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NM_007294.4(BRCA1):c.2998_3003del (p.Glu1000_Glu1001del) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 22, 2024
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:
RCV000159911.16

Allele description [Variation Report for NM_007294.4(BRCA1):c.2998_3003del (p.Glu1000_Glu1001del)]

NM_007294.4(BRCA1):c.2998_3003del (p.Glu1000_Glu1001del)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.2998_3003del (p.Glu1000_Glu1001del)
Other names:
EE1000del
HGVS:
  • NC_000017.10:g.41244545_41244550del
  • NC_000017.11:g.43092529_43092534del
  • NG_005905.2:g.125451_125456del
  • NM_001407571.1:c.2785_2790del
  • NM_001407581.1:c.2998_3003del
  • NM_001407582.1:c.2998_3003del
  • NM_001407583.1:c.2998_3003del
  • NM_001407585.1:c.2998_3003del
  • NM_001407587.1:c.2995_3000del
  • NM_001407590.1:c.2995_3000del
  • NM_001407591.1:c.2995_3000del
  • NM_001407593.1:c.2998_3003del
  • NM_001407594.1:c.2998_3003del
  • NM_001407596.1:c.2998_3003del
  • NM_001407597.1:c.2998_3003del
  • NM_001407598.1:c.2998_3003del
  • NM_001407602.1:c.2998_3003del
  • NM_001407603.1:c.2998_3003del
  • NM_001407605.1:c.2998_3003del
  • NM_001407610.1:c.2995_3000del
  • NM_001407611.1:c.2995_3000del
  • NM_001407612.1:c.2995_3000del
  • NM_001407613.1:c.2995_3000del
  • NM_001407614.1:c.2995_3000del
  • NM_001407615.1:c.2995_3000del
  • NM_001407616.1:c.2998_3003del
  • NM_001407617.1:c.2998_3003del
  • NM_001407618.1:c.2998_3003del
  • NM_001407619.1:c.2998_3003del
  • NM_001407620.1:c.2998_3003del
  • NM_001407621.1:c.2998_3003del
  • NM_001407622.1:c.2998_3003del
  • NM_001407623.1:c.2998_3003del
  • NM_001407624.1:c.2998_3003del
  • NM_001407625.1:c.2998_3003del
  • NM_001407626.1:c.2998_3003del
  • NM_001407627.1:c.2995_3000del
  • NM_001407628.1:c.2995_3000del
  • NM_001407629.1:c.2995_3000del
  • NM_001407630.1:c.2995_3000del
  • NM_001407631.1:c.2995_3000del
  • NM_001407632.1:c.2995_3000del
  • NM_001407633.1:c.2995_3000del
  • NM_001407634.1:c.2995_3000del
  • NM_001407635.1:c.2995_3000del
  • NM_001407636.1:c.2995_3000del
  • NM_001407637.1:c.2995_3000del
  • NM_001407638.1:c.2995_3000del
  • NM_001407639.1:c.2998_3003del
  • NM_001407640.1:c.2998_3003del
  • NM_001407641.1:c.2998_3003del
  • NM_001407642.1:c.2998_3003del
  • NM_001407644.1:c.2995_3000del
  • NM_001407645.1:c.2995_3000del
  • NM_001407646.1:c.2989_2994del
  • NM_001407647.1:c.2989_2994del
  • NM_001407648.1:c.2875_2880del
  • NM_001407649.1:c.2872_2877del
  • NM_001407652.1:c.2998_3003del
  • NM_001407653.1:c.2920_2925del
  • NM_001407654.1:c.2920_2925del
  • NM_001407655.1:c.2920_2925del
  • NM_001407656.1:c.2920_2925del
  • NM_001407657.1:c.2920_2925del
  • NM_001407658.1:c.2920_2925del
  • NM_001407659.1:c.2917_2922del
  • NM_001407660.1:c.2917_2922del
  • NM_001407661.1:c.2917_2922del
  • NM_001407662.1:c.2917_2922del
  • NM_001407663.1:c.2920_2925del
  • NM_001407664.1:c.2875_2880del
  • NM_001407665.1:c.2875_2880del
  • NM_001407666.1:c.2875_2880del
  • NM_001407667.1:c.2875_2880del
  • NM_001407668.1:c.2875_2880del
  • NM_001407669.1:c.2875_2880del
  • NM_001407670.1:c.2872_2877del
  • NM_001407671.1:c.2872_2877del
  • NM_001407672.1:c.2872_2877del
  • NM_001407673.1:c.2872_2877del
  • NM_001407674.1:c.2875_2880del
  • NM_001407675.1:c.2875_2880del
  • NM_001407676.1:c.2875_2880del
  • NM_001407677.1:c.2875_2880del
  • NM_001407678.1:c.2875_2880del
  • NM_001407679.1:c.2875_2880del
  • NM_001407680.1:c.2875_2880del
  • NM_001407681.1:c.2875_2880del
  • NM_001407682.1:c.2875_2880del
  • NM_001407683.1:c.2875_2880del
  • NM_001407684.1:c.2998_3003del
  • NM_001407685.1:c.2872_2877del
  • NM_001407686.1:c.2872_2877del
  • NM_001407687.1:c.2872_2877del
  • NM_001407688.1:c.2872_2877del
  • NM_001407689.1:c.2872_2877del
  • NM_001407690.1:c.2872_2877del
  • NM_001407691.1:c.2872_2877del
  • NM_001407692.1:c.2857_2862del
  • NM_001407694.1:c.2857_2862del
  • NM_001407695.1:c.2857_2862del
  • NM_001407696.1:c.2857_2862del
  • NM_001407697.1:c.2857_2862del
  • NM_001407698.1:c.2857_2862del
  • NM_001407724.1:c.2857_2862del
  • NM_001407725.1:c.2857_2862del
  • NM_001407726.1:c.2857_2862del
  • NM_001407727.1:c.2857_2862del
  • NM_001407728.1:c.2857_2862del
  • NM_001407729.1:c.2857_2862del
  • NM_001407730.1:c.2857_2862del
  • NM_001407731.1:c.2857_2862del
  • NM_001407732.1:c.2857_2862del
  • NM_001407733.1:c.2857_2862del
  • NM_001407734.1:c.2857_2862del
  • NM_001407735.1:c.2857_2862del
  • NM_001407736.1:c.2857_2862del
  • NM_001407737.1:c.2857_2862del
  • NM_001407738.1:c.2857_2862del
  • NM_001407739.1:c.2857_2862del
  • NM_001407740.1:c.2854_2859del
  • NM_001407741.1:c.2854_2859del
  • NM_001407742.1:c.2854_2859del
  • NM_001407743.1:c.2854_2859del
  • NM_001407744.1:c.2854_2859del
  • NM_001407745.1:c.2854_2859del
  • NM_001407746.1:c.2854_2859del
  • NM_001407747.1:c.2854_2859del
  • NM_001407748.1:c.2854_2859del
  • NM_001407749.1:c.2854_2859del
  • NM_001407750.1:c.2857_2862del
  • NM_001407751.1:c.2857_2862del
  • NM_001407752.1:c.2857_2862del
  • NM_001407838.1:c.2854_2859del
  • NM_001407839.1:c.2854_2859del
  • NM_001407841.1:c.2854_2859del
  • NM_001407842.1:c.2854_2859del
  • NM_001407843.1:c.2854_2859del
  • NM_001407844.1:c.2854_2859del
  • NM_001407845.1:c.2854_2859del
  • NM_001407846.1:c.2854_2859del
  • NM_001407847.1:c.2854_2859del
  • NM_001407848.1:c.2854_2859del
  • NM_001407849.1:c.2854_2859del
  • NM_001407850.1:c.2857_2862del
  • NM_001407851.1:c.2857_2862del
  • NM_001407852.1:c.2857_2862del
  • NM_001407853.1:c.2785_2790del
  • NM_001407854.1:c.2998_3003del
  • NM_001407858.1:c.2998_3003del
  • NM_001407859.1:c.2998_3003del
  • NM_001407860.1:c.2995_3000del
  • NM_001407861.1:c.2995_3000del
  • NM_001407862.1:c.2797_2802del
  • NM_001407863.1:c.2875_2880del
  • NM_001407874.1:c.2794_2799del
  • NM_001407875.1:c.2794_2799del
  • NM_001407879.1:c.2788_2793del
  • NM_001407881.1:c.2788_2793del
  • NM_001407882.1:c.2788_2793del
  • NM_001407884.1:c.2788_2793del
  • NM_001407885.1:c.2788_2793del
  • NM_001407886.1:c.2788_2793del
  • NM_001407887.1:c.2788_2793del
  • NM_001407889.1:c.2788_2793del
  • NM_001407894.1:c.2785_2790del
  • NM_001407895.1:c.2785_2790del
  • NM_001407896.1:c.2785_2790del
  • NM_001407897.1:c.2785_2790del
  • NM_001407898.1:c.2785_2790del
  • NM_001407899.1:c.2785_2790del
  • NM_001407900.1:c.2788_2793del
  • NM_001407902.1:c.2788_2793del
  • NM_001407904.1:c.2788_2793del
  • NM_001407906.1:c.2788_2793del
  • NM_001407907.1:c.2788_2793del
