
NM_001408398.1:c.785-1420_785-1419delinsGA
NM_001408399.1:c.785-1420_785-1419delinsGA
NM_001408400.1:c.785-1420_785-1419delinsGA
NM_001408401.1:c.785-1420_785-1419delinsGA
NM_001408402.1:c.785-1420_785-1419delinsGA
NM_001408403.1:c.788-1420_788-1419delinsGA
NM_001408404.1:c.788-1420_788-1419delinsGA
NM_001408406.1:c.791-1429_791-1428delinsGA
NM_001408407.1:c.785-1420_785-1419delinsGA
NM_001408408.1:c.779-1420_779-1419delinsGA
NM_001408409.1:c.710-1420_710-1419delinsGA
NM_001408410.1:c.647-1420_647-1419delinsGA
NM_001408411.1:c.710-1420_710-1419delinsGA
NM_001408412.1:c.710-1420_710-1419delinsGA
NM_001408413.1:c.707-1420_707-1419delinsGA
NM_001408414.1:c.710-1420_710-1419delinsGA
NM_001408415.1:c.710-1420_710-1419delinsGA
NM_001408416.1:c.707-1420_707-1419delinsGA
NM_001408418.1:c.671-1420_671-1419delinsGA
NM_001408419.1:c.671-1420_671-1419delinsGA
NM_001408420.1:c.671-1420_671-1419delinsGA
NM_001408421.1:c.668-1420_668-1419delinsGA
NM_001408422.1:c.671-1420_671-1419delinsGA
NM_001408423.1:c.671-1420_671-1419delinsGA
NM_001408424.1:c.668-1420_668-1419delinsGA
NM_001408425.1:c.665-1420_665-1419delinsGA
NM_001408426.1:c.665-1420_665-1419delinsGA
NM_001408427.1:c.665-1420_665-1419delinsGA
NM_001408428.1:c.665-1420_665-1419delinsGA
NM_001408429.1:c.665-1420_665-1419delinsGA
NM_001408430.1:c.665-1420_665-1419delinsGA
NM_001408431.1:c.668-1420_668-1419delinsGA
NM_001408432.1:c.662-1420_662-1419delinsGA
NM_001408433.1:c.662-1420_662-1419delinsGA
NM_001408434.1:c.662-1420_662-1419delinsGA
NM_001408435.1:c.662-1420_662-1419delinsGA
NM_001408436.1:c.665-1420_665-1419delinsGA
NM_001408437.1:c.665-1420_665-1419delinsGA
NM_001408438.1:c.665-1420_665-1419delinsGA
NM_001408439.1:c.665-1420_665-1419delinsGA
NM_001408440.1:c.665-1420_665-1419delinsGA
NM_001408441.1:c.665-1420_665-1419delinsGA
NM_001408442.1:c.665-1420_665-1419delinsGA
NM_001408443.1:c.665-1420_665-1419delinsGA
NM_001408444.1:c.665-1420_665-1419delinsGA
NM_001408445.1:c.662-1420_662-1419delinsGA
NM_001408446.1:c.662-1420_662-1419delinsGA
NM_001408447.1:c.662-1420_662-1419delinsGA
NM_001408448.1:c.662-1420_662-1419delinsGA
NM_001408450.1:c.662-1420_662-1419delinsGA
NM_001408451.1:c.653-1420_653-1419delinsGA
NM_001408452.1:c.647-1420_647-1419delinsGA
NM_001408453.1:c.647-1420_647-1419delinsGA
