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NM_007294.4(BRCA1):c.3228_3229del (p.Gly1077fs) AND Breast and/or ovarian cancer

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 17, 2020
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:
RCV001798030.10

Allele description [Variation Report for NM_007294.4(BRCA1):c.3228_3229del (p.Gly1077fs)]

NM_007294.4(BRCA1):c.3228_3229del (p.Gly1077fs)

Genes:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
LOC126862571:BRD4-independent group 4 enhancer GRCh37_chr17:41243136-41244335 [Gene]
Variant type:
Microsatellite
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.3228_3229del (p.Gly1077fs)
Other names:
3347_3348delAG; NP_009225.1:p.Gly1077AlafsTer8
HGVS:
  • NC_000017.10:g.41244319_41244320del
  • NC_000017.11:g.43092302CT[1]
  • NG_005905.2:g.125679AG[1]
  • NG_087068.1:g.1284CT[1]
  • NM_001407571.1:c.3015_3016del
  • NM_001407581.1:c.3228_3229del
  • NM_001407582.1:c.3228_3229del
  • NM_001407583.1:c.3228_3229del
  • NM_001407585.1:c.3228_3229del
  • NM_001407587.1:c.3225_3226del
  • NM_001407590.1:c.3225_3226del
  • NM_001407591.1:c.3225_3226del
  • NM_001407593.1:c.3228_3229del
  • NM_001407594.1:c.3228_3229del
  • NM_001407596.1:c.3228_3229del
  • NM_001407597.1:c.3228_3229del
  • NM_001407598.1:c.3228_3229del
  • NM_001407602.1:c.3228_3229del
  • NM_001407603.1:c.3228_3229del
  • NM_001407605.1:c.3228_3229del
  • NM_001407610.1:c.3225_3226del
  • NM_001407611.1:c.3225_3226del
  • NM_001407612.1:c.3225_3226del
  • NM_001407613.1:c.3225_3226del
  • NM_001407614.1:c.3225_3226del
  • NM_001407615.1:c.3225_3226del
  • NM_001407616.1:c.3228_3229del
  • NM_001407617.1:c.3228_3229del
  • NM_001407618.1:c.3228_3229del
  • NM_001407619.1:c.3228_3229del
  • NM_001407620.1:c.3228_3229del
  • NM_001407621.1:c.3228_3229del
  • NM_001407622.1:c.3228_3229del
  • NM_001407623.1:c.3228_3229del
  • NM_001407624.1:c.3228_3229del
  • NM_001407625.1:c.3228_3229del
  • NM_001407626.1:c.3228_3229del
  • NM_001407627.1:c.3225_3226del
  • NM_001407628.1:c.3225_3226del
  • NM_001407629.1:c.3225_3226del
  • NM_001407630.1:c.3225_3226del
  • NM_001407631.1:c.3225_3226del
  • NM_001407632.1:c.3225_3226del
  • NM_001407633.1:c.3225_3226del
  • NM_001407634.1:c.3225_3226del
  • NM_001407635.1:c.3225_3226del
  • NM_001407636.1:c.3225_3226del
  • NM_001407637.1:c.3225_3226del
  • NM_001407638.1:c.3225_3226del
  • NM_001407639.1:c.3228_3229del
  • NM_001407640.1:c.3228_3229del
  • NM_001407641.1:c.3228_3229del
  • NM_001407642.1:c.3228_3229del
  • NM_001407644.1:c.3225_3226del
  • NM_001407645.1:c.3225_3226del
  • NM_001407646.1:c.3219_3220del
  • NM_001407647.1:c.3219_3220del
  • NM_001407648.1:c.3105_3106del
  • NM_001407649.1:c.3102_3103del
  • NM_001407652.1:c.3228_3229del
  • NM_001407653.1:c.3150_3151del
  • NM_001407654.1:c.3150_3151del
  • NM_001407655.1:c.3150_3151del
  • NM_001407656.1:c.3150_3151del
  • NM_001407657.1:c.3150_3151del
  • NM_001407658.1:c.3150_3151del
  • NM_001407659.1:c.3147_3148del
  • NM_001407660.1:c.3147_3148del
  • NM_001407661.1:c.3147_3148del
  • NM_001407662.1:c.3147_3148del
  • NM_001407663.1:c.3150_3151del
  • NM_001407664.1:c.3105_3106del
  • NM_001407665.1:c.3105_3106del
  • NM_001407666.1:c.3105_3106del
  • NM_001407667.1:c.3105_3106del
  • NM_001407668.1:c.3105_3106del
  • NM_001407669.1:c.3105_3106del
  • NM_001407670.1:c.3102_3103del
  • NM_001407671.1:c.3102_3103del
  • NM_001407672.1:c.3102_3103del
  • NM_001407673.1:c.3102_3103del
  • NM_001407674.1:c.3105_3106del
  • NM_001407675.1:c.3105_3106del
  • NM_001407676.1:c.3105_3106del
  • NM_001407677.1:c.3105_3106del
  • NM_001407678.1:c.3105_3106del
  • NM_001407679.1:c.3105_3106del
  • NM_001407680.1:c.3105_3106del
  • NM_001407681.1:c.3105_3106del
  • NM_001407682.1:c.3105_3106del
  • NM_001407683.1:c.3105_3106del
  • NM_001407684.1:c.3228_3229del
  • NM_001407685.1:c.3102_3103del
  • NM_001407686.1:c.3102_3103del
  • NM_001407687.1:c.3102_3103del
  • NM_001407688.1:c.3102_3103del
  • NM_001407689.1:c.3102_3103del
  • NM_001407690.1:c.3102_3103del
  • NM_001407691.1:c.3102_3103del
  • NM_001407692.1:c.3087_3088del
  • NM_001407694.1:c.3087_3088del
  • NM_001407695.1:c.3087_3088del
  • NM_001407696.1:c.3087_3088del
  • NM_001407697.1:c.3087_3088del
  • NM_001407698.1:c.3087_3088del
  • NM_001407724.1:c.3087_3088del
  • NM_001407725.1:c.3087_3088del
  • NM_001407726.1:c.3087_3088del
  • NM_001407727.1:c.3087_3088del
  • NM_001407728.1:c.3087_3088del
  • NM_001407729.1:c.3087_3088del
  • NM_001407730.1:c.3087_3088del
  • NM_001407731.1:c.3087_3088del
  • NM_001407732.1:c.3087_3088del
  • NM_001407733.1:c.3087_3088del
  • NM_001407734.1:c.3087_3088del
  • NM_001407735.1:c.3087_3088del
  • NM_001407736.1:c.3087_3088del
  • NM_001407737.1:c.3087_3088del
  • NM_001407738.1:c.3087_3088del
  • NM_001407739.1:c.3087_3088del
  • NM_001407740.1:c.3084_3085del
  • NM_001407741.1:c.3084_3085del
  • NM_001407742.1:c.3084_3085del
  • NM_001407743.1:c.3084_3085del
  • NM_001407744.1:c.3084_3085del
  • NM_001407745.1:c.3084_3085del
  • NM_001407746.1:c.3084_3085del
  • NM_001407747.1:c.3084_3085del
  • NM_001407748.1:c.3084_3085del
  • NM_001407749.1:c.3084_3085del
  • NM_001407750.1:c.3087_3088del
  • NM_001407751.1:c.3087_3088del
  • NM_001407752.1:c.3087_3088del
  • NM_001407838.1:c.3084_3085del
  • NM_001407839.1:c.3084_3085del
  • NM_001407841.1:c.3084_3085del
  • NM_001407842.1:c.3084_3085del
  • NM_001407843.1:c.3084_3085del
  • NM_001407844.1:c.3084_3085del
  • NM_001407845.1:c.3084_3085del
  • NM_001407846.1:c.3084_3085del
  • NM_001407847.1:c.3084_3085del
  • NM_001407848.1:c.3084_3085del
  • NM_001407849.1:c.3084_3085del
  • NM_001407850.1:c.3087_3088del
  • NM_001407851.1:c.3087_3088del
  • NM_001407852.1:c.3087_3088del
  • NM_001407853.1:c.3015_3016del
  • NM_001407854.1:c.3228_3229del
  • NM_001407858.1:c.3228_3229del
  • NM_001407859.1:c.3228_3229del
  • NM_001407860.1:c.3225_3226del
  • NM_001407861.1:c.3225_3226del
  • NM_001407862.1:c.3027_3028del
  • NM_001407863.1:c.3105_3106del
  • NM_001407874.1:c.3024_3025del
