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NM_007294.4(BRCA1):c.4029TGA[1] (p.Asp1344del) AND Familial cancer of breast

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV000577575.9

Allele description [Variation Report for NM_007294.4(BRCA1):c.4029TGA[1] (p.Asp1344del)]

NM_007294.4(BRCA1):c.4029TGA[1] (p.Asp1344del)

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.4029TGA[1] (p.Asp1344del)
HGVS:
  • NC_000017.11:g.43091499ATC[1]
  • NG_005905.2:g.126482TGA[1]
  • NG_087068.1:g.481ATC[1]
  • NM_001407571.1:c.3816TGA[1]
  • NM_001407581.1:c.4029TGA[1]
  • NM_001407582.1:c.4029TGA[1]
  • NM_001407583.1:c.4029TGA[1]
  • NM_001407585.1:c.4029TGA[1]
  • NM_001407587.1:c.4026TGA[1]
  • NM_001407590.1:c.4026TGA[1]
  • NM_001407591.1:c.4026TGA[1]
  • NM_001407593.1:c.4029TGA[1]
  • NM_001407594.1:c.4029TGA[1]
  • NM_001407596.1:c.4029TGA[1]
  • NM_001407597.1:c.4029TGA[1]
  • NM_001407598.1:c.4029TGA[1]
  • NM_001407602.1:c.4029TGA[1]
  • NM_001407603.1:c.4029TGA[1]
  • NM_001407605.1:c.4029TGA[1]
  • NM_001407610.1:c.4026TGA[1]
  • NM_001407611.1:c.4026TGA[1]
  • NM_001407612.1:c.4026TGA[1]
  • NM_001407613.1:c.4026TGA[1]
  • NM_001407614.1:c.4026TGA[1]
  • NM_001407615.1:c.4026TGA[1]
  • NM_001407616.1:c.4029TGA[1]
  • NM_001407617.1:c.4029TGA[1]
  • NM_001407618.1:c.4029TGA[1]
  • NM_001407619.1:c.4029TGA[1]
  • NM_001407620.1:c.4029TGA[1]
  • NM_001407621.1:c.4029TGA[1]
  • NM_001407622.1:c.4029TGA[1]
  • NM_001407623.1:c.4029TGA[1]
  • NM_001407624.1:c.4029TGA[1]
  • NM_001407625.1:c.4029TGA[1]
  • NM_001407626.1:c.4029TGA[1]
  • NM_001407627.1:c.4026TGA[1]
  • NM_001407628.1:c.4026TGA[1]
  • NM_001407629.1:c.4026TGA[1]
  • NM_001407630.1:c.4026TGA[1]
  • NM_001407631.1:c.4026TGA[1]
  • NM_001407632.1:c.4026TGA[1]
  • NM_001407633.1:c.4026TGA[1]
  • NM_001407634.1:c.4026TGA[1]
  • NM_001407635.1:c.4026TGA[1]
  • NM_001407636.1:c.4026TGA[1]
  • NM_001407637.1:c.4026TGA[1]
  • NM_001407638.1:c.4026TGA[1]
  • NM_001407639.1:c.4029TGA[1]
  • NM_001407640.1:c.4029TGA[1]
  • NM_001407641.1:c.4029TGA[1]
  • NM_001407642.1:c.4029TGA[1]
  • NM_001407644.1:c.4026TGA[1]
  • NM_001407645.1:c.4026TGA[1]
  • NM_001407646.1:c.4020TGA[1]
  • NM_001407647.1:c.4020TGA[1]
  • NM_001407648.1:c.3906TGA[1]
  • NM_001407649.1:c.3903TGA[1]
  • NM_001407652.1:c.4029TGA[1]
  • NM_001407653.1:c.3951TGA[1]
  • NM_001407654.1:c.3951TGA[1]
  • NM_001407655.1:c.3951TGA[1]
  • NM_001407656.1:c.3951TGA[1]
  • NM_001407657.1:c.3951TGA[1]
  • NM_001407658.1:c.3951TGA[1]
  • NM_001407659.1:c.3948TGA[1]
  • NM_001407660.1:c.3948TGA[1]
  • NM_001407661.1:c.3948TGA[1]
  • NM_001407662.1:c.3948TGA[1]
  • NM_001407663.1:c.3951TGA[1]
  • NM_001407664.1:c.3906TGA[1]
  • NM_001407665.1:c.3906TGA[1]
  • NM_001407666.1:c.3906TGA[1]
  • NM_001407667.1:c.3906TGA[1]
