NM_007294.4(BRCA1):c.2995_2996delinsTA (p.Leu999Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 31, 2018
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:: RCV000164626.12

Allele description [Variation Report for NM_007294.4(BRCA1):c.2995_2996delinsTA (p.Leu999Ter)]

NM_007294.4(BRCA1):c.2995_2996delinsTA (p.Leu999Ter)

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.2995_2996delinsTA (p.Leu999Ter)

Other names:

p.L999X:CTA>TAA

HGVS:

NC_000017.11:g.43092535_43092536delinsTA
NG_005905.2:g.125448_125449delinsTA
NM_001407571.1:c.2782_2783delinsTA
NM_001407581.1:c.2995_2996delinsTA
NM_001407582.1:c.2995_2996delinsTA
NM_001407583.1:c.2995_2996delinsTA
NM_001407585.1:c.2995_2996delinsTA
NM_001407587.1:c.2992_2993delinsTA
NM_001407590.1:c.2992_2993delinsTA
NM_001407591.1:c.2992_2993delinsTA
NM_001407593.1:c.2995_2996delinsTA
NM_001407594.1:c.2995_2996delinsTA
NM_001407596.1:c.2995_2996delinsTA
NM_001407597.1:c.2995_2996delinsTA
NM_001407598.1:c.2995_2996delinsTA
NM_001407602.1:c.2995_2996delinsTA
NM_001407603.1:c.2995_2996delinsTA
NM_001407605.1:c.2995_2996delinsTA
NM_001407610.1:c.2992_2993delinsTA
NM_001407611.1:c.2992_2993delinsTA
NM_001407612.1:c.2992_2993delinsTA
NM_001407613.1:c.2992_2993delinsTA
NM_001407614.1:c.2992_2993delinsTA
NM_001407615.1:c.2992_2993delinsTA
NM_001407616.1:c.2995_2996delinsTA
NM_001407617.1:c.2995_2996delinsTA
NM_001407618.1:c.2995_2996delinsTA
NM_001407619.1:c.2995_2996delinsTA
NM_001407620.1:c.2995_2996delinsTA
NM_001407621.1:c.2995_2996delinsTA
NM_001407622.1:c.2995_2996delinsTA
NM_001407623.1:c.2995_2996delinsTA
NM_001407624.1:c.2995_2996delinsTA
NM_001407625.1:c.2995_2996delinsTA
NM_001407626.1:c.2995_2996delinsTA
NM_001407627.1:c.2992_2993delinsTA
NM_001407628.1:c.2992_2993delinsTA
NM_001407629.1:c.2992_2993delinsTA
NM_001407630.1:c.2992_2993delinsTA
NM_001407631.1:c.2992_2993delinsTA
NM_001407632.1:c.2992_2993delinsTA
NM_001407633.1:c.2992_2993delinsTA
NM_001407634.1:c.2992_2993delinsTA
NM_001407635.1:c.2992_2993delinsTA
NM_001407636.1:c.2992_2993delinsTA
NM_001407637.1:c.2992_2993delinsTA
NM_001407638.1:c.2992_2993delinsTA
NM_001407639.1:c.2995_2996delinsTA
NM_001407640.1:c.2995_2996delinsTA
NM_001407641.1:c.2995_2996delinsTA
NM_001407642.1:c.2995_2996delinsTA
NM_001407644.1:c.2992_2993delinsTA
NM_001407645.1:c.2992_2993delinsTA
NM_001407646.1:c.2986_2987delinsTA
NM_001407647.1:c.2986_2987delinsTA
NM_001407648.1:c.2872_2873delinsTA
NM_001407649.1:c.2869_2870delinsTA
NM_001407652.1:c.2995_2996delinsTA
NM_001407653.1:c.2917_2918delinsTA
NM_001407654.1:c.2917_2918delinsTA
NM_001407655.1:c.2917_2918delinsTA
NM_001407656.1:c.2917_2918delinsTA
NM_001407657.1:c.2917_2918delinsTA
NM_001407658.1:c.2917_2918delinsTA
NM_001407659.1:c.2914_2915delinsTA
NM_001407660.1:c.2914_2915delinsTA
NM_001407661.1:c.2914_2915delinsTA
NM_001407662.1:c.2914_2915delinsTA
NM_001407663.1:c.2917_2918delinsTA
NM_001407664.1:c.2872_2873delinsTA
NM_001407665.1:c.2872_2873delinsTA
NM_001407666.1:c.2872_2873delinsTA
NM_001407667.1:c.2872_2873delinsTA
NM_001407668.1:c.2872_2873delinsTA
NM_001407669.1:c.2872_2873delinsTA
NM_001407670.1:c.2869_2870delinsTA
NM_001407671.1:c.2869_2870delinsTA
NM_001407672.1:c.2869_2870delinsTA
NM_001407673.1:c.2869_2870delinsTA
NM_001407674.1:c.2872_2873delinsTA
NM_001407675.1:c.2872_2873delinsTA
NM_001407676.1:c.2872_2873delinsTA
NM_001407677.1:c.2872_2873delinsTA
NM_001407678.1:c.2872_2873delinsTA
NM_001407679.1:c.2872_2873delinsTA
NM_001407680.1:c.2872_2873delinsTA
NM_001407681.1:c.2872_2873delinsTA
NM_001407682.1:c.2872_2873delinsTA
NM_001407683.1:c.2872_2873delinsTA
NM_001407684.1:c.2995_2996delinsTA
NM_001407685.1:c.2869_2870delinsTA
NM_001407686.1:c.2869_2870delinsTA
NM_001407687.1:c.2869_2870delinsTA
NM_001407688.1:c.2869_2870delinsTA
NM_001407689.1:c.2869_2870delinsTA
NM_001407690.1:c.2869_2870delinsTA
NM_001407691.1:c.2869_2870delinsTA
NM_001407692.1:c.2854_2855delinsTA
NM_001407694.1:c.2854_2855delinsTA
NM_001407695.1:c.2854_2855delinsTA
NM_001407696.1:c.2854_2855delinsTA
NM_001407697.1:c.2854_2855delinsTA
NM_001407698.1:c.2854_2855delinsTA
NM_001407724.1:c.2854_2855delinsTA
NM_001407725.1:c.2854_2855delinsTA
NM_001407726.1:c.2854_2855delinsTA
NM_001407727.1:c.2854_2855delinsTA