  • NM_001407875.1:c.3024_3025del
  • NM_001407879.1:c.3018_3019del
  • NM_001407881.1:c.3018_3019del
  • NM_001407882.1:c.3018_3019del
  • NM_001407884.1:c.3018_3019del
  • NM_001407885.1:c.3018_3019del
  • NM_001407886.1:c.3018_3019del
  • NM_001407887.1:c.3018_3019del
  • NM_001407889.1:c.3018_3019del
  • NM_001407894.1:c.3015_3016del
  • NM_001407895.1:c.3015_3016del
  • NM_001407896.1:c.3015_3016del
  • NM_001407897.1:c.3015_3016del
  • NM_001407898.1:c.3015_3016del
  • NM_001407899.1:c.3015_3016del
  • NM_001407900.1:c.3018_3019del
  • NM_001407902.1:c.3018_3019del
  • NM_001407904.1:c.3018_3019del
  • NM_001407906.1:c.3018_3019del
  • NM_001407907.1:c.3018_3019del
  • NM_001407908.1:c.3018_3019del
  • NM_001407909.1:c.3018_3019del
  • NM_001407910.1:c.3018_3019del
  • NM_001407915.1:c.3015_3016del
  • NM_001407916.1:c.3015_3016del
  • NM_001407917.1:c.3015_3016del
  • NM_001407918.1:c.3015_3016del
  • NM_001407919.1:c.3105_3106del
  • NM_001407920.1:c.2964_2965del
  • NM_001407921.1:c.2964_2965del
  • NM_001407922.1:c.2964_2965del
  • NM_001407923.1:c.2964_2965del
  • NM_001407924.1:c.2964_2965del
  • NM_001407925.1:c.2964_2965del
  • NM_001407926.1:c.2964_2965del
  • NM_001407927.1:c.2964_2965del
  • NM_001407928.1:c.2964_2965del
  • NM_001407929.1:c.2964_2965del
  • NM_001407930.1:c.2961_2962del
  • NM_001407931.1:c.2961_2962del
  • NM_001407932.1:c.2961_2962del
  • NM_001407933.1:c.2964_2965del
  • NM_001407934.1:c.2961_2962del
  • NM_001407935.1:c.2964_2965del
  • NM_001407936.1:c.2961_2962del
  • NM_001407937.1:c.3105_3106del
  • NM_001407938.1:c.3105_3106del
  • NM_001407939.1:c.3105_3106del
  • NM_001407940.1:c.3102_3103del
  • NM_001407941.1:c.3102_3103del
  • NM_001407942.1:c.3087_3088del
  • NM_001407943.1:c.3084_3085del
  • NM_001407944.1:c.3087_3088del
  • NM_001407945.1:c.3087_3088del
  • NM_001407946.1:c.2895_2896del
  • NM_001407947.1:c.2895_2896del
  • NM_001407948.1:c.2895_2896del
  • NM_001407949.1:c.2895_2896del
  • NM_001407950.1:c.2895_2896del
  • NM_001407951.1:c.2895_2896del
  • NM_001407952.1:c.2895_2896del
  • NM_001407953.1:c.2895_2896del
  • NM_001407954.1:c.2892_2893del
  • NM_001407955.1:c.2892_2893del
  • NM_001407956.1:c.2892_2893del
  • NM_001407957.1:c.2895_2896del
  • NM_001407958.1:c.2892_2893del
  • NM_001407959.1:c.2847_2848del
  • NM_001407960.1:c.2847_2848del
  • NM_001407962.1:c.2844_2845del
  • NM_001407963.1:c.2847_2848del
  • NM_001407964.1:c.3084_3085del
  • NM_001407965.1:c.2724_2725del
  • NM_001407966.1:c.2340_2341del
  • NM_001407967.1:c.2340_2341del
  • NM_001407968.1:c.788-164_788-163del
  • NM_001407969.1:c.788-164_788-163del
  • NM_001407970.1:c.788-1271_788-1270del
  • NM_001407971.1:c.788-1271_788-1270del
  • NM_001407972.1:c.785-1271_785-1270del
  • NM_001407973.1:c.788-1271_788-1270del
  • NM_001407974.1:c.788-1271_788-1270del
  • NM_001407975.1:c.788-1271_788-1270del
  • NM_001407976.1:c.788-1271_788-1270del
  • NM_001407977.1:c.788-1271_788-1270del
  • NM_001407978.1:c.788-1271_788-1270del
  • NM_001407979.1:c.788-1271_788-1270del
  • NM_001407980.1:c.788-1271_788-1270del
  • NM_001407981.1:c.788-1271_788-1270del
  • NM_001407982.1:c.788-1271_788-1270del
  • NM_001407983.1:c.788-1271_788-1270del
  • NM_001407984.1:c.785-1271_785-1270del
  • NM_001407985.1:c.785-1271_785-1270del
  • NM_001407986.1:c.785-1271_785-1270del
  • NM_001407990.1:c.788-1271_788-1270del
  • NM_001407991.1:c.785-1271_785-1270del
  • NM_001407992.1:c.785-1271_785-1270del
  • NM_001407993.1:c.788-1271_788-1270del
  • NM_001408392.1:c.785-1271_785-1270del
  • NM_001408396.1:c.785-1271_785-1270del
  • NM_001408397.1:c.785-1271_785-1270del
  • NM_001408398.1:c.785-1271_785-1270del
  • NM_001408399.1:c.785-1271_785-1270del
  • NM_001408400.1:c.785-1271_785-1270del
  • NM_001408401.1:c.785-1271_785-1270del
  • NM_001408402.1:c.785-1271_785-1270del
  • NM_001408403.1:c.788-1271_788-1270del
  • NM_001408404.1:c.788-1271_788-1270del
  • NM_001408406.1:c.791-1280_791-1279del
  • NM_001408407.1:c.785-1271_785-1270del
  • NM_001408408.1:c.779-1271_779-1270del
  • NM_001408409.1:c.710-1271_710-1270del
  • NM_001408410.1:c.647-1271_647-1270del
  • NM_001408411.1:c.710-1271_710-1270del
  • NM_001408412.1:c.710-1271_710-1270del
  • NM_001408413.1:c.707-1271_707-1270del
  • NM_001408414.1:c.710-1271_710-1270del
  • NM_001408415.1:c.710-1271_710-1270del
  • NM_001408416.1:c.707-1271_707-1270del
  • NM_001408418.1:c.671-1271_671-1270del
  • NM_001408419.1:c.671-1271_671-1270del
  • NM_001408420.1:c.671-1271_671-1270del
  • NM_001408421.1:c.668-1271_668-1270del
  • NM_001408422.1:c.671-1271_671-1270del
  • NM_001408423.1:c.671-1271_671-1270del
  • NM_001408424.1:c.668-1271_668-1270del
  • NM_001408425.1:c.665-1271_665-1270del
  • NM_001408426.1:c.665-1271_665-1270del
  • NM_001408427.1:c.665-1271_665-1270del
  • NM_001408428.1:c.665-1271_665-1270del
  • NM_001408429.1:c.665-1271_665-1270del
  • NM_001408430.1:c.665-1271_665-1270del
  • NM_001408431.1:c.668-1271_668-1270del
  • NM_001408432.1:c.662-1271_662-1270del
  • NM_001408433.1:c.662-1271_662-1270del
  • NM_001408434.1:c.662-1271_662-1270del
  • NM_001408435.1:c.662-1271_662-1270del
  • NM_001408436.1:c.665-1271_665-1270del
  • NM_001408437.1:c.665-1271_665-1270del
  • NM_001408438.1:c.665-1271_665-1270del
  • NM_001408439.1:c.665-1271_665-1270del
  • NM_001408440.1:c.665-1271_665-1270del
  • NM_001408441.1:c.665-1271_665-1270del
  • NM_001408442.1:c.665-1271_665-1270del
  • NM_001408443.1:c.665-1271_665-1270del
  • NM_001408444.1:c.665-1271_665-1270del
  • NM_001408445.1:c.662-1271_662-1270del
  • NM_001408446.1:c.662-1271_662-1270del
  • NM_001408447.1:c.662-1271_662-1270del
  • NM_001408448.1:c.662-1271_662-1270del
  • NM_001408450.1:c.662-1271_662-1270del
  • NM_001408451.1:c.653-1271_653-1270del
  • NM_001408452.1:c.647-1271_647-1270del
  • NM_001408453.1:c.647-1271_647-1270del
  • NM_001408454.1:c.647-1271_647-1270del
  • NM_001408455.1:c.647-1271_647-1270del
  • NM_001408456.1:c.647-1271_647-1270del
  • NM_001408457.1:c.647-1271_647-1270del
  • NM_001408458.1:c.647-1271_647-1270del