  • NM_001407668.1:c.3906TGA[1]
  • NM_001407669.1:c.3906TGA[1]
  • NM_001407670.1:c.3903TGA[1]
  • NM_001407671.1:c.3903TGA[1]
  • NM_001407672.1:c.3903TGA[1]
  • NM_001407673.1:c.3903TGA[1]
  • NM_001407674.1:c.3906TGA[1]
  • NM_001407675.1:c.3906TGA[1]
  • NM_001407676.1:c.3906TGA[1]
  • NM_001407677.1:c.3906TGA[1]
  • NM_001407678.1:c.3906TGA[1]
  • NM_001407679.1:c.3906TGA[1]
  • NM_001407680.1:c.3906TGA[1]
  • NM_001407681.1:c.3906TGA[1]
  • NM_001407682.1:c.3906TGA[1]
  • NM_001407683.1:c.3906TGA[1]
  • NM_001407684.1:c.4029TGA[1]
  • NM_001407685.1:c.3903TGA[1]
  • NM_001407686.1:c.3903TGA[1]
  • NM_001407687.1:c.3903TGA[1]
  • NM_001407688.1:c.3903TGA[1]
  • NM_001407689.1:c.3903TGA[1]
  • NM_001407690.1:c.3903TGA[1]
  • NM_001407691.1:c.3903TGA[1]
  • NM_001407692.1:c.3888TGA[1]
  • NM_001407694.1:c.3888TGA[1]
  • NM_001407695.1:c.3888TGA[1]
  • NM_001407696.1:c.3888TGA[1]
  • NM_001407697.1:c.3888TGA[1]
  • NM_001407698.1:c.3888TGA[1]
  • NM_001407724.1:c.3888TGA[1]
  • NM_001407725.1:c.3888TGA[1]
  • NM_001407726.1:c.3888TGA[1]
  • NM_001407727.1:c.3888TGA[1]
  • NM_001407728.1:c.3888TGA[1]
  • NM_001407729.1:c.3888TGA[1]
  • NM_001407730.1:c.3888TGA[1]
  • NM_001407731.1:c.3888TGA[1]
  • NM_001407732.1:c.3888TGA[1]
  • NM_001407733.1:c.3888TGA[1]
  • NM_001407734.1:c.3888TGA[1]
  • NM_001407735.1:c.3888TGA[1]
  • NM_001407736.1:c.3888TGA[1]
  • NM_001407737.1:c.3888TGA[1]
  • NM_001407738.1:c.3888TGA[1]
  • NM_001407739.1:c.3888TGA[1]
  • NM_001407740.1:c.3885TGA[1]
  • NM_001407741.1:c.3885TGA[1]
  • NM_001407742.1:c.3885TGA[1]
  • NM_001407743.1:c.3885TGA[1]
  • NM_001407744.1:c.3885TGA[1]
  • NM_001407745.1:c.3885TGA[1]
  • NM_001407746.1:c.3885TGA[1]
  • NM_001407747.1:c.3885TGA[1]
  • NM_001407748.1:c.3885TGA[1]
  • NM_001407749.1:c.3885TGA[1]
  • NM_001407750.1:c.3888TGA[1]
  • NM_001407751.1:c.3888TGA[1]
  • NM_001407752.1:c.3888TGA[1]
  • NM_001407838.1:c.3885TGA[1]
  • NM_001407839.1:c.3885TGA[1]
  • NM_001407841.1:c.3885TGA[1]
  • NM_001407842.1:c.3885TGA[1]
  • NM_001407843.1:c.3885TGA[1]
  • NM_001407844.1:c.3885TGA[1]
  • NM_001407845.1:c.3885TGA[1]
  • NM_001407846.1:c.3885TGA[1]
  • NM_001407847.1:c.3885TGA[1]
  • NM_001407848.1:c.3885TGA[1]
  • NM_001407849.1:c.3885TGA[1]
  • NM_001407850.1:c.3888TGA[1]
  • NM_001407851.1:c.3888TGA[1]
  • NM_001407852.1:c.3888TGA[1]
  • NM_001407853.1:c.3816TGA[1]
  • NM_001407854.1:c.4029TGA[1]
  • NM_001407858.1:c.4029TGA[1]
  • NM_001407859.1:c.4029TGA[1]
  • NM_001407860.1:c.4026TGA[1]
  • NM_001407861.1:c.4026TGA[1]
  • NM_001407862.1:c.3828TGA[1]
  • NM_001407863.1:c.3906TGA[1]
  • NM_001407874.1:c.3825TGA[1]
  • NM_001407875.1:c.3825TGA[1]
  • NM_001407879.1:c.3819TGA[1]
  • NM_001407881.1:c.3819TGA[1]
  • NM_001407882.1:c.3819TGA[1]
  • NM_001407884.1:c.3819TGA[1]