NM_001407728.1:c.2854_2855delinsTA
NM_001407729.1:c.2854_2855delinsTA
NM_001407730.1:c.2854_2855delinsTA
NM_001407731.1:c.2854_2855delinsTA
NM_001407732.1:c.2854_2855delinsTA
NM_001407733.1:c.2854_2855delinsTA
NM_001407734.1:c.2854_2855delinsTA
NM_001407735.1:c.2854_2855delinsTA
NM_001407736.1:c.2854_2855delinsTA
NM_001407737.1:c.2854_2855delinsTA
NM_001407738.1:c.2854_2855delinsTA
NM_001407739.1:c.2854_2855delinsTA
NM_001407740.1:c.2851_2852delinsTA
NM_001407741.1:c.2851_2852delinsTA
NM_001407742.1:c.2851_2852delinsTA
NM_001407743.1:c.2851_2852delinsTA
NM_001407744.1:c.2851_2852delinsTA
NM_001407745.1:c.2851_2852delinsTA
NM_001407746.1:c.2851_2852delinsTA
NM_001407747.1:c.2851_2852delinsTA
NM_001407748.1:c.2851_2852delinsTA
NM_001407749.1:c.2851_2852delinsTA
NM_001407750.1:c.2854_2855delinsTA
NM_001407751.1:c.2854_2855delinsTA
NM_001407752.1:c.2854_2855delinsTA
NM_001407838.1:c.2851_2852delinsTA
NM_001407839.1:c.2851_2852delinsTA
NM_001407841.1:c.2851_2852delinsTA
NM_001407842.1:c.2851_2852delinsTA
NM_001407843.1:c.2851_2852delinsTA
NM_001407844.1:c.2851_2852delinsTA
NM_001407845.1:c.2851_2852delinsTA
NM_001407846.1:c.2851_2852delinsTA
NM_001407847.1:c.2851_2852delinsTA
NM_001407848.1:c.2851_2852delinsTA
NM_001407849.1:c.2851_2852delinsTA
NM_001407850.1:c.2854_2855delinsTA
NM_001407851.1:c.2854_2855delinsTA
NM_001407852.1:c.2854_2855delinsTA
NM_001407853.1:c.2782_2783delinsTA
NM_001407854.1:c.2995_2996delinsTA
NM_001407858.1:c.2995_2996delinsTA
NM_001407859.1:c.2995_2996delinsTA
NM_001407860.1:c.2992_2993delinsTA
NM_001407861.1:c.2992_2993delinsTA
NM_001407862.1:c.2794_2795delinsTA
NM_001407863.1:c.2872_2873delinsTA
NM_001407874.1:c.2791_2792delinsTA
NM_001407875.1:c.2791_2792delinsTA
NM_001407879.1:c.2785_2786delinsTA
NM_001407881.1:c.2785_2786delinsTA
NM_001407882.1:c.2785_2786delinsTA
NM_001407884.1:c.2785_2786delinsTA
NM_001407885.1:c.2785_2786delinsTA
NM_001407886.1:c.2785_2786delinsTA
NM_001407887.1:c.2785_2786delinsTA
NM_001407889.1:c.2785_2786delinsTA
NM_001407894.1:c.2782_2783delinsTA
NM_001407895.1:c.2782_2783delinsTA
NM_001407896.1:c.2782_2783delinsTA
NM_001407897.1:c.2782_2783delinsTA
NM_001407898.1:c.2782_2783delinsTA
NM_001407899.1:c.2782_2783delinsTA
NM_001407900.1:c.2785_2786delinsTA
NM_001407902.1:c.2785_2786delinsTA
NM_001407904.1:c.2785_2786delinsTA
NM_001407906.1:c.2785_2786delinsTA
NM_001407907.1:c.2785_2786delinsTA
NM_001407908.1:c.2785_2786delinsTA
NM_001407909.1:c.2785_2786delinsTA
NM_001407910.1:c.2785_2786delinsTA
NM_001407915.1:c.2782_2783delinsTA
NM_001407916.1:c.2782_2783delinsTA
NM_001407917.1:c.2782_2783delinsTA
NM_001407918.1:c.2782_2783delinsTA
NM_001407919.1:c.2872_2873delinsTA
NM_001407920.1:c.2731_2732delinsTA
NM_001407921.1:c.2731_2732delinsTA
NM_001407922.1:c.2731_2732delinsTA
NM_001407923.1:c.2731_2732delinsTA
NM_001407924.1:c.2731_2732delinsTA
NM_001407925.1:c.2731_2732delinsTA
NM_001407926.1:c.2731_2732delinsTA
NM_001407927.1:c.2731_2732delinsTA
NM_001407928.1:c.2731_2732delinsTA
NM_001407929.1:c.2731_2732delinsTA
NM_001407930.1:c.2728_2729delinsTA
NM_001407931.1:c.2728_2729delinsTA
NM_001407932.1:c.2728_2729delinsTA
NM_001407933.1:c.2731_2732delinsTA
NM_001407934.1:c.2728_2729delinsTA
NM_001407935.1:c.2731_2732delinsTA
NM_001407936.1:c.2728_2729delinsTA
NM_001407937.1:c.2872_2873delinsTA
NM_001407938.1:c.2872_2873delinsTA
NM_001407939.1:c.2872_2873delinsTA
NM_001407940.1:c.2869_2870delinsTA
NM_001407941.1:c.2869_2870delinsTA
NM_001407942.1:c.2854_2855delinsTA
NM_001407943.1:c.2851_2852delinsTA
NM_001407944.1:c.2854_2855delinsTA
NM_001407945.1:c.2854_2855delinsTA
NM_001407946.1:c.2662_2663delinsTA
NM_001407947.1:c.2662_2663delinsTA
NM_001407948.1:c.2662_2663delinsTA
NM_001407949.1:c.2662_2663delinsTA
NM_001407950.1:c.2662_2663delinsTA
NM_001407951.1:c.2662_2663delinsTA
NM_001407952.1:c.2662_2663delinsTA
NM_001407953.1:c.2662_2663delinsTA
NM_001407954.1:c.2659_2660delinsTA
NM_001407955.1:c.2659_2660delinsTA
NM_001407956.1:c.2659_2660delinsTA
NM_001407957.1:c.2662_2663delinsTA
NM_001407958.1:c.2659_2660delinsTA
NM_001407959.1:c.2614_2615delinsTA
NM_001407960.1:c.2614_2615delinsTA
NM_001407962.1:c.2611_2612delinsTA
NM_001407963.1:c.2614_2615delinsTA
NM_001407964.1:c.2851_2852delinsTA