  • NM_001408459.1:c.647-1271_647-1270del
  • NM_001408460.1:c.647-1271_647-1270del
  • NM_001408461.1:c.647-1271_647-1270del
  • NM_001408462.1:c.644-1271_644-1270del
  • NM_001408463.1:c.644-1271_644-1270del
  • NM_001408464.1:c.644-1271_644-1270del
  • NM_001408465.1:c.644-1271_644-1270del
  • NM_001408466.1:c.647-1271_647-1270del
  • NM_001408467.1:c.647-1271_647-1270del
  • NM_001408468.1:c.644-1271_644-1270del
  • NM_001408469.1:c.647-1271_647-1270del
  • NM_001408470.1:c.644-1271_644-1270del
  • NM_001408472.1:c.788-1271_788-1270del
  • NM_001408473.1:c.785-1271_785-1270del
  • NM_001408474.1:c.587-1271_587-1270del
  • NM_001408475.1:c.584-1271_584-1270del
  • NM_001408476.1:c.587-1271_587-1270del
  • NM_001408478.1:c.578-1271_578-1270del
  • NM_001408479.1:c.578-1271_578-1270del
  • NM_001408480.1:c.578-1271_578-1270del
  • NM_001408481.1:c.578-1271_578-1270del
  • NM_001408482.1:c.578-1271_578-1270del
  • NM_001408483.1:c.578-1271_578-1270del
  • NM_001408484.1:c.578-1271_578-1270del
  • NM_001408485.1:c.578-1271_578-1270del
  • NM_001408489.1:c.578-1271_578-1270del
  • NM_001408490.1:c.575-1271_575-1270del
  • NM_001408491.1:c.575-1271_575-1270del
  • NM_001408492.1:c.578-1271_578-1270del
  • NM_001408493.1:c.575-1271_575-1270del
  • NM_001408494.1:c.548-1271_548-1270del
  • NM_001408495.1:c.545-1271_545-1270del
  • NM_001408496.1:c.524-1271_524-1270del
  • NM_001408497.1:c.524-1271_524-1270del
  • NM_001408498.1:c.524-1271_524-1270del
  • NM_001408499.1:c.524-1271_524-1270del
  • NM_001408500.1:c.524-1271_524-1270del
  • NM_001408501.1:c.524-1271_524-1270del
  • NM_001408502.1:c.455-1271_455-1270del
  • NM_001408503.1:c.521-1271_521-1270del
  • NM_001408504.1:c.521-1271_521-1270del
  • NM_001408505.1:c.521-1271_521-1270del
  • NM_001408506.1:c.461-1271_461-1270del
  • NM_001408507.1:c.461-1271_461-1270del
  • NM_001408508.1:c.452-1271_452-1270del
  • NM_001408509.1:c.452-1271_452-1270del
  • NM_001408510.1:c.407-1271_407-1270del
  • NM_001408511.1:c.404-1271_404-1270del
  • NM_001408512.1:c.284-1271_284-1270del
  • NM_001408513.1:c.578-1271_578-1270del
  • NM_001408514.1:c.578-1271_578-1270del
  • NM_007294.4:c.3228_3229delMANE SELECT
  • NM_007297.4:c.3087_3088del
  • NM_007298.4:c.788-1271_788-1270del
  • NM_007299.4:c.788-1271_788-1270del
  • NM_007300.4:c.3228_3229del
  • NP_001394500.1:p.Gly1006fs
  • NP_001394510.1:p.Gly1077fs
  • NP_001394511.1:p.Gly1077fs
  • NP_001394512.1:p.Gly1077fs
  • NP_001394514.1:p.Gly1077fs
  • NP_001394516.1:p.Gly1076fs
  • NP_001394519.1:p.Gly1076fs
  • NP_001394520.1:p.Gly1076fs
  • NP_001394522.1:p.Gly1077fs
  • NP_001394523.1:p.Gly1077fs
  • NP_001394525.1:p.Gly1077fs
  • NP_001394526.1:p.Gly1077fs
  • NP_001394527.1:p.Gly1077fs
  • NP_001394531.1:p.Gly1077fs
  • NP_001394532.1:p.Gly1077fs
  • NP_001394534.1:p.Gly1077fs
  • NP_001394539.1:p.Gly1076fs
  • NP_001394540.1:p.Gly1076fs
  • NP_001394541.1:p.Gly1076fs
  • NP_001394542.1:p.Gly1076fs
  • NP_001394543.1:p.Gly1076fs
  • NP_001394544.1:p.Gly1076fs
  • NP_001394545.1:p.Gly1077fs
  • NP_001394546.1:p.Gly1077fs
  • NP_001394547.1:p.Gly1077fs
  • NP_001394548.1:p.Gly1077fs
  • NP_001394549.1:p.Gly1077fs
  • NP_001394550.1:p.Gly1077fs
  • NP_001394551.1:p.Gly1077fs
  • NP_001394552.1:p.Gly1077fs
  • NP_001394553.1:p.Gly1077fs
  • NP_001394554.1:p.Gly1077fs
  • NP_001394555.1:p.Gly1077fs
  • NP_001394556.1:p.Gly1076fs
  • NP_001394557.1:p.Gly1076fs
  • NP_001394558.1:p.Gly1076fs
  • NP_001394559.1:p.Gly1076fs
  • NP_001394560.1:p.Gly1076fs
  • NP_001394561.1:p.Gly1076fs
  • NP_001394562.1:p.Gly1076fs
  • NP_001394563.1:p.Gly1076fs
  • NP_001394564.1:p.Gly1076fs
  • NP_001394565.1:p.Gly1076fs
  • NP_001394566.1:p.Gly1076fs
  • NP_001394567.1:p.Gly1076fs
  • NP_001394568.1:p.Gly1077fs
  • NP_001394569.1:p.Gly1077fs
  • NP_001394570.1:p.Gly1077fs
  • NP_001394571.1:p.Gly1077fs
  • NP_001394573.1:p.Gly1076fs
  • NP_001394574.1:p.Gly1076fs
  • NP_001394575.1:p.Gly1074fs
  • NP_001394576.1:p.Gly1074fs
  • NP_001394577.1:p.Gly1036fs
  • NP_001394578.1:p.Gly1035fs
  • NP_001394581.1:p.Gly1077fs
  • NP_001394582.1:p.Gly1051fs
  • NP_001394583.1:p.Gly1051fs
  • NP_001394584.1:p.Gly1051fs
  • NP_001394585.1:p.Gly1051fs
  • NP_001394586.1:p.Gly1051fs
  • NP_001394587.1:p.Gly1051fs
  • NP_001394588.1:p.Gly1050fs
  • NP_001394589.1:p.Gly1050fs
  • NP_001394590.1:p.Gly1050fs
  • NP_001394591.1:p.Gly1050fs
  • NP_001394592.1:p.Gly1051fs
  • NP_001394593.1:p.Gly1036fs
  • NP_001394594.1:p.Gly1036fs
  • NP_001394595.1:p.Gly1036fs
  • NP_001394596.1:p.Gly1036fs
  • NP_001394597.1:p.Gly1036fs
  • NP_001394598.1:p.Gly1036fs
  • NP_001394599.1:p.Gly1035fs
  • NP_001394600.1:p.Gly1035fs
  • NP_001394601.1:p.Gly1035fs
  • NP_001394602.1:p.Gly1035fs
  • NP_001394603.1:p.Gly1036fs
  • NP_001394604.1:p.Gly1036fs
  • NP_001394605.1:p.Gly1036fs
  • NP_001394606.1:p.Gly1036fs
  • NP_001394607.1:p.Gly1036fs
  • NP_001394608.1:p.Gly1036fs
  • NP_001394609.1:p.Gly1036fs
  • NP_001394610.1:p.Gly1036fs
  • NP_001394611.1:p.Gly1036fs
  • NP_001394612.1:p.Gly1036fs
  • NP_001394613.1:p.Gly1077fs
  • NP_001394614.1:p.Gly1035fs
  • NP_001394615.1:p.Gly1035fs
  • NP_001394616.1:p.Gly1035fs
  • NP_001394617.1:p.Gly1035fs
  • NP_001394618.1:p.Gly1035fs
  • NP_001394619.1:p.Gly1035fs
  • NP_001394620.1:p.Gly1035fs
  • NP_001394621.1:p.Gly1030fs
  • NP_001394623.1:p.Gly1030fs
  • NP_001394624.1:p.Gly1030fs
  • NP_001394625.1:p.Gly1030fs
  • NP_001394626.1:p.Gly1030fs
  • NP_001394627.1:p.Gly1030fs
  • NP_001394653.1:p.Gly1030fs
  • NP_001394654.1:p.Gly1030fs
  • NP_001394655.1:p.Gly1030fs
  • NP_001394656.1:p.Gly1030fs
  • NP_001394657.1:p.Gly1030fs
  • NP_001394658.1:p.Gly1030fs
  • NP_001394659.1:p.Gly1030fs
  • NP_001394660.1:p.Gly1030fs
  • NP_001394661.1:p.Gly1030fs
  • NP_001394662.1:p.Gly1030fs
  • NP_001394663.1:p.Gly1030fs
  • NP_001394664.1:p.Gly1030fs
  • NP_001394665.1:p.Gly1030fs
  • NP_001394666.1:p.Gly1030fs
  • NP_001394667.1:p.Gly1030fs
  • NP_001394668.1:p.Gly1030fs
  • NP_001394669.1:p.Gly1029fs
  • NP_001394670.1:p.Gly1029fs
  • NP_001394671.1:p.Gly1029fs