  • NM_001407885.1:c.3819TGA[1]
  • NM_001407886.1:c.3819TGA[1]
  • NM_001407887.1:c.3819TGA[1]
  • NM_001407889.1:c.3819TGA[1]
  • NM_001407894.1:c.3816TGA[1]
  • NM_001407895.1:c.3816TGA[1]
  • NM_001407896.1:c.3816TGA[1]
  • NM_001407897.1:c.3816TGA[1]
  • NM_001407898.1:c.3816TGA[1]
  • NM_001407899.1:c.3816TGA[1]
  • NM_001407900.1:c.3819TGA[1]
  • NM_001407902.1:c.3819TGA[1]
  • NM_001407904.1:c.3819TGA[1]
  • NM_001407906.1:c.3819TGA[1]
  • NM_001407907.1:c.3819TGA[1]
  • NM_001407908.1:c.3819TGA[1]
  • NM_001407909.1:c.3819TGA[1]
  • NM_001407910.1:c.3819TGA[1]
  • NM_001407915.1:c.3816TGA[1]
  • NM_001407916.1:c.3816TGA[1]
  • NM_001407917.1:c.3816TGA[1]
  • NM_001407918.1:c.3816TGA[1]
  • NM_001407919.1:c.3906TGA[1]
  • NM_001407920.1:c.3765TGA[1]
  • NM_001407921.1:c.3765TGA[1]
  • NM_001407922.1:c.3765TGA[1]
  • NM_001407923.1:c.3765TGA[1]
  • NM_001407924.1:c.3765TGA[1]
  • NM_001407925.1:c.3765TGA[1]
  • NM_001407926.1:c.3765TGA[1]
  • NM_001407927.1:c.3765TGA[1]
  • NM_001407928.1:c.3765TGA[1]
  • NM_001407929.1:c.3765TGA[1]
  • NM_001407930.1:c.3762TGA[1]
  • NM_001407931.1:c.3762TGA[1]
  • NM_001407932.1:c.3762TGA[1]
  • NM_001407933.1:c.3765TGA[1]
  • NM_001407934.1:c.3762TGA[1]
  • NM_001407935.1:c.3765TGA[1]
  • NM_001407936.1:c.3762TGA[1]
  • NM_001407937.1:c.3906TGA[1]
  • NM_001407938.1:c.3906TGA[1]
  • NM_001407939.1:c.3906TGA[1]
  • NM_001407940.1:c.3903TGA[1]
  • NM_001407941.1:c.3903TGA[1]
  • NM_001407942.1:c.3888TGA[1]
  • NM_001407943.1:c.3885TGA[1]
  • NM_001407944.1:c.3888TGA[1]
  • NM_001407945.1:c.3888TGA[1]
  • NM_001407946.1:c.3696TGA[1]
  • NM_001407947.1:c.3696TGA[1]
  • NM_001407948.1:c.3696TGA[1]
  • NM_001407949.1:c.3696TGA[1]
  • NM_001407950.1:c.3696TGA[1]
  • NM_001407951.1:c.3696TGA[1]
  • NM_001407952.1:c.3696TGA[1]
  • NM_001407953.1:c.3696TGA[1]
  • NM_001407954.1:c.3693TGA[1]
  • NM_001407955.1:c.3693TGA[1]
  • NM_001407956.1:c.3693TGA[1]
  • NM_001407957.1:c.3696TGA[1]
  • NM_001407958.1:c.3693TGA[1]
  • NM_001407959.1:c.3648TGA[1]
  • NM_001407960.1:c.3648TGA[1]
  • NM_001407962.1:c.3645TGA[1]
  • NM_001407963.1:c.3648TGA[1]
  • NM_001407964.1:c.3885TGA[1]
  • NM_001407965.1:c.3525TGA[1]
  • NM_001407966.1:c.3141TGA[1]
  • NM_001407967.1:c.3141TGA[1]
  • NM_001407968.1:c.1425TGA[1]
  • NM_001407969.1:c.1425TGA[1]
  • NM_001407970.1:c.788-467_788-465del
  • NM_001407971.1:c.788-467_788-465del
  • NM_001407972.1:c.785-467_785-465del
  • NM_001407973.1:c.788-467_788-465del
  • NM_001407974.1:c.788-467_788-465del
  • NM_001407975.1:c.788-467_788-465del
  • NM_001407976.1:c.788-467_788-465del
  • NM_001407977.1:c.788-467_788-465del
  • NM_001407978.1:c.788-467_788-465del
  • NM_001407979.1:c.788-467_788-465del
  • NM_001407980.1:c.788-467_788-465del
  • NM_001407981.1:c.788-467_788-465del
  • NM_001407982.1:c.788-467_788-465del