NM_001408454.1:c.647-1420_647-1419delinsGA
NM_001408455.1:c.647-1420_647-1419delinsGA
NM_001408456.1:c.647-1420_647-1419delinsGA
NM_001408457.1:c.647-1420_647-1419delinsGA
NM_001408458.1:c.647-1420_647-1419delinsGA
NM_001408459.1:c.647-1420_647-1419delinsGA
NM_001408460.1:c.647-1420_647-1419delinsGA
NM_001408461.1:c.647-1420_647-1419delinsGA
NM_001408462.1:c.644-1420_644-1419delinsGA
NM_001408463.1:c.644-1420_644-1419delinsGA
NM_001408464.1:c.644-1420_644-1419delinsGA
NM_001408465.1:c.644-1420_644-1419delinsGA
NM_001408466.1:c.647-1420_647-1419delinsGA
NM_001408467.1:c.647-1420_647-1419delinsGA
NM_001408468.1:c.644-1420_644-1419delinsGA
NM_001408469.1:c.647-1420_647-1419delinsGA
NM_001408470.1:c.644-1420_644-1419delinsGA
NM_001408472.1:c.788-1420_788-1419delinsGA
NM_001408473.1:c.785-1420_785-1419delinsGA
NM_001408474.1:c.587-1420_587-1419delinsGA
NM_001408475.1:c.584-1420_584-1419delinsGA
NM_001408476.1:c.587-1420_587-1419delinsGA
NM_001408478.1:c.578-1420_578-1419delinsGA
NM_001408479.1:c.578-1420_578-1419delinsGA
NM_001408480.1:c.578-1420_578-1419delinsGA
NM_001408481.1:c.578-1420_578-1419delinsGA
NM_001408482.1:c.578-1420_578-1419delinsGA
NM_001408483.1:c.578-1420_578-1419delinsGA
NM_001408484.1:c.578-1420_578-1419delinsGA
NM_001408485.1:c.578-1420_578-1419delinsGA
NM_001408489.1:c.578-1420_578-1419delinsGA
NM_001408490.1:c.575-1420_575-1419delinsGA
NM_001408491.1:c.575-1420_575-1419delinsGA
NM_001408492.1:c.578-1420_578-1419delinsGA
NM_001408493.1:c.575-1420_575-1419delinsGA
NM_001408494.1:c.548-1420_548-1419delinsGA
NM_001408495.1:c.545-1420_545-1419delinsGA
NM_001408496.1:c.524-1420_524-1419delinsGA
NM_001408497.1:c.524-1420_524-1419delinsGA
NM_001408498.1:c.524-1420_524-1419delinsGA
NM_001408499.1:c.524-1420_524-1419delinsGA
NM_001408500.1:c.524-1420_524-1419delinsGA
NM_001408501.1:c.524-1420_524-1419delinsGA
NM_001408502.1:c.455-1420_455-1419delinsGA
NM_001408503.1:c.521-1420_521-1419delinsGA
NM_001408504.1:c.521-1420_521-1419delinsGA
NM_001408505.1:c.521-1420_521-1419delinsGA
NM_001408506.1:c.461-1420_461-1419delinsGA
NM_001408507.1:c.461-1420_461-1419delinsGA
NM_001408508.1:c.452-1420_452-1419delinsGA
NM_001408509.1:c.452-1420_452-1419delinsGA
NM_001408510.1:c.407-1420_407-1419delinsGA
NM_001408511.1:c.404-1420_404-1419delinsGA