  • NP_001394672.1:p.Gly1029fs
  • NP_001394673.1:p.Gly1029fs
  • NP_001394674.1:p.Gly1029fs
  • NP_001394675.1:p.Gly1029fs
  • NP_001394676.1:p.Gly1029fs
  • NP_001394677.1:p.Gly1029fs
  • NP_001394678.1:p.Gly1029fs
  • NP_001394679.1:p.Gly1030fs
  • NP_001394680.1:p.Gly1030fs
  • NP_001394681.1:p.Gly1030fs
  • NP_001394767.1:p.Gly1029fs
  • NP_001394768.1:p.Gly1029fs
  • NP_001394770.1:p.Gly1029fs
  • NP_001394771.1:p.Gly1029fs
  • NP_001394772.1:p.Gly1029fs
  • NP_001394773.1:p.Gly1029fs
  • NP_001394774.1:p.Gly1029fs
  • NP_001394775.1:p.Gly1029fs
  • NP_001394776.1:p.Gly1029fs
  • NP_001394777.1:p.Gly1029fs
  • NP_001394778.1:p.Gly1029fs
  • NP_001394779.1:p.Gly1030fs
  • NP_001394780.1:p.Gly1030fs
  • NP_001394781.1:p.Gly1030fs
  • NP_001394782.1:p.Gly1006fs
  • NP_001394783.1:p.Gly1077fs
  • NP_001394787.1:p.Gly1077fs
  • NP_001394788.1:p.Gly1077fs
  • NP_001394789.1:p.Gly1076fs
  • NP_001394790.1:p.Gly1076fs
  • NP_001394791.1:p.Gly1010fs
  • NP_001394792.1:p.Gly1036fs
  • NP_001394803.1:p.Gly1009fs
  • NP_001394804.1:p.Gly1009fs
  • NP_001394808.1:p.Gly1007fs
  • NP_001394810.1:p.Gly1007fs
  • NP_001394811.1:p.Gly1007fs
  • NP_001394813.1:p.Gly1007fs
  • NP_001394814.1:p.Gly1007fs
  • NP_001394815.1:p.Gly1007fs
  • NP_001394816.1:p.Gly1007fs
  • NP_001394818.1:p.Gly1007fs
  • NP_001394823.1:p.Gly1006fs
  • NP_001394824.1:p.Gly1006fs
  • NP_001394825.1:p.Gly1006fs
  • NP_001394826.1:p.Gly1006fs
  • NP_001394827.1:p.Gly1006fs
  • NP_001394828.1:p.Gly1006fs
  • NP_001394829.1:p.Gly1007fs
  • NP_001394831.1:p.Gly1007fs
  • NP_001394833.1:p.Gly1007fs
  • NP_001394835.1:p.Gly1007fs
  • NP_001394836.1:p.Gly1007fs
  • NP_001394837.1:p.Gly1007fs
  • NP_001394838.1:p.Gly1007fs
  • NP_001394839.1:p.Gly1007fs
  • NP_001394844.1:p.Gly1006fs
  • NP_001394845.1:p.Gly1006fs
  • NP_001394846.1:p.Gly1006fs
  • NP_001394847.1:p.Gly1006fs
  • NP_001394848.1:p.Gly1036fs
  • NP_001394849.1:p.Gly989fs
  • NP_001394850.1:p.Gly989fs
  • NP_001394851.1:p.Gly989fs
  • NP_001394852.1:p.Gly989fs
  • NP_001394853.1:p.Gly989fs
  • NP_001394854.1:p.Gly989fs
  • NP_001394855.1:p.Gly989fs
  • NP_001394856.1:p.Gly989fs
  • NP_001394857.1:p.Gly989fs
  • NP_001394858.1:p.Gly989fs
  • NP_001394859.1:p.Gly988fs
  • NP_001394860.1:p.Gly988fs
  • NP_001394861.1:p.Gly988fs
  • NP_001394862.1:p.Gly989fs
  • NP_001394863.1:p.Gly988fs
  • NP_001394864.1:p.Gly989fs
  • NP_001394865.1:p.Gly988fs
  • NP_001394866.1:p.Gly1036fs
  • NP_001394867.1:p.Gly1036fs
  • NP_001394868.1:p.Gly1036fs
  • NP_001394869.1:p.Gly1035fs
  • NP_001394870.1:p.Gly1035fs
  • NP_001394871.1:p.Gly1030fs
  • NP_001394872.1:p.Gly1029fs
  • NP_001394873.1:p.Gly1030fs
  • NP_001394874.1:p.Gly1030fs
  • NP_001394875.1:p.Gly966fs
  • NP_001394876.1:p.Gly966fs
  • NP_001394877.1:p.Gly966fs
  • NP_001394878.1:p.Gly966fs
  • NP_001394879.1:p.Gly966fs
  • NP_001394880.1:p.Gly966fs
  • NP_001394881.1:p.Gly966fs
  • NP_001394882.1:p.Gly966fs
  • NP_001394883.1:p.Gly965fs
  • NP_001394884.1:p.Gly965fs
  • NP_001394885.1:p.Gly965fs
  • NP_001394886.1:p.Gly966fs
  • NP_001394887.1:p.Gly965fs
  • NP_001394888.1:p.Gly950fs
  • NP_001394889.1:p.Gly950fs
  • NP_001394891.1:p.Gly949fs
  • NP_001394892.1:p.Gly950fs
  • NP_001394893.1:p.Gly1029fs
  • NP_001394894.1:p.Gly909fs
  • NP_001394895.1:p.Gly781fs
  • NP_001394896.1:p.Gly781fs
  • NP_009225.1:p.Gly1077Alafs
  • NP_009225.1:p.Gly1077fs
  • NP_009228.2:p.Gly1030fs
  • NP_009231.2:p.Gly1077fs
  • LRG_292t1:c.3226_3227AG[1]
  • LRG_292:g.125679AG[1]
  • LRG_292p1:p.Gly1077Alafs
  • NC_000017.10:g.41244319CT[1]
  • NC_000017.10:g.41244319_41244320del
  • NC_000017.10:g.41244319_41244320delCT
  • NC_000017.10:g.41244321_41244322del
  • NM_007294.3:c.3226_3227AG[1]
  • NM_007294.3:c.3228_3229delAG
  • NM_007294.4:c.3228_3229del
  • NM_007294.4:c.3228_3229delAG
  • NR_027676.1:n.3362_3363AG[1]
  • U14680.1:n.3347_3348delAG
  • p.G1076AfsX8
  • p.G1077Afs*8
  • p.Gly1077Alafs*8
Nucleotide change:
3347delAG
Protein change:
G1006fs
Links:
Breast Cancer Information Core (BIC) (BRCA1): 3347&base_change=del AG; dbSNP: rs80357635
NCBI 1000 Genomes Browser:
rs80357635
Molecular consequence:
  • NM_001407571.1:c.3015_3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407581.1:c.3228_3229del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407582.1:c.3228_3229del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407583.1:c.3228_3229del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407585.1:c.3228_3229del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407587.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407590.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407591.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407593.1:c.3228_3229del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407594.1:c.3228_3229del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407596.1:c.3228_3229del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407597.1:c.3228_3229del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407598.1:c.3228_3229del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407602.1:c.3228_3229del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407603.1:c.3228_3229del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407605.1:c.3228_3229del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407610.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407611.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407612.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407613.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407614.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407615.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407616.1:c.3228_3229del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407617.1:c.3228_3229del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407618.1:c.3228_3229del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407619.1:c.3228_3229del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407620.1:c.3228_3229del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407621.1:c.3228_3229del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407622.1:c.3228_3229del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407623.1:c.3228_3229del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407624.1:c.3228_3229del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407625.1:c.3228_3229del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407626.1:c.3228_3229del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407627.