  • NM_001407908.1:c.2788_2793del
  • NM_001407909.1:c.2788_2793del
  • NM_001407910.1:c.2788_2793del
  • NM_001407915.1:c.2785_2790del
  • NM_001407916.1:c.2785_2790del
  • NM_001407917.1:c.2785_2790del
  • NM_001407918.1:c.2785_2790del
  • NM_001407919.1:c.2875_2880del
  • NM_001407920.1:c.2734_2739del
  • NM_001407921.1:c.2734_2739del
  • NM_001407922.1:c.2734_2739del
  • NM_001407923.1:c.2734_2739del
  • NM_001407924.1:c.2734_2739del
  • NM_001407925.1:c.2734_2739del
  • NM_001407926.1:c.2734_2739del
  • NM_001407927.1:c.2734_2739del
  • NM_001407928.1:c.2734_2739del
  • NM_001407929.1:c.2734_2739del
  • NM_001407930.1:c.2731_2736del
  • NM_001407931.1:c.2731_2736del
  • NM_001407932.1:c.2731_2736del
  • NM_001407933.1:c.2734_2739del
  • NM_001407934.1:c.2731_2736del
  • NM_001407935.1:c.2734_2739del
  • NM_001407936.1:c.2731_2736del
  • NM_001407937.1:c.2875_2880del
  • NM_001407938.1:c.2875_2880del
  • NM_001407939.1:c.2875_2880del
  • NM_001407940.1:c.2872_2877del
  • NM_001407941.1:c.2872_2877del
  • NM_001407942.1:c.2857_2862del
  • NM_001407943.1:c.2854_2859del
  • NM_001407944.1:c.2857_2862del
  • NM_001407945.1:c.2857_2862del
  • NM_001407946.1:c.2665_2670del
  • NM_001407947.1:c.2665_2670del
  • NM_001407948.1:c.2665_2670del
  • NM_001407949.1:c.2665_2670del
  • NM_001407950.1:c.2665_2670del
  • NM_001407951.1:c.2665_2670del
  • NM_001407952.1:c.2665_2670del
  • NM_001407953.1:c.2665_2670del
  • NM_001407954.1:c.2662_2667del
  • NM_001407955.1:c.2662_2667del
  • NM_001407956.1:c.2662_2667del
  • NM_001407957.1:c.2665_2670del
  • NM_001407958.1:c.2662_2667del
  • NM_001407959.1:c.2617_2622del
  • NM_001407960.1:c.2617_2622del
  • NM_001407962.1:c.2614_2619del
  • NM_001407963.1:c.2617_2622del
  • NM_001407964.1:c.2854_2859del
  • NM_001407965.1:c.2494_2499del
  • NM_001407966.1:c.2110_2115del
  • NM_001407967.1:c.2110_2115del
  • NM_001407968.1:c.788-394_788-389del
  • NM_001407969.1:c.788-394_788-389del
  • NM_001407970.1:c.788-1501_788-1496del
  • NM_001407971.1:c.788-1501_788-1496del
  • NM_001407972.1:c.785-1501_785-1496del
  • NM_001407973.1:c.788-1501_788-1496del
  • NM_001407974.1:c.788-1501_788-1496del
  • NM_001407975.1:c.788-1501_788-1496del
  • NM_001407976.1:c.788-1501_788-1496del
  • NM_001407977.1:c.788-1501_788-1496del
  • NM_001407978.1:c.788-1501_788-1496del
  • NM_001407979.1:c.788-1501_788-1496del
  • NM_001407980.1:c.788-1501_788-1496del
  • NM_001407981.1:c.788-1501_788-1496del
  • NM_001407982.1:c.788-1501_788-1496del
  • NM_001407983.1:c.788-1501_788-1496del
  • NM_001407984.1:c.785-1501_785-1496del
  • NM_001407985.1:c.785-1501_785-1496del
  • NM_001407986.1:c.785-1501_785-1496del
  • NM_001407990.1:c.788-1501_788-1496del
  • NM_001407991.1:c.785-1501_785-1496del
  • NM_001407992.1:c.785-1501_785-1496del
  • NM_001407993.1:c.788-1501_788-1496del
  • NM_001408392.1:c.785-1501_785-1496del
  • NM_001408396.1:c.785-1501_785-1496del
  • NM_001408397.1:c.785-1501_785-1496del
  • NM_001408398.1:c.785-1501_785-1496del
  • NM_001408399.1:c.785-1501_785-1496del
  • NM_001408400.1:c.785-1501_785-1496del
  • NM_001408401.1:c.785-1501_785-1496del
  • NM_001408402.1:c.785-1501_785-1496del
  • NM_001408403.1:c.788-1501_788-1496del
  • NM_001408404.1:c.788-1501_788-1496del
  • NM_001408406.1:c.791-1510_791-1505del
  • NM_001408407.1:c.785-1501_785-1496del
  • NM_001408408.1:c.779-1501_779-1496del
  • NM_001408409.1:c.710-1501_710-1496del
  • NM_001408410.1:c.647-1501_647-1496del
  • NM_001408411.1:c.710-1501_710-1496del
  • NM_001408412.1:c.710-1501_710-1496del
  • NM_001408413.1:c.707-1501_707-1496del
  • NM_001408414.1:c.710-1501_710-1496del
  • NM_001408415.1:c.710-1501_710-1496del
  • NM_001408416.1:c.707-1501_707-1496del
  • NM_001408418.1:c.671-1501_671-1496del
  • NM_001408419.1:c.671-1501_671-1496del
  • NM_001408420.1:c.671-1501_671-1496del
  • NM_001408421.1:c.668-1501_668-1496del
  • NM_001408422.1:c.671-1501_671-1496del
  • NM_001408423.1:c.671-1501_671-1496del
  • NM_001408424.1:c.668-1501_668-1496del
  • NM_001408425.1:c.665-1501_665-1496del
  • NM_001408426.1:c.665-1501_665-1496del
  • NM_001408427.1:c.665-1501_665-1496del
  • NM_001408428.1:c.665-1501_665-1496del
  • NM_001408429.1:c.665-1501_665-1496del
  • NM_001408430.1:c.665-1501_665-1496del
  • NM_001408431.1:c.668-1501_668-1496del
  • NM_001408432.1:c.662-1501_662-1496del
  • NM_001408433.1:c.662-1501_662-1496del
  • NM_001408434.1:c.662-1501_662-1496del
  • NM_001408435.1:c.662-1501_662-1496del
  • NM_001408436.1:c.665-1501_665-1496del
  • NM_001408437.1:c.665-1501_665-1496del
  • NM_001408438.1:c.665-1501_665-1496del
  • NM_001408439.1:c.665-1501_665-1496del
  • NM_001408440.1:c.665-1501_665-1496del
  • NM_001408441.1:c.665-1501_665-1496del
  • NM_001408442.1:c.665-1501_665-1496del
  • NM_001408443.1:c.665-1501_665-1496del
  • NM_001408444.1:c.665-1501_665-1496del
  • NM_001408445.1:c.662-1501_662-1496del
  • NM_001408446.1:c.662-1501_662-1496del
  • NM_001408447.1:c.662-1501_662-1496del
  • NM_001408448.1:c.662-1501_662-1496del
  • NM_001408450.1:c.662-1501_662-1496del
  • NM_001408451.1:c.653-1501_653-1496del
  • NM_001408452.1:c.647-1501_647-1496del
  • NM_001408453.1:c.647-1501_647-1496del
  • NM_001408454.1:c.647-1501_647-1496del
  • NM_001408455.1:c.647-1501_647-1496del
  • NM_001408456.1:c.647-1501_647-1496del
  • NM_001408457.1:c.647-1501_647-1496del
  • NM_001408458.1:c.647-1501_647-1496del
  • NM_001408459.1:c.647-1501_647-1496del
  • NM_001408460.1:c.647-1501_647-1496del
  • NM_001408461.1:c.647-1501_647-1496del
  • NM_001408462.1:c.644-1501_644-1496del
  • NM_001408463.1:c.644-1501_644-1496del
  • NM_001408464.1:c.644-1501_644-1496del
  • NM_001408465.1:c.644-1501_644-1496del
  • NM_001408466.1:c.647-1501_647-1496del
  • NM_001408467.1:c.647-1501_647-1496del
  • NM_001408468.1:c.644-1501_644-1496del
  • NM_001408469.1:c.647-1501_647-1496del
  • NM_001408470.1:c.644-1501_644-1496del
  • NM_001408472.1:c.788-1501_788-1496del
  • NM_001408473.1:c.785-1501_785-1496del
  • NM_001408474.1:c.587-1501_587-1496del
  • NM_001408475.1:c.584-1501_584-1496del
  • NM_001408476.1:c.587-1501_587-1496del
  • NM_001408478.1:c.578-1501_578-1496del
  • NM_001408479.1:c.578-1501_578-1496del
  • NM_001408480.1:c.578-1501_578-1496del
  • NM_001408481.1:c.578-1501_578-1496del
  • NM_001408482.1:c.578-1501_578-1496del
  • NM_001408483.1:c.578-1501_578-1496del
  • NM_001408484.1:c.578-1501_578-1496del
  • NM_001408485.1:c.578-1501_578-1496del
  • NM_001408489.1:c.578-1501_578-1496del
  • NM_001408490.1:c.575-1501_575-1496del