NM_001408512.1:c.284-1420_284-1419delinsGA
NM_001408513.1:c.578-1420_578-1419delinsGA
NM_001408514.1:c.578-1420_578-1419delinsGA
NM_007294.4:c.3079_3080delinsGAMANE SELECT
NM_007297.4:c.2938_2939delinsGA
NM_007298.4:c.788-1420_788-1419delinsGA
NM_007299.4:c.788-1420_788-1419delinsGA
NM_007300.4:c.3079_3080delinsGA
NP_001394500.1:p.Ser956Asp
NP_001394510.1:p.Ser1027Asp
NP_001394511.1:p.Ser1027Asp
NP_001394512.1:p.Ser1027Asp
NP_001394514.1:p.Ser1027Asp
NP_001394516.1:p.Ser1026Asp
NP_001394519.1:p.Ser1026Asp
NP_001394520.1:p.Ser1026Asp
NP_001394522.1:p.Ser1027Asp
NP_001394523.1:p.Ser1027Asp
NP_001394525.1:p.Ser1027Asp
NP_001394526.1:p.Ser1027Asp
NP_001394527.1:p.Ser1027Asp
NP_001394531.1:p.Ser1027Asp
NP_001394532.1:p.Ser1027Asp
NP_001394534.1:p.Ser1027Asp
NP_001394539.1:p.Ser1026Asp
NP_001394540.1:p.Ser1026Asp
NP_001394541.1:p.Ser1026Asp
NP_001394542.1:p.Ser1026Asp
NP_001394543.1:p.Ser1026Asp
NP_001394544.1:p.Ser1026Asp
NP_001394545.1:p.Ser1027Asp
NP_001394546.1:p.Ser1027Asp
NP_001394547.1:p.Ser1027Asp
NP_001394548.1:p.Ser1027Asp
NP_001394549.1:p.Ser1027Asp
NP_001394550.1:p.Ser1027Asp
NP_001394551.1:p.Ser1027Asp
NP_001394552.1:p.Ser1027Asp
NP_001394553.1:p.Ser1027Asp
NP_001394554.1:p.Ser1027Asp
NP_001394555.1:p.Ser1027Asp
NP_001394556.1:p.Ser1026Asp
NP_001394557.1:p.Ser1026Asp
NP_001394558.1:p.Ser1026Asp
NP_001394559.1:p.Ser1026Asp
NP_001394560.1:p.Ser1026Asp
NP_001394561.1:p.Ser1026Asp
NP_001394562.1:p.Ser1026Asp
NP_001394563.1:p.Ser1026Asp
NP_001394564.1:p.Ser1026Asp
NP_001394565.1:p.Ser1026Asp
NP_001394566.1:p.Ser1026Asp
NP_001394567.1:p.Ser1026Asp
NP_001394568.1:p.Ser1027Asp
NP_001394569.1:p.Ser1027Asp
NP_001394570.1:p.Ser1027Asp
NP_001394571.1:p.Ser1027Asp
NP_001394573.1:p.Ser1026Asp
NP_001394574.1:p.Ser1026Asp
NP_001394575.1:p.Ser1024Asp
NP_001394576.1:p.Ser1024Asp
NP_001394577.1:p.Ser986Asp
NP_001394578.1:p.Ser985Asp
NP_001394581.1:p.Ser1027Asp
NP_001394582.1:p.Ser1001Asp
NP_001394583.1:p.Ser1001Asp
NP_001394584.1:p.Ser1001Asp
NP_001394585.1:p.Ser1001Asp
NP_001394586.1:p.Ser1001Asp
NP_001394587.1:p.Ser1001Asp
NP_001394588.1:p.Ser1000Asp
NP_001394589.1:p.Ser1000Asp
NP_001394590.1:p.Ser1000Asp
NP_001394591.1:p.Ser1000Asp
NP_001394592.1:p.Ser1001Asp
NP_001394593.1:p.Ser986Asp
NP_001394594.1:p.Ser986Asp
NP_001394595.1:p.Ser986Asp