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407628.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407629.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407630.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407631.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407632.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407633.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407634.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407635.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407636.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407637.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407638.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407639.1:c.3228_3229del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407640.1:c.3228_3229del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407641.1:c.3228_3229del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407642.1:c.3228_3229del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407644.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407645.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407646.1:c.3219_3220del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407647.1:c.3219_3220del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407648.1:c.3105_3106del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407649.1:c.3102_3103del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407652.1:c.3228_3229del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407653.1:c.3150_3151del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407654.1:c.3150_3151del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407655.1:c.3150_3151del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407656.1:c.3150_3151del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407657.1:c.3150_3151del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407658.1:c.3150_3151del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407659.1:c.3147_3148del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407660.1:c.3147_3148del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407661.1:c.3147_3148del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407662.1:c.3147_3148del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407663.1:c.3150_3151del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407664.1:c.3105_3106del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407665.1:c.3105_3106del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407666.1:c.3105_3106del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407667.1:c.3105_3106del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407668.1:c.3105_3106del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407669.1:c.3105_3106del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407670.1:c.3102_3103del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407671.1:c.3102_3103del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407672.1:c.3102_3103del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407673.1:c.3102_3103del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407674.1:c.3105_3106del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407675.1:c.3105_3106del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407676.1:c.3105_3106del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407677.1:c.3105_3106del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407678.1:c.3105_3106del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407679.1:c.3105_3106del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407680.1:c.3105_3106del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407681.1:c.3105_3106del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407682.1:c.3105_3106del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407683.1:c.3105_3106del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407684.1:c.3228_3229del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407685.1:c.3102_3103del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407686.1:c.3102_3103del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407687.1:c.3102_3103del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407688.1:c.3102_3103del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407689.1:c.3102_3103del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407690.1:c.3102_3103del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407691.1:c.3102_3103del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407692.1:c.3087_3088del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407694.1:c.3087_3088del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407695.1:c.3087_3088del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407696.1:c.3087_3088del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407697.1:c.3087_3088del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407698.1:c.3087_3088del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407724.1:c.3087_3088del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407725.1:c.3087_3088del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407726.1:c.3087_3088del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407727.1:c.3087_3088del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407728.1:c.3087_3088del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407729.1:c.3087_3088del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407730.1:c.3087_3088del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407731.1:c.3087_3088del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407732.1:c.3087_3088del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407733.1:c.3087_3088del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407734.1:c.3087_3088del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407735.1:c.3087_3088del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407736.1:c.3087_3088del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407737.1:c.3087_3088del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407738.1:c.3087_3088del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407739.1:c.3087_3088del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407740.