  • NM_001407983.1:c.788-467_788-465del
  • NM_001407984.1:c.785-467_785-465del
  • NM_001407985.1:c.785-467_785-465del
  • NM_001407986.1:c.785-467_785-465del
  • NM_001407990.1:c.788-467_788-465del
  • NM_001407991.1:c.785-467_785-465del
  • NM_001407992.1:c.785-467_785-465del
  • NM_001407993.1:c.788-467_788-465del
  • NM_001408392.1:c.785-467_785-465del
  • NM_001408396.1:c.785-467_785-465del
  • NM_001408397.1:c.785-467_785-465del
  • NM_001408398.1:c.785-467_785-465del
  • NM_001408399.1:c.785-467_785-465del
  • NM_001408400.1:c.785-467_785-465del
  • NM_001408401.1:c.785-467_785-465del
  • NM_001408402.1:c.785-467_785-465del
  • NM_001408403.1:c.788-467_788-465del
  • NM_001408404.1:c.788-467_788-465del
  • NM_001408406.1:c.791-476_791-474del
  • NM_001408407.1:c.785-467_785-465del
  • NM_001408408.1:c.779-467_779-465del
  • NM_001408409.1:c.710-467_710-465del
  • NM_001408410.1:c.647-467_647-465del
  • NM_001408411.1:c.710-467_710-465del
  • NM_001408412.1:c.710-467_710-465del
  • NM_001408413.1:c.707-467_707-465del
  • NM_001408414.1:c.710-467_710-465del
  • NM_001408415.1:c.710-467_710-465del
  • NM_001408416.1:c.707-467_707-465del
  • NM_001408418.1:c.671-467_671-465del
  • NM_001408419.1:c.671-467_671-465del
  • NM_001408420.1:c.671-467_671-465del
  • NM_001408421.1:c.668-467_668-465del
  • NM_001408422.1:c.671-467_671-465del
  • NM_001408423.1:c.671-467_671-465del
  • NM_001408424.1:c.668-467_668-465del
  • NM_001408425.1:c.665-467_665-465del
  • NM_001408426.1:c.665-467_665-465del
  • NM_001408427.1:c.665-467_665-465del
  • NM_001408428.1:c.665-467_665-465del
  • NM_001408429.1:c.665-467_665-465del
  • NM_001408430.1:c.665-467_665-465del
  • NM_001408431.1:c.668-467_668-465del
  • NM_001408432.1:c.662-467_662-465del
  • NM_001408433.1:c.662-467_662-465del
  • NM_001408434.1:c.662-467_662-465del
  • NM_001408435.1:c.662-467_662-465del
  • NM_001408436.1:c.665-467_665-465del
  • NM_001408437.1:c.665-467_665-465del
  • NM_001408438.1:c.665-467_665-465del
  • NM_001408439.1:c.665-467_665-465del
  • NM_001408440.1:c.665-467_665-465del
  • NM_001408441.1:c.665-467_665-465del
  • NM_001408442.1:c.665-467_665-465del
  • NM_001408443.1:c.665-467_665-465del
  • NM_001408444.1:c.665-467_665-465del
  • NM_001408445.1:c.662-467_662-465del
  • NM_001408446.1:c.662-467_662-465del
  • NM_001408447.1:c.662-467_662-465del
  • NM_001408448.1:c.662-467_662-465del
  • NM_001408450.1:c.662-467_662-465del
  • NM_001408451.1:c.653-467_653-465del
  • NM_001408452.1:c.647-467_647-465del
  • NM_001408453.1:c.647-467_647-465del
  • NM_001408454.1:c.647-467_647-465del
  • NM_001408455.1:c.647-467_647-465del
  • NM_001408456.1:c.647-467_647-465del
  • NM_001408457.1:c.647-467_647-465del
  • NM_001408458.1:c.647-467_647-465del