NP_001394596.1:p.Ser986Asp
NP_001394597.1:p.Ser986Asp
NP_001394598.1:p.Ser986Asp
NP_001394599.1:p.Ser985Asp
NP_001394600.1:p.Ser985Asp
NP_001394601.1:p.Ser985Asp
NP_001394602.1:p.Ser985Asp
NP_001394603.1:p.Ser986Asp
NP_001394604.1:p.Ser986Asp
NP_001394605.1:p.Ser986Asp
NP_001394606.1:p.Ser986Asp
NP_001394607.1:p.Ser986Asp
NP_001394608.1:p.Ser986Asp
NP_001394609.1:p.Ser986Asp
NP_001394610.1:p.Ser986Asp
NP_001394611.1:p.Ser986Asp
NP_001394612.1:p.Ser986Asp
NP_001394613.1:p.Ser1027Asp
NP_001394614.1:p.Ser985Asp
NP_001394615.1:p.Ser985Asp
NP_001394616.1:p.Ser985Asp
NP_001394617.1:p.Ser985Asp
NP_001394618.1:p.Ser985Asp
NP_001394619.1:p.Ser985Asp
NP_001394620.1:p.Ser985Asp
NP_001394621.1:p.Ser980Asp
NP_001394623.1:p.Ser980Asp
NP_001394624.1:p.Ser980Asp
NP_001394625.1:p.Ser980Asp
NP_001394626.1:p.Ser980Asp
NP_001394627.1:p.Ser980Asp
NP_001394653.1:p.Ser980Asp
NP_001394654.1:p.Ser980Asp
NP_001394655.1:p.Ser980Asp
NP_001394656.1:p.Ser980Asp
NP_001394657.1:p.Ser980Asp
NP_001394658.1:p.Ser980Asp
NP_001394659.1:p.Ser980Asp
NP_001394660.1:p.Ser980Asp
NP_001394661.1:p.Ser980Asp
NP_001394662.1:p.Ser980Asp
NP_001394663.1:p.Ser980Asp
NP_001394664.1:p.Ser980Asp
NP_001394665.1:p.Ser980Asp
NP_001394666.1:p.Ser980Asp
NP_001394667.1:p.Ser980Asp
NP_001394668.1:p.Ser980Asp
NP_001394669.1:p.Ser979Asp
NP_001394670.1:p.Ser979Asp
NP_001394671.1:p.Ser979Asp
NP_001394672.1:p.Ser979Asp
NP_001394673.1:p.Ser979Asp
NP_001394674.1:p.Ser979Asp
NP_001394675.1:p.Ser979Asp
NP_001394676.1:p.Ser979Asp
NP_001394677.1:p.Ser979Asp
NP_001394678.1:p.Ser979Asp
NP_001394679.1:p.Ser980Asp
NP_001394680.1:p.Ser980Asp
NP_001394681.1:p.Ser980Asp
NP_001394767.1:p.Ser979Asp
NP_001394768.1:p.Ser979Asp
NP_001394770.1:p.Ser979Asp
NP_001394771.1:p.Ser979Asp
NP_001394772.1:p.Ser979Asp
NP_001394773.1:p.Ser979Asp
NP_001394774.1:p.Ser979Asp
NP_001394775.1:p.Ser979Asp
NP_001394776.1:p.Ser979Asp
NP_001394777.1:p.Ser979Asp
NP_001394778.1:p.Ser979Asp
NP_001394779.1:p.Ser980Asp
NP_001394780.1:p.Ser980Asp
NP_001394781.1:p.Ser980Asp
NP_001394782.1:p.Ser956Asp
NP_001394783.1:p.Ser1027Asp
NP_001394787.1:p.Ser1027Asp
NP_001394788.1:p.Ser1027Asp
NP_001394789.1:p.Ser1026Asp
NP_001394790.1:p.Ser1026Asp
NP_001394791.1:p.Ser960Asp
NP_001394792.1:p.Ser986Asp
NP_001394803.1:p.Ser959Asp
NP_001394804.1:p.Ser959Asp
NP_001394808.1:p.Ser957Asp