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407741.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407742.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407743.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407744.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407745.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407746.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407747.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407748.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407749.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407750.1:c.3087_3088del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407751.1:c.3087_3088del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407752.1:c.3087_3088del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407838.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407839.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407841.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407842.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407843.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407844.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407845.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407846.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407847.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407848.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407849.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407850.1:c.3087_3088del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407851.1:c.3087_3088del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407852.1:c.3087_3088del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407853.1:c.3015_3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407854.1:c.3228_3229del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407858.1:c.3228_3229del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407859.1:c.3228_3229del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407860.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407861.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407862.1:c.3027_3028del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407863.1:c.3105_3106del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407874.1:c.3024_3025del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407875.1:c.3024_3025del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407879.1:c.3018_3019del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407881.1:c.3018_3019del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407882.1:c.3018_3019del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407884.1:c.3018_3019del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407885.1:c.3018_3019del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407886.1:c.3018_3019del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407887.1:c.3018_3019del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407889.1:c.3018_3019del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407894.1:c.3015_3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407895.1:c.3015_3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407896.1:c.3015_3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407897.1:c.3015_3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407898.1:c.3015_3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407899.1:c.3015_3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407900.1:c.3018_3019del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407902.1:c.3018_3019del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407904.1:c.3018_3019del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407906.1:c.3018_3019del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407907.1:c.3018_3019del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407908.1:c.3018_3019del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407909.1:c.3018_3019del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407910.1:c.3018_3019del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407915.1:c.3015_3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407916.1:c.3015_3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407917.1:c.3015_3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407918.1:c.3015_3016del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407919.1:c.3105_3106del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407920.1:c.2964_2965del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407921.1:c.2964_2965del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407922.1:c.2964_2965del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407923.1:c.2964_2965del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407924.1:c.2964_2965del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407925.1:c.2964_2965del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407926.1:c.2964_2965del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407927.1:c.2964_2965del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407928.1:c.2964_2965del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407929.1:c.2964_2965del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407930.1:c.2961_2962del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407931.1:c.2961_2962del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407932.1:c.2961_2962del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407933.1:c.2964_2965del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407934.1:c.2961_2962del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407935.1:c.2964_2965del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407936.1:c.2961_2962del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407937.1:c.3105_3106del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407938.1:c.3105_3106del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407939.1:c.3105_3106del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407940.1:c.3102_3103del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407941.1:c.3102_3103del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407942.1:c.3087_3088del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407943.