NM_001407965.1:c.2491_2492delinsTA
NM_001407966.1:c.2107_2108delinsTA
NM_001407967.1:c.2107_2108delinsTA
NM_001407968.1:c.788-397_788-396delinsTA
NM_001407969.1:c.788-397_788-396delinsTA
NM_001407970.1:c.788-1504_788-1503delinsTA
NM_001407971.1:c.788-1504_788-1503delinsTA
NM_001407972.1:c.785-1504_785-1503delinsTA
NM_001407973.1:c.788-1504_788-1503delinsTA
NM_001407974.1:c.788-1504_788-1503delinsTA
NM_001407975.1:c.788-1504_788-1503delinsTA
NM_001407976.1:c.788-1504_788-1503delinsTA
NM_001407977.1:c.788-1504_788-1503delinsTA
NM_001407978.1:c.788-1504_788-1503delinsTA
NM_001407979.1:c.788-1504_788-1503delinsTA
NM_001407980.1:c.788-1504_788-1503delinsTA
NM_001407981.1:c.788-1504_788-1503delinsTA
NM_001407982.1:c.788-1504_788-1503delinsTA
NM_001407983.1:c.788-1504_788-1503delinsTA
NM_001407984.1:c.785-1504_785-1503delinsTA
NM_001407985.1:c.785-1504_785-1503delinsTA
NM_001407986.1:c.785-1504_785-1503delinsTA
NM_001407990.1:c.788-1504_788-1503delinsTA
NM_001407991.1:c.785-1504_785-1503delinsTA
NM_001407992.1:c.785-1504_785-1503delinsTA
NM_001407993.1:c.788-1504_788-1503delinsTA
NM_001408392.1:c.785-1504_785-1503delinsTA
NM_001408396.1:c.785-1504_785-1503delinsTA
NM_001408397.1:c.785-1504_785-1503delinsTA
NM_001408398.1:c.785-1504_785-1503delinsTA
NM_001408399.1:c.785-1504_785-1503delinsTA
NM_001408400.1:c.785-1504_785-1503delinsTA
NM_001408401.1:c.785-1504_785-1503delinsTA
NM_001408402.1:c.785-1504_785-1503delinsTA
NM_001408403.1:c.788-1504_788-1503delinsTA
NM_001408404.1:c.788-1504_788-1503delinsTA
NM_001408406.1:c.791-1513_791-1512delinsTA
NM_001408407.1:c.785-1504_785-1503delinsTA
NM_001408408.1:c.779-1504_779-1503delinsTA
NM_001408409.1:c.710-1504_710-1503delinsTA
NM_001408410.1:c.647-1504_647-1503delinsTA
NM_001408411.1:c.710-1504_710-1503delinsTA
NM_001408412.1:c.710-1504_710-1503delinsTA
NM_001408413.1:c.707-1504_707-1503delinsTA
NM_001408414.1:c.710-1504_710-1503delinsTA
NM_001408415.1:c.710-1504_710-1503delinsTA
NM_001408416.1:c.707-1504_707-1503delinsTA
NM_001408418.1:c.671-1504_671-1503delinsTA
NM_001408419.1:c.671-1504_671-1503delinsTA
NM_001408420.1:c.671-1504_671-1503delinsTA
NM_001408421.1:c.668-1504_668-1503delinsTA
NM_001408422.1:c.671-1504_671-1503delinsTA
NM_001408423.1:c.671-1504_671-1503delinsTA
NM_001408424.1:c.668-1504_668-1503delinsTA
NM_001408425.1:c.665-1504_665-1503delinsTA
NM_001408426.1:c.665-1504_665-1503delinsTA
NM_001408427.1:c.665-1504_665-1503delinsTA
NM_001408428.1:c.665-1504_665-1503delinsTA
NM_001408429.1:c.665-1504_665-1503delinsTA
NM_001408430.1:c.665-1504_665-1503delinsTA
NM_001408431.1:c.668-1504_668-1503delinsTA
NM_001408432.1:c.662-1504_662-1503delinsTA
NM_001408433.1:c.662-1504_662-1503delinsTA
NM_001408434.1:c.662-1504_662-1503delinsTA
NM_001408435.1:c.662-1504_662-1503delinsTA
NM_001408436.1:c.665-1504_665-1503delinsTA
NM_001408437.1:c.665-1504_665-1503delinsTA
NM_001408438.1:c.665-1504_665-1503delinsTA
NM_001408439.1:c.665-1504_665-1503delinsTA
NM_001408440.1:c.665-1504_665-1503delinsTA
NM_001408441.1:c.665-1504_665-1503delinsTA
NM_001408442.1:c.665-1504_665-1503delinsTA
NM_001408443.1:c.665-1504_665-1503delinsTA
NM_001408444.1:c.665-1504_665-1503delinsTA
NM_001408445.1:c.662-1504_662-1503delinsTA
NM_001408446.1:c.662-1504_662-1503delinsTA
NM_001408447.1:c.662-1504_662-1503delinsTA
NM_001408448.1:c.662-1504_662-1503delinsTA
NM_001408450.1:c.662-1504_662-1503delinsTA
NM_001408451.1:c.653-1504_653-1503delinsTA
NM_001408452.1:c.647-1504_647-1503delinsTA
NM_001408453.1:c.647-1504_647-1503delinsTA
NM_001408454.1:c.647-1504_647-1503delinsTA
NM_001408455.1:c.647-1504_647-1503delinsTA
NM_001408456.1:c.647-1504_647-1503delinsTA
NM_001408457.1:c.647-1504_647-1503delinsTA
NM_001408458.1:c.647-1504_647-1503delinsTA
NM_001408459.1:c.647-1504_647-1503delinsTA
NM_001408460.1:c.647-1504_647-1503delinsTA
NM_001408461.1:c.647-1504_647-1503delinsTA
NM_001408462.1:c.644-1504_644-1503delinsTA
NM_001408463.1:c.644-1504_644-1503delinsTA
NM_001408464.1:c.644-1504_644-1503delinsTA
NM_001408465.1:c.644-1504_644-1503delinsTA
NM_001408466.1:c.647-1504_647-1503delinsTA
NM_001408467.1:c.647-1504_647-1503delinsTA
NM_001408468.1:c.644-1504_644-1503delinsTA
NM_001408469.1:c.647-1504_647-1503delinsTA