NP_001394810.1:p.Ser957Asp
NP_001394811.1:p.Ser957Asp
NP_001394813.1:p.Ser957Asp
NP_001394814.1:p.Ser957Asp
NP_001394815.1:p.Ser957Asp
NP_001394816.1:p.Ser957Asp
NP_001394818.1:p.Ser957Asp
NP_001394823.1:p.Ser956Asp
NP_001394824.1:p.Ser956Asp
NP_001394825.1:p.Ser956Asp
NP_001394826.1:p.Ser956Asp
NP_001394827.1:p.Ser956Asp
NP_001394828.1:p.Ser956Asp
NP_001394829.1:p.Ser957Asp
NP_001394831.1:p.Ser957Asp
NP_001394833.1:p.Ser957Asp
NP_001394835.1:p.Ser957Asp
NP_001394836.1:p.Ser957Asp
NP_001394837.1:p.Ser957Asp
NP_001394838.1:p.Ser957Asp
NP_001394839.1:p.Ser957Asp
NP_001394844.1:p.Ser956Asp
NP_001394845.1:p.Ser956Asp
NP_001394846.1:p.Ser956Asp
NP_001394847.1:p.Ser956Asp
NP_001394848.1:p.Ser986Asp
NP_001394849.1:p.Ser939Asp
NP_001394850.1:p.Ser939Asp
NP_001394851.1:p.Ser939Asp
NP_001394852.1:p.Ser939Asp
NP_001394853.1:p.Ser939Asp
NP_001394854.1:p.Ser939Asp
NP_001394855.1:p.Ser939Asp
NP_001394856.1:p.Ser939Asp
NP_001394857.1:p.Ser939Asp
NP_001394858.1:p.Ser939Asp
NP_001394859.1:p.Ser938Asp
NP_001394860.1:p.Ser938Asp
NP_001394861.1:p.Ser938Asp
NP_001394862.1:p.Ser939Asp
NP_001394863.1:p.Ser938Asp
NP_001394864.1:p.Ser939Asp
NP_001394865.1:p.Ser938Asp
NP_001394866.1:p.Ser986Asp
NP_001394867.1:p.Ser986Asp
NP_001394868.1:p.Ser986Asp
NP_001394869.1:p.Ser985Asp
NP_001394870.1:p.Ser985Asp
NP_001394871.1:p.Ser980Asp
NP_001394872.1:p.Ser979Asp
NP_001394873.1:p.Ser980Asp
NP_001394874.1:p.Ser980Asp
NP_001394875.1:p.Ser916Asp
NP_001394876.1:p.Ser916Asp
NP_001394877.1:p.Ser916Asp
NP_001394878.1:p.Ser916Asp
NP_001394879.1:p.Ser916Asp
NP_001394880.1:p.Ser916Asp
NP_001394881.1:p.Ser916Asp
NP_001394882.1:p.Ser916Asp
NP_001394883.1:p.Ser915Asp
NP_001394884.1:p.Ser915Asp
NP_001394885.1:p.Ser915Asp
NP_001394886.1:p.Ser916Asp
NP_001394887.1:p.Ser915Asp
NP_001394888.1:p.Ser900Asp
NP_001394889.1:p.Ser900Asp
NP_001394891.1:p.Ser899Asp
NP_001394892.1:p.Ser900Asp
NP_001394893.1:p.Ser979Asp
NP_001394894.1:p.Ser859Asp
NP_001394895.1:p.Ser731Asp
NP_001394896.1:p.Ser731Asp
NP_009225.1:p.Ser1027Asp
NP_009225.1:p.Ser1027Asp
NP_009228.2:p.Ser980Asp
NP_009231.2:p.Ser1027Asp
LRG_292t1:c.3079_3080delAGinsGA
LRG_292:g.125532_125533delinsGA
LRG_292p1:p.Ser1027Asp
NC_000017.10:g.41244468_41244469delinsTC
NM_007294.3:c.3079_3080delAGinsGA
NR_027676.1:n.3215_3216delAGinsGA