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407944.1:c.3087_3088del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407945.1:c.3087_3088del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407946.1:c.2895_2896del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407947.1:c.2895_2896del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407948.1:c.2895_2896del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407949.1:c.2895_2896del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407950.1:c.2895_2896del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407951.1:c.2895_2896del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407952.1:c.2895_2896del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407953.1:c.2895_2896del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407954.1:c.2892_2893del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407955.1:c.2892_2893del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407956.1:c.2892_2893del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407957.1:c.2895_2896del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407958.1:c.2892_2893del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407959.1:c.2847_2848del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407960.1:c.2847_2848del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407962.1:c.2844_2845del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407963.1:c.2847_2848del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407964.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407965.1:c.2724_2725del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407966.1:c.2340_2341del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407967.1:c.2340_2341del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007294.4:c.3228_3229del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007297.4:c.3087_3088del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007300.4:c.3228_3229del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407968.1:c.788-164_788-163del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.788-164_788-163del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.788-1271_788-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.788-1271_788-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.785-1271_785-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.788-1271_788-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.788-1271_788-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.788-1271_788-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.788-1271_788-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.788-1271_788-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.788-1271_788-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.788-1271_788-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.788-1271_788-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.788-1271_788-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.788-1271_788-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.788-1271_788-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.785-1271_785-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.785-1271_785-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.785-1271_785-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.788-1271_788-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.785-1271_785-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.785-1271_785-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.788-1271_788-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.785-1271_785-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.785-1271_785-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.785-1271_785-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.785-1271_785-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.785-1271_785-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.785-1271_785-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.785-1271_785-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.785-1271_785-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.788-1271_788-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.788-1271_788-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.791-1280_791-1279del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.785-1271_785-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.779-1271_779-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.710-1271_710-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.647-1271_647-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.710-1271_710-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.710-1271_710-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.707-1271_707-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.710-1271_710-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.710-1271_710-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.707-1271_707-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-1271_671-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-1271_671-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-1271_671-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-1271_668-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-1271_671-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-1271_671-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-1271_668-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