NM_001408470.1:c.644-1504_644-1503delinsTA
NM_001408472.1:c.788-1504_788-1503delinsTA
NM_001408473.1:c.785-1504_785-1503delinsTA
NM_001408474.1:c.587-1504_587-1503delinsTA
NM_001408475.1:c.584-1504_584-1503delinsTA
NM_001408476.1:c.587-1504_587-1503delinsTA
NM_001408478.1:c.578-1504_578-1503delinsTA
NM_001408479.1:c.578-1504_578-1503delinsTA
NM_001408480.1:c.578-1504_578-1503delinsTA
NM_001408481.1:c.578-1504_578-1503delinsTA
NM_001408482.1:c.578-1504_578-1503delinsTA
NM_001408483.1:c.578-1504_578-1503delinsTA
NM_001408484.1:c.578-1504_578-1503delinsTA
NM_001408485.1:c.578-1504_578-1503delinsTA
NM_001408489.1:c.578-1504_578-1503delinsTA
NM_001408490.1:c.575-1504_575-1503delinsTA
NM_001408491.1:c.575-1504_575-1503delinsTA
NM_001408492.1:c.578-1504_578-1503delinsTA
NM_001408493.1:c.575-1504_575-1503delinsTA
NM_001408494.1:c.548-1504_548-1503delinsTA
NM_001408495.1:c.545-1504_545-1503delinsTA
NM_001408496.1:c.524-1504_524-1503delinsTA
NM_001408497.1:c.524-1504_524-1503delinsTA
NM_001408498.1:c.524-1504_524-1503delinsTA
NM_001408499.1:c.524-1504_524-1503delinsTA
NM_001408500.1:c.524-1504_524-1503delinsTA
NM_001408501.1:c.524-1504_524-1503delinsTA
NM_001408502.1:c.455-1504_455-1503delinsTA
NM_001408503.1:c.521-1504_521-1503delinsTA
NM_001408504.1:c.521-1504_521-1503delinsTA
NM_001408505.1:c.521-1504_521-1503delinsTA
NM_001408506.1:c.461-1504_461-1503delinsTA
NM_001408507.1:c.461-1504_461-1503delinsTA
NM_001408508.1:c.452-1504_452-1503delinsTA
NM_001408509.1:c.452-1504_452-1503delinsTA
NM_001408510.1:c.407-1504_407-1503delinsTA
NM_001408511.1:c.404-1504_404-1503delinsTA
NM_001408512.1:c.284-1504_284-1503delinsTA
NM_001408513.1:c.578-1504_578-1503delinsTA
NM_001408514.1:c.578-1504_578-1503delinsTA
NM_007294.4:c.2995_2996delinsTAMANE SELECT
NM_007297.4:c.2854_2855delinsTA
NM_007298.4:c.788-1504_788-1503delinsTA
NM_007299.4:c.788-1504_788-1503delinsTA
NM_007300.4:c.2995_2996delinsTA
NP_001394500.1:p.Leu928Ter
NP_001394510.1:p.Leu999Ter
NP_001394511.1:p.Leu999Ter
NP_001394512.1:p.Leu999Ter
NP_001394514.1:p.Leu999Ter
NP_001394516.1:p.Leu998Ter
NP_001394519.1:p.Leu998Ter
NP_001394520.1:p.Leu998Ter
NP_001394522.1:p.Leu999Ter
NP_001394523.1:p.Leu999Ter
NP_001394525.1:p.Leu999Ter
NP_001394526.1:p.Leu999Ter
NP_001394527.1:p.Leu999Ter
NP_001394531.1:p.Leu999Ter
NP_001394532.1:p.Leu999Ter
NP_001394534.1:p.Leu999Ter
NP_001394539.1:p.Leu998Ter
NP_001394540.1:p.Leu998Ter
NP_001394541.1:p.Leu998Ter
NP_001394542.1:p.Leu998Ter
NP_001394543.1:p.Leu998Ter
NP_001394544.1:p.Leu998Ter
NP_001394545.1:p.Leu999Ter
NP_001394546.1:p.Leu999Ter
NP_001394547.1:p.Leu999Ter
NP_001394548.1:p.Leu999Ter
NP_001394549.1:p.Leu999Ter
NP_001394550.1:p.Leu999Ter
NP_001394551.1:p.Leu999Ter
NP_001394552.1:p.Leu999Ter
NP_001394553.1:p.Leu999Ter
NP_001394554.1:p.Leu999Ter
NP_001394555.1:p.Leu999Ter
NP_001394556.1:p.Leu998Ter
NP_001394557.1:p.Leu998Ter
NP_001394558.1:p.Leu998Ter
NP_001394559.1:p.Leu998Ter
NP_001394560.1:p.Leu998Ter
NP_001394561.1:p.Leu998Ter
NP_001394562.1:p.Leu998Ter
NP_001394563.1:p.Leu998Ter
NP_001394564.1:p.Leu998Ter
NP_001394565.1:p.Leu998Ter
NP_001394566.1:p.Leu998Ter
NP_001394567.1:p.Leu998Ter
NP_001394568.1:p.Leu999Ter
NP_001394569.1:p.Leu999Ter
NP_001394570.1:p.Leu999Ter
NP_001394571.1:p.Leu999Ter
NP_001394573.1:p.Leu998Ter
NP_001394574.1:p.Leu998Ter
NP_001394575.1:p.Leu996Ter
NP_001394576.1:p.Leu996Ter
NP_001394577.1:p.Leu958Ter
NP_001394578.1:p.Leu957Ter
NP_001394581.1:p.Leu999Ter
NP_001394582.1:p.Leu973Ter
NP_001394583.1:p.Leu973Ter
NP_001394584.1:p.Leu973Ter
NP_001394585.1:p.Leu973Ter
NP_001394586.1:p.Leu973Ter
NP_001394587.1:p.Leu973Ter
NP_001394588.1:p.Leu972Ter
NP_001394589.1:p.Leu972Ter
NP_001394590.1:p.Leu972Ter
NP_001394591.1:p.Leu972Ter
NP_001394592.1:p.Leu973Ter
NP_001394593.1:p.Leu958Ter
NP_001394594.1:p.Leu958Ter
NP_001394595.1:p.Leu958Ter
NP_001394596.1:p.Leu958Ter
NP_001394597.1:p.Leu958Ter
NP_001394598.1:p.Leu958Ter
NP_001394599.1:p.Leu957Ter
NP_001394600.1:p.Leu957Ter
NP_001394601.1:p.Leu957Ter
NP_001394602.1:p.Leu957Ter
NP_001394603.1:p.Leu958Ter
NP_001394604.1:p.Leu958Ter
NP_001394605.1:p.Leu958Ter
NP_001394606.1:p.Leu958Ter
NP_001394607.1:p.Leu958Ter
NP_001394608.1:p.Leu958Ter
NP_001394609.1:p.Leu958Ter
NP_001394610.1:p.Leu958Ter
NP_001394611.1:p.Leu958Ter