Protein change:

S1000D

Links:

dbSNP: rs1567793005

NCBI 1000 Genomes Browser:

rs1567793005

Molecular consequence:

NM_001407968.1:c.788-313_788-312delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.788-313_788-312delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.788-1420_788-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.788-1420_788-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.785-1420_785-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.788-1420_788-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.788-1420_788-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.788-1420_788-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.788-1420_788-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.788-1420_788-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.788-1420_788-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.788-1420_788-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.788-1420_788-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.788-1420_788-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.788-1420_788-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.788-1420_788-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.785-1420_785-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.785-1420_785-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.785-1420_785-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.788-1420_788-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.785-1420_785-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.785-1420_785-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.788-1420_788-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.785-1420_785-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.785-1420_785-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.785-1420_785-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.785-1420_785-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.785-1420_785-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.785-1420_785-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.785-1420_785-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.785-1420_785-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.788-1420_788-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.788-1420_788-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.791-1429_791-1428delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.785-1420_785-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.779-1420_779-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.710-1420_710-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.647-1420_647-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.710-1420_710-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.710-1420_710-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.707-1420_707-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.710-1420_710-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.710-1420_710-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.707-1420_707-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.671-1420_671-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.671-1420_671-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.671-1420_671-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.668-1420_668-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.671-1420_671-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.671-1420_671-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.668-1420_668-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.665-1420_665-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.665-1420_665-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.665-1420_665-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.665-1420_665-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.665-1420_665-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.665-1420_665-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.668-1420_668-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.662-1420_662-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.662-1420_662-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.662-1420_662-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.662-1420_662-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.665-1420_665-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.665-1420_665-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.665-1420_665-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.665-1420_665-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.665-1420_665-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.665-1420_665-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.665-1420_665-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.665-1420_665-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.665-1420_665-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.662-1420_662-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.662-1420_662-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.662-1420_662-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.662-1420_662-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.662-1420_662-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.653-1420_653-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.647-1420_647-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.647-1420_647-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.647-1420_647-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.647-1420_647-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.647-1420_647-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.647-1420_647-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.647-1420_647-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.647-1420_647-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.647-1420_647-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.647-1420_647-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.644-1420_644-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.644-1420_644-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.644-1420_644-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.644-1420_644-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.647-1420_647-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.647-1420_647-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.644-1420_644-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.647-1420_647-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.644-1420_644-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.788-1420_788-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.785-1420_785-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.587-1420_587-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.584-1420_584-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.587-1420_587-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.578-1420_578-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.578-1420_578-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.578-1420_578-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.578-1420_578-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.578-1420_578-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.578-1420_578-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.578-1420_578-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.578-1420_578-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.578-1420_578-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.575-1420_575-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.575-1420_575-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.578-1420_578-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.575-1420_575-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-1420_548-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-1420_545-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.524-1420_524-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.524-1420_524-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.524-1420_524-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.524-1420_524-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.524-1420_524-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.524-1420_524-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.455-1420_455-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.521-1420_521-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.521-1420_521-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.521-1420_521-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.461-1420_461-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.461-1420_461-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.452-1420_452-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.452-1420_452-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.407-1420_407-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-1420_404-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.284-1420_284-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.578-1420_578-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.578-1420_578-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.788-1420_788-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.788-1420_788-1419delinsGA - intron variant - [Sequence Ontology: SO:0001627]