  • NM_001408491.1:c.575-1501_575-1496del
  • NM_001408492.1:c.578-1501_578-1496del
  • NM_001408493.1:c.575-1501_575-1496del
  • NM_001408494.1:c.548-1501_548-1496del
  • NM_001408495.1:c.545-1501_545-1496del
  • NM_001408496.1:c.524-1501_524-1496del
  • NM_001408497.1:c.524-1501_524-1496del
  • NM_001408498.1:c.524-1501_524-1496del
  • NM_001408499.1:c.524-1501_524-1496del
  • NM_001408500.1:c.524-1501_524-1496del
  • NM_001408501.1:c.524-1501_524-1496del
  • NM_001408502.1:c.455-1501_455-1496del
  • NM_001408503.1:c.521-1501_521-1496del
  • NM_001408504.1:c.521-1501_521-1496del
  • NM_001408505.1:c.521-1501_521-1496del
  • NM_001408506.1:c.461-1501_461-1496del
  • NM_001408507.1:c.461-1501_461-1496del
  • NM_001408508.1:c.452-1501_452-1496del
  • NM_001408509.1:c.452-1501_452-1496del
  • NM_001408510.1:c.407-1501_407-1496del
  • NM_001408511.1:c.404-1501_404-1496del
  • NM_001408512.1:c.284-1501_284-1496del
  • NM_001408513.1:c.578-1501_578-1496del
  • NM_001408514.1:c.578-1501_578-1496del
  • NM_007294.4:c.2998_3003delMANE SELECT
  • NM_007297.4:c.2857_2862del
  • NM_007298.4:c.788-1501_788-1496del
  • NM_007299.4:c.788-1501_788-1496del
  • NM_007300.4:c.2998_3003del
  • NP_001394500.1:p.Glu929_Glu930del
  • NP_001394510.1:p.Glu1000_Glu1001del
  • NP_001394511.1:p.Glu1000_Glu1001del
  • NP_001394512.1:p.Glu1000_Glu1001del
  • NP_001394514.1:p.Glu1000_Glu1001del
  • NP_001394516.1:p.Glu999_Glu1000del
  • NP_001394519.1:p.Glu999_Glu1000del
  • NP_001394520.1:p.Glu999_Glu1000del
  • NP_001394522.1:p.Glu1000_Glu1001del
  • NP_001394523.1:p.Glu1000_Glu1001del
  • NP_001394525.1:p.Glu1000_Glu1001del
  • NP_001394526.1:p.Glu1000_Glu1001del
  • NP_001394527.1:p.Glu1000_Glu1001del
  • NP_001394531.1:p.Glu1000_Glu1001del
  • NP_001394532.1:p.Glu1000_Glu1001del
  • NP_001394534.1:p.Glu1000_Glu1001del
  • NP_001394539.1:p.Glu999_Glu1000del
  • NP_001394540.1:p.Glu999_Glu1000del
  • NP_001394541.1:p.Glu999_Glu1000del
  • NP_001394542.1:p.Glu999_Glu1000del
  • NP_001394543.1:p.Glu999_Glu1000del
  • NP_001394544.1:p.Glu999_Glu1000del
  • NP_001394545.1:p.Glu1000_Glu1001del
  • NP_001394546.1:p.Glu1000_Glu1001del
  • NP_001394547.1:p.Glu1000_Glu1001del
  • NP_001394548.1:p.Glu1000_Glu1001del
  • NP_001394549.1:p.Glu1000_Glu1001del
  • NP_001394550.1:p.Glu1000_Glu1001del
  • NP_001394551.1:p.Glu1000_Glu1001del
  • NP_001394552.1:p.Glu1000_Glu1001del
  • NP_001394553.1:p.Glu1000_Glu1001del
  • NP_001394554.1:p.Glu1000_Glu1001del
  • NP_001394555.1:p.Glu1000_Glu1001del
  • NP_001394556.1:p.Glu999_Glu1000del
  • NP_001394557.1:p.Glu999_Glu1000del
  • NP_001394558.1:p.Glu999_Glu1000del
  • NP_001394559.1:p.Glu999_Glu1000del
  • NP_001394560.1:p.Glu999_Glu1000del
  • NP_001394561.1:p.Glu999_Glu1000del
  • NP_001394562.1:p.Glu999_Glu1000del
  • NP_001394563.1:p.Glu999_Glu1000del
  • NP_001394564.1:p.Glu999_Glu1000del
  • NP_001394565.1:p.Glu999_Glu1000del
  • NP_001394566.1:p.Glu999_Glu1000del
  • NP_001394567.1:p.Glu999_Glu1000del
  • NP_001394568.1:p.Glu1000_Glu1001del
  • NP_001394569.1:p.Glu1000_Glu1001del
  • NP_001394570.1:p.Glu1000_Glu1001del
  • NP_001394571.1:p.Glu1000_Glu1001del
  • NP_001394573.1:p.Glu999_Glu1000del
  • NP_001394574.1:p.Glu999_Glu1000del
  • NP_001394575.1:p.Glu997_Glu998del
  • NP_001394576.1:p.Glu997_Glu998del
  • NP_001394577.1:p.Glu959_Glu960del
  • NP_001394578.1:p.Glu958_Glu959del
  • NP_001394581.1:p.Glu1000_Glu1001del
  • NP_001394582.1:p.Glu974_Glu975del
  • NP_001394583.1:p.Glu974_Glu975del
  • NP_001394584.1:p.Glu974_Glu975del
  • NP_001394585.1:p.Glu974_Glu975del
  • NP_001394586.1:p.Glu974_Glu975del
  • NP_001394587.1:p.Glu974_Glu975del
  • NP_001394588.1:p.Glu973_Glu974del
  • NP_001394589.1:p.Glu973_Glu974del
  • NP_001394590.1:p.Glu973_Glu974del
  • NP_001394591.1:p.Glu973_Glu974del
  • NP_001394592.1:p.Glu974_Glu975del
  • NP_001394593.1:p.Glu959_Glu960del
  • NP_001394594.1:p.Glu959_Glu960del
  • NP_001394595.1:p.Glu959_Glu960del
  • NP_001394596.1:p.Glu959_Glu960del
  • NP_001394597.1:p.Glu959_Glu960del
  • NP_001394598.1:p.Glu959_Glu960del
  • NP_001394599.1:p.Glu958_Glu959del
  • NP_001394600.1:p.Glu958_Glu959del
  • NP_001394601.1:p.Glu958_Glu959del
  • NP_001394602.1:p.Glu958_Glu959del
  • NP_001394603.1:p.Glu959_Glu960del
  • NP_001394604.1:p.Glu959_Glu960del
  • NP_001394605.1:p.Glu959_Glu960del
  • NP_001394606.1:p.Glu959_Glu960del
  • NP_001394607.1:p.Glu959_Glu960del
  • NP_001394608.1:p.Glu959_Glu960del
  • NP_001394609.1:p.Glu959_Glu960del
  • NP_001394610.1:p.Glu959_Glu960del
  • NP_001394611.1:p.Glu959_Glu960del
  • NP_001394612.1:p.Glu959_Glu960del
  • NP_001394613.1:p.Glu1000_Glu1001del
  • NP_001394614.1:p.Glu958_Glu959del
  • NP_001394615.1:p.Glu958_Glu959del
  • NP_001394616.1:p.Glu958_Glu959del
  • NP_001394617.1:p.Glu958_Glu959del
  • NP_001394618.1:p.Glu958_Glu959del
  • NP_001394619.1:p.Glu958_Glu959del
  • NP_001394620.1:p.Glu958_Glu959del
  • NP_001394621.1:p.Glu953_Glu954del
  • NP_001394623.1:p.Glu953_Glu954del
  • NP_001394624.1:p.Glu953_Glu954del
  • NP_001394625.1:p.Glu953_Glu954del
  • NP_001394626.1:p.Glu953_Glu954del
  • NP_001394627.1:p.Glu953_Glu954del
  • NP_001394653.1:p.Glu953_Glu954del
  • NP_001394654.1:p.Glu953_Glu954del
  • NP_001394655.1:p.Glu953_Glu954del
  • NP_001394656.1:p.Glu953_Glu954del
  • NP_001394657.1:p.Glu953_Glu954del
  • NP_001394658.1:p.Glu953_Glu954del
  • NP_001394659.1:p.Glu953_Glu954del
  • NP_001394660.1:p.Glu953_Glu954del
  • NP_001394661.1:p.Glu953_Glu954del
  • NP_001394662.1:p.Glu953_Glu954del
  • NP_001394663.1:p.Glu953_Glu954del
  • NP_001394664.1:p.Glu953_Glu954del
  • NP_001394665.1:p.Glu953_Glu954del
  • NP_001394666.1:p.Glu953_Glu954del
  • NP_001394667.1:p.Glu953_Glu954del
  • NP_001394668.1:p.Glu953_Glu954del
  • NP_001394669.1:p.Glu952_Glu953del
  • NP_001394670.1:p.Glu952_Glu953del
  • NP_001394671.1:p.Glu952_Glu953del
  • NP_001394672.1:p.Glu952_Glu953del
  • NP_001394673.1:p.Glu952_Glu953del
  • NP_001394674.1:p.Glu952_Glu953del
  • NP_001394675.1:p.Glu952_Glu953del
  • NP_001394676.1:p.Glu952_Glu953del
  • NP_001394677.1:p.Glu952_Glu953del
  • NP_001394678.1:p.Glu952_Glu953del
  • NP_001394679.1:p.Glu953_Glu954del
  • NP_001394680.1:p.Glu953_Glu954del
  • NP_001394681.1:p.Glu953_Glu954del
  • NP_001394767.1:p.Glu952_Glu953del
  • NP_001394768.1:p.Glu952_Glu953del
  • NP_001394770.1:p.Glu952_Glu953del
  • NP_001394771.1:p.Glu952_Glu953del
  • NP_001394772.1:p.Glu952_Glu953del
  • NP_001394773.1:p.Glu952_Glu953del
  • NP_001394774.1:p.Glu952_Glu953del
  • NP_001394775.1:p.Glu952_Glu953del
  • NP_001394776.1:p.Glu952_Glu953del