.665-1271_665-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.665-1271_665-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.665-1271_665-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.665-1271_665-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.665-1271_665-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.665-1271_665-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-1271_668-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.662-1271_662-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.662-1271_662-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.662-1271_662-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.662-1271_662-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.665-1271_665-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.665-1271_665-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.665-1271_665-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.665-1271_665-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.665-1271_665-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.665-1271_665-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.665-1271_665-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.665-1271_665-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.665-1271_665-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.662-1271_662-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.662-1271_662-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.662-1271_662-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.662-1271_662-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.662-1271_662-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.653-1271_653-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.647-1271_647-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.647-1271_647-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.647-1271_647-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.647-1271_647-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.647-1271_647-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.647-1271_647-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.647-1271_647-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.647-1271_647-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.647-1271_647-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.647-1271_647-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.644-1271_644-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.644-1271_644-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.644-1271_644-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.644-1271_644-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.647-1271_647-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.647-1271_647-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.644-1271_644-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.647-1271_647-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.644-1271_644-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.788-1271_788-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.785-1271_785-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.587-1271_587-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.584-1271_584-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.587-1271_587-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.578-1271_578-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.578-1271_578-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.578-1271_578-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.578-1271_578-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.578-1271_578-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.578-1271_578-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.578-1271_578-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.578-1271_578-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.578-1271_578-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.575-1271_575-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.575-1271_575-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.578-1271_578-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.575-1271_575-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-1271_548-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-1271_545-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.524-1271_524-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.524-1271_524-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.524-1271_524-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.524-1271_524-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.524-1271_524-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.524-1271_524-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.455-1271_455-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.521-1271_521-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.521-1271_521-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.521-1271_521-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-1271_461-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-1271_461-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.452-1271_452-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.452-1271_452-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.407-1271_407-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-1271_404-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.284-1271_284-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.578-1271_578-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.578-1271_578-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.788-1271_788-1270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-1271_788-1270del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Breast and/or ovarian cancer
Identifiers:
MedGen: CN221562

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002043438CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jun 17, 2020) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario, SCV002043438.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024