NM_001407571.1:c.2866_2867delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407581.1:c.3079_3080delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407582.1:c.3079_3080delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407583.1:c.3079_3080delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407585.1:c.3079_3080delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407587.1:c.3076_3077delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407590.1:c.3076_3077delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407591.1:c.3076_3077delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407593.1:c.3079_3080delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407594.1:c.3079_3080delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407596.1:c.3079_3080delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407597.1:c.3079_3080delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407598.1:c.3079_3080delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407602.1:c.3079_3080delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407603.1:c.3079_3080delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407605.1:c.3079_3080delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407610.1:c.3076_3077delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407611.1:c.3076_3077delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407612.1:c.3076_3077delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407613.1:c.3076_3077delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407614.1:c.3076_3077delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407615.1:c.3076_3077delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407616.1:c.3079_3080delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407617.1:c.3079_3080delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407618.1:c.3079_3080delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407619.1:c.3079_3080delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407620.1:c.3079_3080delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407621.1:c.3079_3080delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407622.1:c.3079_3080delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407623.1:c.3079_3080delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407624.1:c.3079_3080delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407625.1:c.3079_3080delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407626.1:c.3079_3080delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407627.1:c.3076_3077delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407628.1:c.3076_3077delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407629.1:c.3076_3077delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407630.1:c.3076_3077delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407631.1:c.3076_3077delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407632.1:c.3076_3077delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407633.1:c.3076_3077delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407634.1:c.3076_3077delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407635.1:c.3076_3077delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407636.1:c.3076_3077delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407637.1:c.3076_3077delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407638.1:c.3076_3077delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407639.1:c.3079_3080delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407640.1:c.3079_3080delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407641.1:c.3079_3080delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407642.1:c.3079_3080delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407644.1:c.3076_3077delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407645.1:c.3076_3077delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407646.1:c.3070_3071delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407647.1:c.3070_3071delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407648.1:c.2956_2957delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407649.1:c.2953_2954delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407652.1:c.3079_3080delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407653.1:c.3001_3002delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407654.1:c.3001_3002delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407655.1:c.3001_3002delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407656.1:c.3001_3002delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407657.1:c.3001_3002delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407658.1:c.3001_3002delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407659.1:c.2998_2999delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407660.1:c.2998_2999delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407661.1:c.2998_2999delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407662.1:c.2998_2999delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407663.1:c.3001_3002delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407664.1:c.2956_2957delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407665.1:c.2956_2957delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407666.1:c.2956_2957delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407667.1:c.2956_2957delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407668.1:c.2956_2957delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407669.1:c.2956_2957delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407670.1:c.2953_2954delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407671.1:c.2953_2954delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407672.1:c.2953_2954delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407673.1:c.2953_2954delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407674.1:c.2956_2957delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407675.1:c.2956_2957delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407676.1:c.2956_2957delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407677.1:c.2956_2957delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407678.1:c.2956_2957delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407679.1:c.2956_2957delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407680.1:c.2956_2957delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407681.1:c.2956_2957delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407682.1:c.2956_2957delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407683.1:c.2956_2957delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407684.1:c.3079_3080delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407685.1:c.2953_2954delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407686.1:c.2953_2954delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407687.1:c.2953_2954delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407688.1:c.2953_2954delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407689.1:c.2953_2954delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407690.1:c.2953_2954delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407691.1:c.2953_2954delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407692.1:c.2938_2939delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407694.1:c.2938_2939delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407695.1:c.2938_2939delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407696.1:c.2938_2939delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407697.1:c.2938_2939delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407698.1:c.2938_2939delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407724.1:c.2938_2939delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407725.1:c.2938_2939delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407726.1:c.2938_2939delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407727.1:c.2938_2939delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407728.1:c.2938_2939delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407729.1:c.2938_2939delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407730.1:c.2938_2939delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407731.1:c.2938_2939delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407732.1:c.2938_2939delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407733.1:c.2938_2939delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407734.1:c.2938_2939delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407735.1:c.2938_2939delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407736.1:c.2938_2939delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407737.1:c.2938_2939delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407738.1:c.2938_2939delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407739.1:c.2938_2939delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407740.1:c.2935_2936delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407741.1:c.2935_2936delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407742.1:c.2935_2936delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407743.1:c.2935_2936delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407744.1:c.2935_2936delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407745.1:c.2935_2936delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407746.1:c.2935_2936delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407747.1:c.2935_2936delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407748.1:c.2935_2936delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