  • NP_001394777.1:p.Glu952_Glu953del
  • NP_001394778.1:p.Glu952_Glu953del
  • NP_001394779.1:p.Glu953_Glu954del
  • NP_001394780.1:p.Glu953_Glu954del
  • NP_001394781.1:p.Glu953_Glu954del
  • NP_001394782.1:p.Glu929_Glu930del
  • NP_001394783.1:p.Glu1000_Glu1001del
  • NP_001394787.1:p.Glu1000_Glu1001del
  • NP_001394788.1:p.Glu1000_Glu1001del
  • NP_001394789.1:p.Glu999_Glu1000del
  • NP_001394790.1:p.Glu999_Glu1000del
  • NP_001394791.1:p.Glu933_Glu934del
  • NP_001394792.1:p.Glu959_Glu960del
  • NP_001394803.1:p.Glu932_Glu933del
  • NP_001394804.1:p.Glu932_Glu933del
  • NP_001394808.1:p.Glu930_Glu931del
  • NP_001394810.1:p.Glu930_Glu931del
  • NP_001394811.1:p.Glu930_Glu931del
  • NP_001394813.1:p.Glu930_Glu931del
  • NP_001394814.1:p.Glu930_Glu931del
  • NP_001394815.1:p.Glu930_Glu931del
  • NP_001394816.1:p.Glu930_Glu931del
  • NP_001394818.1:p.Glu930_Glu931del
  • NP_001394823.1:p.Glu929_Glu930del
  • NP_001394824.1:p.Glu929_Glu930del
  • NP_001394825.1:p.Glu929_Glu930del
  • NP_001394826.1:p.Glu929_Glu930del
  • NP_001394827.1:p.Glu929_Glu930del
  • NP_001394828.1:p.Glu929_Glu930del
  • NP_001394829.1:p.Glu930_Glu931del
  • NP_001394831.1:p.Glu930_Glu931del
  • NP_001394833.1:p.Glu930_Glu931del
  • NP_001394835.1:p.Glu930_Glu931del
  • NP_001394836.1:p.Glu930_Glu931del
  • NP_001394837.1:p.Glu930_Glu931del
  • NP_001394838.1:p.Glu930_Glu931del
  • NP_001394839.1:p.Glu930_Glu931del
  • NP_001394844.1:p.Glu929_Glu930del
  • NP_001394845.1:p.Glu929_Glu930del
  • NP_001394846.1:p.Glu929_Glu930del
  • NP_001394847.1:p.Glu929_Glu930del
  • NP_001394848.1:p.Glu959_Glu960del
  • NP_001394849.1:p.Glu912_Glu913del
  • NP_001394850.1:p.Glu912_Glu913del
  • NP_001394851.1:p.Glu912_Glu913del
  • NP_001394852.1:p.Glu912_Glu913del
  • NP_001394853.1:p.Glu912_Glu913del
  • NP_001394854.1:p.Glu912_Glu913del
  • NP_001394855.1:p.Glu912_Glu913del
  • NP_001394856.1:p.Glu912_Glu913del
  • NP_001394857.1:p.Glu912_Glu913del
  • NP_001394858.1:p.Glu912_Glu913del
  • NP_001394859.1:p.Glu911_Glu912del
  • NP_001394860.1:p.Glu911_Glu912del
  • NP_001394861.1:p.Glu911_Glu912del
  • NP_001394862.1:p.Glu912_Glu913del
  • NP_001394863.1:p.Glu911_Glu912del
  • NP_001394864.1:p.Glu912_Glu913del
  • NP_001394865.1:p.Glu911_Glu912del
  • NP_001394866.1:p.Glu959_Glu960del
  • NP_001394867.1:p.Glu959_Glu960del
  • NP_001394868.1:p.Glu959_Glu960del
  • NP_001394869.1:p.Glu958_Glu959del
  • NP_001394870.1:p.Glu958_Glu959del
  • NP_001394871.1:p.Glu953_Glu954del
  • NP_001394872.1:p.Glu952_Glu953del
  • NP_001394873.1:p.Glu953_Glu954del
  • NP_001394874.1:p.Glu953_Glu954del
  • NP_001394875.1:p.Glu889_Glu890del
  • NP_001394876.1:p.Glu889_Glu890del
  • NP_001394877.1:p.Glu889_Glu890del
  • NP_001394878.1:p.Glu889_Glu890del
  • NP_001394879.1:p.Glu889_Glu890del
  • NP_001394880.1:p.Glu889_Glu890del
  • NP_001394881.1:p.Glu889_Glu890del
  • NP_001394882.1:p.Glu889_Glu890del
  • NP_001394883.1:p.Glu888_Glu889del
  • NP_001394884.1:p.Glu888_Glu889del
  • NP_001394885.1:p.Glu888_Glu889del
  • NP_001394886.1:p.Glu889_Glu890del
  • NP_001394887.1:p.Glu888_Glu889del
  • NP_001394888.1:p.Glu873_Glu874del
  • NP_001394889.1:p.Glu873_Glu874del
  • NP_001394891.1:p.Glu872_Glu873del
  • NP_001394892.1:p.Glu873_Glu874del
  • NP_001394893.1:p.Glu952_Glu953del
  • NP_001394894.1:p.Glu832_Glu833del
  • NP_001394895.1:p.Glu704_Glu705del
  • NP_001394896.1:p.Glu704_Glu705del
  • NP_009225.1:p.Glu1000_Glu1001del
  • NP_009225.1:p.Glu1000_Glu1001del
  • NP_009228.2:p.Glu953_Glu954del
  • NP_009231.2:p.Glu1000_Glu1001del
  • LRG_292t1:c.2997_3002del
  • LRG_292:g.125451_125456del
  • LRG_292p1:p.Glu1000_Glu1001del
  • NC_000017.10:g.41244545_41244550del
  • NC_000017.10:g.41244546_41244551del
  • NC_000017.10:g.41244546_41244551delTCCTCT
  • NM_007294.3:c.2997_3002delAGAGGA
  • NM_007294.3:c.2998_3003delGAGGAA
  • NM_007294.4:c.2998_3003delGAGGAAMANE SELECT
  • NR_027676.1:n.3133_3138delAGAGGA
  • U14680.1:n.3117_3122delGAGGAA
  • p.E1000_E10001del
  • p.E1000_E1001del
Nucleotide change:
3117del6
Links:
Breast Cancer Information Core (BIC) (BRCA1): 3117&base_change=del GAGGAA; dbSNP: rs80358333
NCBI 1000 Genomes Browser:
rs80358333
Molecular consequence:
  • NM_001407571.1:c.2785_2790del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407581.1:c.2998_3003del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407582.1:c.2998_3003del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407583.1:c.2998_3003del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407585.1:c.2998_3003del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407587.1:c.2995_3000del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407590.1:c.2995_3000del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407591.1:c.2995_3000del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407593.1:c.2998_3003del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407594.1:c.2998_3003del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407596.1:c.2998_3003del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407597.1:c.2998_3003del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407598.1:c.2998_3003del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407602.1:c.2998_3003del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407603.1:c.2998_3003del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407605.1:c.2998_3003del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407610.1:c.2995_3000del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407611.1:c.2995_3000del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407612.1:c.2995_3000del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407613.1:c.2995_3000del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407614.1:c.2995_3000del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407615.1:c.2995_3000del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407616.1:c.2998_3003del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407617.1:c.2998_3003del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407618.1:c.2998_3003del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407619.1:c.2998_3003del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407620.1:c.2998_3003del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407621.1:c.2998_3003del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407622.1:c.2998_3003del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407623.1:c.2998_3003del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407624.1:c.2998_3003del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