NP_001394612.1:p.Leu958Ter
NP_001394613.1:p.Leu999Ter
NP_001394614.1:p.Leu957Ter
NP_001394615.1:p.Leu957Ter
NP_001394616.1:p.Leu957Ter
NP_001394617.1:p.Leu957Ter
NP_001394618.1:p.Leu957Ter
NP_001394619.1:p.Leu957Ter
NP_001394620.1:p.Leu957Ter
NP_001394621.1:p.Leu952Ter
NP_001394623.1:p.Leu952Ter
NP_001394624.1:p.Leu952Ter
NP_001394625.1:p.Leu952Ter
NP_001394626.1:p.Leu952Ter
NP_001394627.1:p.Leu952Ter
NP_001394653.1:p.Leu952Ter
NP_001394654.1:p.Leu952Ter
NP_001394655.1:p.Leu952Ter
NP_001394656.1:p.Leu952Ter
NP_001394657.1:p.Leu952Ter
NP_001394658.1:p.Leu952Ter
NP_001394659.1:p.Leu952Ter
NP_001394660.1:p.Leu952Ter
NP_001394661.1:p.Leu952Ter
NP_001394662.1:p.Leu952Ter
NP_001394663.1:p.Leu952Ter
NP_001394664.1:p.Leu952Ter
NP_001394665.1:p.Leu952Ter
NP_001394666.1:p.Leu952Ter
NP_001394667.1:p.Leu952Ter
NP_001394668.1:p.Leu952Ter
NP_001394669.1:p.Leu951Ter
NP_001394670.1:p.Leu951Ter
NP_001394671.1:p.Leu951Ter
NP_001394672.1:p.Leu951Ter
NP_001394673.1:p.Leu951Ter
NP_001394674.1:p.Leu951Ter
NP_001394675.1:p.Leu951Ter
NP_001394676.1:p.Leu951Ter
NP_001394677.1:p.Leu951Ter
NP_001394678.1:p.Leu951Ter
NP_001394679.1:p.Leu952Ter
NP_001394680.1:p.Leu952Ter
NP_001394681.1:p.Leu952Ter
NP_001394767.1:p.Leu951Ter
NP_001394768.1:p.Leu951Ter
NP_001394770.1:p.Leu951Ter
NP_001394771.1:p.Leu951Ter
NP_001394772.1:p.Leu951Ter
NP_001394773.1:p.Leu951Ter
NP_001394774.1:p.Leu951Ter
NP_001394775.1:p.Leu951Ter
NP_001394776.1:p.Leu951Ter
NP_001394777.1:p.Leu951Ter
NP_001394778.1:p.Leu951Ter
NP_001394779.1:p.Leu952Ter
NP_001394780.1:p.Leu952Ter
NP_001394781.1:p.Leu952Ter
NP_001394782.1:p.Leu928Ter
NP_001394783.1:p.Leu999Ter
NP_001394787.1:p.Leu999Ter
NP_001394788.1:p.Leu999Ter
NP_001394789.1:p.Leu998Ter
NP_001394790.1:p.Leu998Ter
NP_001394791.1:p.Leu932Ter
NP_001394792.1:p.Leu958Ter
NP_001394803.1:p.Leu931Ter
NP_001394804.1:p.Leu931Ter
NP_001394808.1:p.Leu929Ter
NP_001394810.1:p.Leu929Ter
NP_001394811.1:p.Leu929Ter
NP_001394813.1:p.Leu929Ter
NP_001394814.1:p.Leu929Ter
NP_001394815.1:p.Leu929Ter
NP_001394816.1:p.Leu929Ter
NP_001394818.1:p.Leu929Ter
NP_001394823.1:p.Leu928Ter
NP_001394824.1:p.Leu928Ter
NP_001394825.1:p.Leu928Ter
NP_001394826.1:p.Leu928Ter
NP_001394827.1:p.Leu928Ter
NP_001394828.1:p.Leu928Ter
NP_001394829.1:p.Leu929Ter
NP_001394831.1:p.Leu929Ter
NP_001394833.1:p.Leu929Ter
NP_001394835.1:p.Leu929Ter
NP_001394836.1:p.Leu929Ter
NP_001394837.1:p.Leu929Ter
NP_001394838.1:p.Leu929Ter
NP_001394839.1:p.Leu929Ter
NP_001394844.1:p.Leu928Ter
NP_001394845.1:p.Leu928Ter
NP_001394846.1:p.Leu928Ter
NP_001394847.1:p.Leu928Ter
NP_001394848.1:p.Leu958Ter
NP_001394849.1:p.Leu911Ter
NP_001394850.1:p.Leu911Ter
NP_001394851.1:p.Leu911Ter
NP_001394852.1:p.Leu911Ter
NP_001394853.1:p.Leu911Ter
NP_001394854.1:p.Leu911Ter
NP_001394855.1:p.Leu911Ter
NP_001394856.1:p.Leu911Ter
NP_001394857.1:p.Leu911Ter
NP_001394858.1:p.Leu911Ter
NP_001394859.1:p.Leu910Ter
NP_001394860.1:p.Leu910Ter
NP_001394861.1:p.Leu910Ter
NP_001394862.1:p.Leu911Ter
NP_001394863.1:p.Leu910Ter
NP_001394864.1:p.Leu911Ter
NP_001394865.1:p.Leu910Ter
NP_001394866.1:p.Leu958Ter
NP_001394867.1:p.Leu958Ter
NP_001394868.1:p.Leu958Ter
NP_001394869.1:p.Leu957Ter
NP_001394870.1:p.Leu957Ter
NP_001394871.1:p.Leu952Ter
NP_001394872.1:p.Leu951Ter
NP_001394873.1:p.Leu952Ter
NP_001394874.1:p.Leu952Ter
NP_001394875.1:p.Leu888Ter
NP_001394876.1:p.Leu888Ter
NP_001394877.1:p.Leu888Ter
NP_001394878.1:p.Leu888Ter
NP_001394879.1:p.Leu888Ter
NP_001394880.1:p.Leu888Ter
NP_001394881.1:p.Leu888Ter
NP_001394882.1:p.Leu888Ter
NP_001394883.1:p.Leu887Ter
NP_001394884.1:p.Leu887Ter
NP_001394885.1:p.Leu887Ter
NP_001394886.1:p.Leu888Ter
NP_001394887.1:p.Leu887Ter
NP_001394888.1:p.Leu872Ter
NP_001394889.1:p.Leu872Ter
NP_001394891.1:p.Leu871Ter
NP_001394892.1:p.Leu872Ter
NP_001394893.1:p.Leu951Ter
NP_001394894.1:p.Leu831Ter
NP_001394895.1:p.Leu703Ter
NP_001394896.1:p.Leu703Ter
NP_009225.1:p.Leu999Ter
NP_009225.1:p.Leu999Ter
NP_009228.2:p.Leu952Ter
NP_009231.2:p.Leu999Ter
LRG_292t1:c.2995_2996delCTinsTA
LRG_292:g.125448_125449delinsTA
LRG_292p1:p.Leu999Ter
NC_000017.10:g.41244552_41244553delinsTA
NM_007294.3:c.2995_2996delCTinsTA
NM_007294.3:c.2995_2996delCTinsTA
NR_027676.1:n.3131_3132delCTinsTA
U14680.1:n.3114_3115delCTinsTA