407749.1:c.2935_2936delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407750.1:c.2938_2939delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407751.1:c.2938_2939delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407752.1:c.2938_2939delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407838.1:c.2935_2936delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407839.1:c.2935_2936delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407841.1:c.2935_2936delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407842.1:c.2935_2936delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407843.1:c.2935_2936delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407844.1:c.2935_2936delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407845.1:c.2935_2936delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407846.1:c.2935_2936delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407847.1:c.2935_2936delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407848.1:c.2935_2936delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407849.1:c.2935_2936delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407850.1:c.2938_2939delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407851.1:c.2938_2939delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407852.1:c.2938_2939delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407853.1:c.2866_2867delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407854.1:c.3079_3080delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407858.1:c.3079_3080delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407859.1:c.3079_3080delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407860.1:c.3076_3077delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407861.1:c.3076_3077delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407862.1:c.2878_2879delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407863.1:c.2956_2957delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407874.1:c.2875_2876delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407875.1:c.2875_2876delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407879.1:c.2869_2870delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407881.1:c.2869_2870delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407882.1:c.2869_2870delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407884.1:c.2869_2870delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407885.1:c.2869_2870delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407886.1:c.2869_2870delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407887.1:c.2869_2870delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407889.1:c.2869_2870delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407894.1:c.2866_2867delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407895.1:c.2866_2867delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407896.1:c.2866_2867delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407897.1:c.2866_2867delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407898.1:c.2866_2867delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407899.1:c.2866_2867delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407900.1:c.2869_2870delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407902.1:c.2869_2870delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407904.1:c.2869_2870delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407906.1:c.2869_2870delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407907.1:c.2869_2870delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407908.1:c.2869_2870delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407909.1:c.2869_2870delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407910.1:c.2869_2870delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407915.1:c.2866_2867delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407916.1:c.2866_2867delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407917.1:c.2866_2867delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407918.1:c.2866_2867delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407919.1:c.2956_2957delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407920.1:c.2815_2816delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407921.1:c.2815_2816delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407922.1:c.2815_2816delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407923.1:c.2815_2816delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407924.1:c.2815_2816delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407925.1:c.2815_2816delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407926.1:c.2815_2816delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407927.1:c.2815_2816delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407928.1:c.2815_2816delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407929.1:c.2815_2816delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407930.1:c.2812_2813delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407931.1:c.2812_2813delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407932.1:c.2812_2813delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407933.1:c.2815_2816delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407934.1:c.2812_2813delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407935.1:c.2815_2816delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407936.1:c.2812_2813delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407937.1:c.2956_2957delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407938.1:c.2956_2957delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407939.1:c.2956_2957delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407940.1:c.2953_2954delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407941.1:c.2953_2954delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407942.1:c.2938_2939delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407943.1:c.2935_2936delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407944.1:c.2938_2939delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407945.1:c.2938_2939delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407946.1:c.2746_2747delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407947.1:c.2746_2747delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407948.1:c.2746_2747delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407949.1:c.2746_2747delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407950.1:c.2746_2747delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407951.1:c.2746_2747delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407952.1:c.2746_2747delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407953.1:c.2746_2747delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407954.1:c.2743_2744delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407955.1:c.2743_2744delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407956.1:c.2743_2744delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407957.1:c.2746_2747delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407958.1:c.2743_2744delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407959.1:c.2698_2699delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407960.1:c.2698_2699delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407962.1:c.2695_2696delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407963.1:c.2698_2699delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407964.1:c.2935_2936delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407965.1:c.2575_2576delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407966.1:c.2191_2192delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_001407967.1:c.2191_2192delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_007294.4:c.3079_3080delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_007297.4:c.2938_2939delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_007300.4:c.3079_3080delinsGA - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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junction plakoglobin [Mus musculus]
junction plakoglobin [Mus musculus]
gi|28395018|ref|NP_034723.1|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003848023	University of Washington Department of Laboratory Medicine, University of Washington	criteria provided, single submitter (Dines et al. (Genet Med. 2020))	Likely benign (Mar 23, 2023)	germline	curation	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003848023

University of Washington Department of Laboratory Medicine, University of Washington

criteria provided, single submitter

(Dines et al. (Genet Med. 2020))

Likely benign
(Mar 23, 2023)

germline

curation

PubMed (1)
[See all records that cite this PMID]

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

Citations

PubMed

Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots".

Dines JN, Shirts BH, Slavin TP, Walsh T, King MC, Fowler DM, Pritchard CC.

Genet Med. 2020 May;22(5):825-830. doi: 10.1038/s41436-019-0740-6. Epub 2020 Jan 8.

PubMed [citation]

PMID:: 31911673
PMCID:: PMC7200594

Details of each submission

From University of Washington Department of Laboratory Medicine, University of Washington, SCV003848023.1

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

Description

Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).

#	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: May 7, 2024

ClinVar

Relating variation to medicine