407625.1:c.2998_3003del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407626.1:c.2998_3003del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407627.1:c.2995_3000del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407628.1:c.2995_3000del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407629.1:c.2995_3000del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407630.1:c.2995_3000del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407631.1:c.2995_3000del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407632.1:c.2995_3000del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407633.1:c.2995_3000del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407634.1:c.2995_3000del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407635.1:c.2995_3000del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407636.1:c.2995_3000del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407637.1:c.2995_3000del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407638.1:c.2995_3000del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407639.1:c.2998_3003del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407640.1:c.2998_3003del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407641.1:c.2998_3003del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407642.1:c.2998_3003del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407644.1:c.2995_3000del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407645.1:c.2995_3000del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407646.1:c.2989_2994del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407647.1:c.2989_2994del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407648.1:c.2875_2880del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407649.1:c.2872_2877del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407652.1:c.2998_3003del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407653.1:c.2920_2925del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407654.1:c.2920_2925del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407655.1:c.2920_2925del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407656.1:c.2920_2925del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407657.1:c.2920_2925del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407658.1:c.2920_2925del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407659.1:c.2917_2922del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407660.1:c.2917_2922del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407661.1:c.2917_2922del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407662.1:c.2917_2922del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407663.1:c.2920_2925del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407664.1:c.2875_2880del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407665.1:c.2875_2880del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407666.1:c.2875_2880del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407667.1:c.2875_2880del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407668.1:c.2875_2880del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407669.1:c.2875_2880del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407670.1:c.2872_2877del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407671.1:c.2872_2877del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407672.1:c.2872_2877del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407673.1:c.2872_2877del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407674.1:c.2875_2880del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407675.1:c.2875_2880del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407676.1:c.2875_2880del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407677.1:c.2875_2880del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407678.1:c.2875_2880del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407679.1:c.2875_2880del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407680.1:c.2875_2880del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407681.1:c.2875_2880del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407682.1:c.2875_2880del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407683.1:c.2875_2880del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407684.1:c.2998_3003del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407685.1:c.2872_2877del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407686.1:c.2872_2877del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407687.1:c.2872_2877del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407688.1:c.2872_2877del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407689.1:c.2872_2877del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407690.1:c.2872_2877del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407691.1:c.2872_2877del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407692.1:c.2857_2862del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407694.1:c.2857_2862del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407695.1:c.2857_2862del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407696.1:c.2857_2862del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407697.1:c.2857_2862del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407698.1:c.2857_2862del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407724.1:c.2857_2862del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407725.1:c.2857_2862del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407726.1:c.2857_2862del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407727.1:c.2857_2862del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407728.1:c.2857_2862del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407729.1:c.2857_2862del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407730.1:c.2857_2862del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407731.1:c.2857_2862del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407732.1:c.2857_2862del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407733.1:c.2857_2862del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407734.1:c.2857_2862del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407735.1:c.2857_2862del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407736.1:c.2857_2862del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407737.1:c.2857_2862del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407738.1:c.2857_2862del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407739.1:c.2857_2862del