Protein change:

L703*

Links:

dbSNP: rs273899692

NCBI 1000 Genomes Browser:

rs273899692

Molecular consequence:

NM_001407968.1:c.788-397_788-396delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.788-397_788-396delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.788-1504_788-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.788-1504_788-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.785-1504_785-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.788-1504_788-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.788-1504_788-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.788-1504_788-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.788-1504_788-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.788-1504_788-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.788-1504_788-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.788-1504_788-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.788-1504_788-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.788-1504_788-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.788-1504_788-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.788-1504_788-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.785-1504_785-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.785-1504_785-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.785-1504_785-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.788-1504_788-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.785-1504_785-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.785-1504_785-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.788-1504_788-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.785-1504_785-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.785-1504_785-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.785-1504_785-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.785-1504_785-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.785-1504_785-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.785-1504_785-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.785-1504_785-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.785-1504_785-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.788-1504_788-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.788-1504_788-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.791-1513_791-1512delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.785-1504_785-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.779-1504_779-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.710-1504_710-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.647-1504_647-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.710-1504_710-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.710-1504_710-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.707-1504_707-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.710-1504_710-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.710-1504_710-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.707-1504_707-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.671-1504_671-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.671-1504_671-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.671-1504_671-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.668-1504_668-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.671-1504_671-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.671-1504_671-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.668-1504_668-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.665-1504_665-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.665-1504_665-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.665-1504_665-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.665-1504_665-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.665-1504_665-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.665-1504_665-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.668-1504_668-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.662-1504_662-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.662-1504_662-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.662-1504_662-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.662-1504_662-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.665-1504_665-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.665-1504_665-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.665-1504_665-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.665-1504_665-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.665-1504_665-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.665-1504_665-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.665-1504_665-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.665-1504_665-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.665-1504_665-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.662-1504_662-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.662-1504_662-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.662-1504_662-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.662-1504_662-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.662-1504_662-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.653-1504_653-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.647-1504_647-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.647-1504_647-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.647-1504_647-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.647-1504_647-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.647-1504_647-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.647-1504_647-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.647-1504_647-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.647-1504_647-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.647-1504_647-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.647-1504_647-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.644-1504_644-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.644-1504_644-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.644-1504_644-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.644-1504_644-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.647-1504_647-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.647-1504_647-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.644-1504_644-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.647-1504_647-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.644-1504_644-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.788-1504_788-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.785-1504_785-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.587-1504_587-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.584-1504_584-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.587-1504_587-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.578-1504_578-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.578-1504_578-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.578-1504_578-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.578-1504_578-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.578-1504_578-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.578-1504_578-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.578-1504_578-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.578-1504_578-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.578-1504_578-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.575-1504_575-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.575-1504_575-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.578-1504_578-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.575-1504_575-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-1504_548-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-1504_545-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.524-1504_524-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.524-1504_524-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.524-1504_524-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.524-1504_524-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.524-1504_524-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.524-1504_524-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.455-1504_455-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.521-1504_521-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.521-1504_521-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.521-1504_521-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.461-1504_461-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.461-1504_461-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.452-1504_452-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.452-1504_452-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.407-1504_407-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-1504_404-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.284-1504_284-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.578-1504_578-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.578-1504_578-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.788-1504_788-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.788-1504_788-1503delinsTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001407571.1:c.2782_2783delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407581.1:c.2995_2996delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407582.1:c.2995_2996delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407583.1:c.2995_2996delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407585.1:c.2995_2996delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407587.1:c.2992_2993delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407590.1:c.2992_2993delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407591.1:c.2992_2993delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407593.1:c.2995_2996delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407594.1:c.2995_2996delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407596.1:c.2995_2996delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407597.1:c.2995_2996delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407598.1:c.2995_2996delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407602.1:c.2995_2996delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407603.1:c.2995_2996delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407605.1:c.2995_2996delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407610.1:c.2992_2993delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407611.1:c.2992_2993delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407612.1:c.2992_2993delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407613.1:c.2992_2993delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407614.1:c.2992_2993delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407615.1:c.2992_2993delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407616.1:c.2995_2996delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407617.1:c.2995_2996delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407618.1:c.2995_2996delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407619.1:c.2995_2996delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407620.1:c.2995_2996delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407621.1:c.2995_2996delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407622.1:c.2995_2996delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407623.1:c.2995_2996delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407624.1:c.2995_2996delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407625.1:c.2995_2996delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407626.1:c.2995_2996delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407627.1:c.2992_2993delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407628.1:c.2992_2993delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407629.1:c.2992_2993delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407630.1:c.2992_2993delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407631.1:c.2992_2993delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407632.1:c.2992_2993delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407633.1:c.2992_2993delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407634.1:c.2992_2993delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407635.1:c.2992_2993delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407636.1:c.2992_2993delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407637.1:c.2992_2993delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407638.1:c.2992_2993delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407639.1:c.2995_2996delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407640.1:c.2995_2996delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407641.1:c.2995_2996delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407642.1:c.2995_2996delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407644.1:c.2992_2993delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407645.1:c.2992_2993delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407646.1:c.2986_2987delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407647.1:c.2986_2987delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407648.1:c.2872_2873delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407649.1:c.2869_2870delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407652.1:c.2995_2996delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407653.1:c.2917_2918delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407654.1:c.2917_2918delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407655.1:c.2917_2918delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407656.1:c.2917_2918delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407657.1:c.2917_2918delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407658.1:c.2917_2918delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407659.1:c.2914_2915delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407660.1:c.2914_2915delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407661.1:c.2914_2915delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407662.1:c.2914_2915delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407663.1:c.2917_2918delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407664.1:c.2872_2873delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407665.1:c.2872_2873delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407666.1:c.2872_2873delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407667.1:c.2872_2873delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407668.1:c.2872_2873delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407669.1:c.2872_2873delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407670.1:c.2869_2870delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407671.1:c.2869_2870delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407672.1:c.2869_2870delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407673.1:c.2869_2870delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407674.1:c.2872_2873delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407675.1:c.2872_2873delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407676.1:c.2872_2873delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407677.1:c.2872_2873delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407678.1:c.2872_2873delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407679.1:c.2872_2873delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407680.1:c.2872_2873delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407681.1:c.2872_2873delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407682.1:c.2872_2873delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407683.1:c.2872_2873delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407684.1:c.2995_2996delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407685.1:c.2869_2870delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407686.1:c.2869_2870delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407687.1:c.2869_2870delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407688.1:c.2869_2870delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407689.1:c.2869_2870delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407690.1:c.2869_2870delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407691.1:c.2869_2870delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407692.1:c.2854_2855delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407694.1:c.2854_2855delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407695.1:c.2854_2855delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407696.1:c.2854_2855delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407697.1:c.2854_2855delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407698.1:c.2854_2855delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407724.1:c.2854_2855delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407725.1:c.2854_2855delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407726.1:c.2854_2855delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407727.1:c.2854_2855delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407728.1:c.2854_2855delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407729.1:c.2854_2855delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407730.1:c.2854_2855delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407731.1:c.2854_2855delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407732.1:c.2854_2855delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407733.1:c.2854_2855delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407734.1:c.2854_2855delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407735.1:c.2854_2855delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407736.1:c.2854_2855delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407737.1:c.2854_2855delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407738.1:c.2854_2855delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407739.1:c.2854_2855delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407740.1:c.2851_2852delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407741.1:c.2851_2852delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407742.1:c.2851_2852delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407743.1:c.2851_2852delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407744.1:c.2851_2852delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407745.1:c.2851_2852delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407746.1:c.2851_2852delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407747.1:c.2851_2852delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407748.1:c.2851_2852delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407749.1:c.2851_2852delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407750.1:c.2854_2855delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407751.1:c.2854_2855delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407752.1:c.2854_2855delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407838.1:c.2851_2852delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407839.1:c.2851_2852delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407841.1:c.2851_2852delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407842.1:c.2851_2852delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407843.1:c.2851_2852delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407844.1:c.2851_2852delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407845.1:c.2851_2852delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407846.1:c.2851_2852delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407847.1:c.2851_2852delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407848.1:c.2851_2852delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407849.1:c.2851_2852delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407850.1:c.2854_2855delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407851.1:c.2854_2855delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407852.1:c.2854_2855delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407853.1:c.2782_2783delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407854.1:c.2995_2996delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407858.1:c.2995_2996delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407859.1:c.2995_2996delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407860.1:c.2992_2993delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407861.1:c.2992_2993delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407862.1:c.2794_2795delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407863.1:c.2872_2873delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407874.1:c.2791_2792delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407875.1:c.2791_2792delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407879.1:c.2785_2786delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407881.1:c.2785_2786delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407882.1:c.2785_2786delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407884.1:c.2785_2786delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407885.1:c.2785_2786delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407886.1:c.2785_2786delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407887.1:c.2785_2786delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407889.1:c.2785_2786delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407894.1:c.2782_2783delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407895.1:c.2782_2783delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407896.1:c.2782_2783delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407897.1:c.2782_2783delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407898.1:c.2782_2783delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407899.1:c.2782_2783delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407900.1:c.2785_2786delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407902.1:c.2785_2786delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407904.1:c.2785_2786delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407906.1:c.2785_2786delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407907.1:c.2785_2786delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407908.1:c.2785_2786delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407909.1:c.2785_2786delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407910.1:c.2785_2786delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407915.1:c.2782_2783delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407916.1:c.2782_2783delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407917.1:c.2782_2783delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407918.1:c.2782_2783delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407919.1:c.2872_2873delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407920.1:c.2731_2732delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407921.1:c.2731_2732delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407922.1:c.2731_2732delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407923.1:c.2731_2732delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407924.1:c.2731_2732delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407925.1:c.2731_2732delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407926.1:c.2731_2732delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407927.1:c.2731_2732delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407928.1:c.2731_2732delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407929.1:c.2731_2732delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407930.1:c.2728_2729delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407931.1:c.2728_2729delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407932.1:c.2728_2729delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407933.1:c.2731_2732delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407934.1:c.2728_2729delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407935.1:c.2731_2732delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407936.1:c.2728_2729delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407937.1:c.2872_2873delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407938.1:c.2872_2873delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407939.1:c.2872_2873delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407940.1:c.2869_2870delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407941.1:c.2869_2870delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407942.1:c.2854_2855delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407943.1:c.2851_2852delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407944.1:c.2854_2855delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407945.1:c.2854_2855delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407946.1:c.2662_2663delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407947.1:c.2662_2663delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407948.1:c.2662_2663delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407949.1:c.2662_2663delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407950.1:c.2662_2663delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407951.1:c.2662_2663delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407952.1:c.2662_2663delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407953.1:c.2662_2663delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407954.1:c.2659_2660delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407955.1:c.2659_2660delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407956.1:c.2659_2660delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407957.1:c.2662_2663delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407958.1:c.2659_2660delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407959.1:c.2614_2615delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407960.1:c.2614_2615delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407962.1:c.2611_2612delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407963.1:c.2614_2615delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407964.1:c.2851_2852delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407965.1:c.2491_2492delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407966.1:c.2107_2108delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407967.1:c.2107_2108delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_007294.4:c.2995_2996delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_007297.4:c.2854_2855delinsTA - nonsense - [Sequence Ontology: SO:0001587]
NM_007300.4:c.2995_2996delinsTA - nonsense - [Sequence Ontology: SO:0001587]