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407740.1:c.2854_2859del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407741.1:c.2854_2859del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407742.1:c.2854_2859del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407743.1:c.2854_2859del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407744.1:c.2854_2859del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407745.1:c.2854_2859del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407746.1:c.2854_2859del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407747.1:c.2854_2859del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407748.1:c.2854_2859del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407749.1:c.2854_2859del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407750.1:c.2857_2862del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407751.1:c.2857_2862del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407752.1:c.2857_2862del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407838.1:c.2854_2859del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407839.1:c.2854_2859del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407841.1:c.2854_2859del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407842.1:c.2854_2859del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407843.1:c.2854_2859del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407844.1:c.2854_2859del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407845.1:c.2854_2859del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407846.1:c.2854_2859del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407847.1:c.2854_2859del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407848.1:c.2854_2859del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407849.1:c.2854_2859del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407850.1:c.2857_2862del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407851.1:c.2857_2862del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407852.1:c.2857_2862del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407853.1:c.2785_2790del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407854.1:c.2998_3003del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407858.1:c.2998_3003del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407859.1:c.2998_3003del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407860.1:c.2995_3000del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407861.1:c.2995_3000del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407862.1:c.2797_2802del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407863.1:c.2875_2880del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407874.1:c.2794_2799del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407875.1:c.2794_2799del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407879.1:c.2788_2793del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407881.1:c.2788_2793del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407882.1:c.2788_2793del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407884.1:c.2788_2793del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407885.1:c.2788_2793del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407886.1:c.2788_2793del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407887.1:c.2788_2793del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407889.1:c.2788_2793del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407894.1:c.2785_2790del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407895.1:c.2785_2790del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407896.1:c.2785_2790del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407897.1:c.2785_2790del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407898.1:c.2785_2790del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407899.1:c.2785_2790del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407900.1:c.2788_2793del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407902.1:c.2788_2793del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407904.1:c.2788_2793del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407906.1:c.2788_2793del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407907.1:c.2788_2793del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407908.1:c.2788_2793del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407909.1:c.2788_2793del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407910.1:c.2788_2793del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407915.1:c.2785_2790del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407916.1:c.2785_2790del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407917.1:c.2785_2790del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407918.1:c.2785_2790del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407919.1:c.2875_2880del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407920.1:c.2734_2739del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407921.1:c.2734_2739del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407922.1:c.2734_2739del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407923.1:c.2734_2739del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407924.1:c.2734_2739del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407925.1:c.2734_2739del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407926.1:c.2734_2739del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407927.1:c.2734_2739del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407928.1:c.2734_2739del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407929.1:c.2734_2739del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407930.1:c.2731_2736del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407931.1:c.2731_2736del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407932.1:c.2731_2736del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407933.1:c.2734_2739del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407934.1:c.2731_2736del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407935.1:c.2734_2739del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407936.1:c.2731_2736del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407937.1:c.2875_2880del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407938.1:c.2875_2880del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407939.1:c.2875_2880del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407940.1:c.2872_2877del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407941.1:c.2872_2877del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407942.1:c.2857_2862del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407943.1:c.2854_2859del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407944.1:c.2857_2862del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407945.1:c.2857_2862del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407946.1:c.2665_2670del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407947.1:c.2665_2670del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407948.1:c.2665_2670del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407949.1:c.2665_2670del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407950.1:c.2665_2670del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407951.1:c.2665_2670del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407952.1:c.2665_2670del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407953.1:c.2665_2670del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407954.1:c.2662_2667del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407955.1:c.2662_2667del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407956.1:c.2662_2667del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407957.1:c.2665_2670del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407958.1:c.2662_2667del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407959.1:c.2617_2622del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407960.1:c.2617_2622del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407962.1:c.2614_2619del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407963.1:c.2617_2622del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407964.1:c.2854_2859del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407965.1:c.2494_2499del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407966.1:c.2110_2115del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407967.1:c.2110_2115del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_007294.4:c.2998_3003del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_007297.4:c.2857_2862del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_007300.4:c.2998_3003del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407968.1:c.788-394_788-389del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.788-394_788-389del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.788-1501_788-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.788-1501_788-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.785-1501_785-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.788-1501_788-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.788-1501_788-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.788-1501_788-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.788-1501_788-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.788-1501_788-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.788-1501_788-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.788-1501_788-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.788-1501_788-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.788-1501_788-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.788-1501_788-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.788-1501_788-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.785-1501_785-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.785-1501_785-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.785-1501_785-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.788-1501_788-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.785-1501_785-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.785-1501_785-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.788-1501_788-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.785-1501_785-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.785-1501_785-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.785-1501_785-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.785-1501_785-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.785-1501_785-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.785-1501_785-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.785-1501_785-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.785-1501_785-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.788-1501_788-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.788-1501_788-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.791-1510_791-1505del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.785-1501_785-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.779-1501_779-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.710-1501_710-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.647-1501_647-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.710-1501_710-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.710-1501_710-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.707-1501_707-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.710-1501_710-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.710-1501_710-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.707-1501_707-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-1501_671-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-1501_671-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-1501_671-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-1501_668-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-1501_671-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-1501_671-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-1501_668-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.665-1501_665-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.665-1501_665-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.665-1501_665-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.665-1501_665-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.665-1501_665-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.665-1501_665-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-1501_668-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.662-1501_662-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.662-1501_662-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.662-1501_662-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.662-1501_662-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.665-1501_665-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.665-1501_665-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.665-1501_665-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.665-1501_665-