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

Recent activity

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Mus musculus olfactory receptor 1010 (Olfr1010), mRNA
Mus musculus olfactory receptor 1010 (Olfr1010), mRNA
gi|46391056|ref|NM_207149.1|

Nucleotide
NADH dehydrogenase subunit 1 (mitochondrion) [Smithornis sharpei]
NADH dehydrogenase subunit 1 (mitochondrion) [Smithornis sharpei]
gi|5835961|gnl|NCBI_MITO|ND1_15093| P_008725.1|ND1_15093

Protein
Brugmansia suaveolens APETALA2 mRNA, complete cds
Brugmansia suaveolens APETALA2 mRNA, complete cds
gi|1983932009|gb|MW375892.1|

Nucleotide
Oncidium hybrid cultivar APETALA2 mRNA, complete cds
Oncidium hybrid cultivar APETALA2 mRNA, complete cds
gi|1983932017|gb|MW375896.1|

Nucleotide
NADH dehydrogenase subunit V (mitochondrion) [Smithornis sharpei]
NADH dehydrogenase subunit V (mitochondrion) [Smithornis sharpei]
gi|4894499|gb|AAD32524.1|AF090340_1

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000215290	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (May 31, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000215290

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(May 31, 2018)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV000215290.7

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

Description

The c.2995_2996delCTinsTA pathogenic mutation (also known as p.L999*), located in coding exon 9 of the BRCA1 gene, results from an in-frame deletion of CT and insertion of TA between nucleotide positions 2995 and 2996. This changes the amino acid from a leucine to a stop codon at amino acid 999 within coding exon 9. This alteration was identified in 1/10030 consecutive patients referred for evaluation by an NGS hereditary cancer panel (Susswein LR et al. Genet Med. 2016 Aug;18(8):823-32). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#	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: Sep 16, 2024

ClinVar

Relating variation to medicine