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.665-1501_665-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.665-1501_665-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.665-1501_665-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.665-1501_665-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.665-1501_665-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.662-1501_662-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.662-1501_662-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.662-1501_662-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.662-1501_662-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.662-1501_662-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.653-1501_653-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.647-1501_647-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.647-1501_647-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.647-1501_647-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.647-1501_647-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.647-1501_647-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.647-1501_647-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.647-1501_647-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.647-1501_647-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.647-1501_647-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.647-1501_647-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.644-1501_644-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.644-1501_644-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.644-1501_644-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.644-1501_644-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.647-1501_647-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.647-1501_647-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.644-1501_644-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.647-1501_647-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.644-1501_644-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.788-1501_788-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.785-1501_785-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.587-1501_587-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.584-1501_584-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.587-1501_587-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.578-1501_578-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.578-1501_578-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.578-1501_578-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.578-1501_578-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.578-1501_578-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.578-1501_578-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.578-1501_578-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.578-1501_578-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.578-1501_578-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.575-1501_575-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.575-1501_575-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.578-1501_578-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.575-1501_575-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-1501_548-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-1501_545-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.524-1501_524-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.524-1501_524-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.524-1501_524-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.524-1501_524-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.524-1501_524-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.524-1501_524-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.455-1501_455-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.521-1501_521-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.521-1501_521-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.521-1501_521-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-1501_461-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-1501_461-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.452-1501_452-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.452-1501_452-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.407-1501_407-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-1501_404-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.284-1501_284-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.578-1501_578-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.578-1501_578-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.788-1501_788-1496del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-1501_788-1496del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000918713Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Aug 22, 2024) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Prevalence of BRCA1 and BRCA2 gene mutations in patients with early-onset breast cancer.

Peto J, Collins N, Barfoot R, Seal S, Warren W, Rahman N, Easton DF, Evans C, Deacon J, Stratton MR.

J Natl Cancer Inst. 1999 Jun 2;91(11):943-9.

PubMed [citation]
PMID:
10359546

BRCA1 germline mutations and polymorphisms in a clinic-based series of ovarian cancer cases: a Gynecologic Oncology Group study.

Smith SA, Richards WE, Caito K, Hanjani P, Markman M, DeGeest K, Gallion HH.

Gynecol Oncol. 2001 Dec;83(3):586-92.

PubMed [citation]
PMID:
11733976
See all PubMed Citations (3)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000918713.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

Variant summary: BRCA1 c.2998_3003delGAGGAA (p.Glu1000_Glu1001del) results in an in-frame deletion that is predicted to remove two amino acids from the encoded protein. The variant allele was found at a frequency of 1.6e-05 in 251448 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.2998_3003delGAGGAA has been reported in the literature in individuals affected with Hereditary Breast And Ovarian Cancer Syndrome, without strong evidence for causality (Peto_1999, Smith_2001, Kang_2016). These reports do not provide unequivocal conclusions about association of the variant with Hereditary Breast And Ovarian Cancer Syndrome. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 10359546, 11733976, 27375968). ClinVar contains an entry for this variant (Variation ID: 54743). Based on the evidence outlined above, the variant was classified as uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024