  • NM_001408459.1:c.647-467_647-465del
  • NM_001408460.1:c.647-467_647-465del
  • NM_001408461.1:c.647-467_647-465del
  • NM_001408462.1:c.644-467_644-465del
  • NM_001408463.1:c.644-467_644-465del
  • NM_001408464.1:c.644-467_644-465del
  • NM_001408465.1:c.644-467_644-465del
  • NM_001408466.1:c.647-467_647-465del
  • NM_001408467.1:c.647-467_647-465del
  • NM_001408468.1:c.644-467_644-465del
  • NM_001408469.1:c.647-467_647-465del
  • NM_001408470.1:c.644-467_644-465del
  • NM_001408472.1:c.788-467_788-465del
  • NM_001408473.1:c.785-467_785-465del
  • NM_001408474.1:c.587-467_587-465del
  • NM_001408475.1:c.584-467_584-465del
  • NM_001408476.1:c.587-467_587-465del
  • NM_001408478.1:c.578-467_578-465del
  • NM_001408479.1:c.578-467_578-465del
  • NM_001408480.1:c.578-467_578-465del
  • NM_001408481.1:c.578-467_578-465del
  • NM_001408482.1:c.578-467_578-465del
  • NM_001408483.1:c.578-467_578-465del
  • NM_001408484.1:c.578-467_578-465del
  • NM_001408485.1:c.578-467_578-465del
  • NM_001408489.1:c.578-467_578-465del
  • NM_001408490.1:c.575-467_575-465del
  • NM_001408491.1:c.575-467_575-465del
  • NM_001408492.1:c.578-467_578-465del
  • NM_001408493.1:c.575-467_575-465del
  • NM_001408494.1:c.548-467_548-465del
  • NM_001408495.1:c.545-467_545-465del
  • NM_001408496.1:c.524-467_524-465del
  • NM_001408497.1:c.524-467_524-465del
  • NM_001408498.1:c.524-467_524-465del
  • NM_001408499.1:c.524-467_524-465del
  • NM_001408500.1:c.524-467_524-465del
  • NM_001408501.1:c.524-467_524-465del
  • NM_001408502.1:c.455-467_455-465del
  • NM_001408503.1:c.521-467_521-465del
  • NM_001408504.1:c.521-467_521-465del
  • NM_001408505.1:c.521-467_521-465del
  • NM_001408506.1:c.461-467_461-465del
  • NM_001408507.1:c.461-467_461-465del
  • NM_001408508.1:c.452-467_452-465del
  • NM_001408509.1:c.452-467_452-465del
  • NM_001408510.1:c.407-467_407-465del
  • NM_001408511.1:c.404-467_404-465del
  • NM_001408512.1:c.284-467_284-465del
  • NM_001408513.1:c.578-467_578-465del
  • NM_001408514.1:c.578-467_578-465del
  • NM_007294.4:c.4029TGA[1]MANE SELECT
  • NM_007297.4:c.3888TGA[1]
  • NM_007298.4:c.788-467_788-465del
  • NM_007299.4:c.788-467_788-465del
  • NM_007300.4:c.4029TGA[1]
  • NP_001394500.1:p.Asp1273del
  • NP_001394510.1:p.Asp1344del
  • NP_001394511.1:p.Asp1344del
  • NP_001394512.1:p.Asp1344del
  • NP_001394514.1:p.Asp1344del
  • NP_001394516.1:p.Asp1343del
  • NP_001394519.1:p.Asp1343del
  • NP_001394520.1:p.Asp1343del
  • NP_001394522.1:p.Asp1344del
  • NP_001394523.1:p.Asp1344del
  • NP_001394525.1:p.Asp1344del
  • NP_001394526.1:p.Asp1344del
  • NP_001394527.1:p.Asp1344del
  • NP_001394531.1:p.Asp1344del
  • NP_001394532.1:p.Asp1344del
  • NP_001394534.1:p.Asp1344del
  • NP_001394539.1:p.Asp1343del
  • NP_001394540.1:p.Asp1343del
  • NP_001394541.1:p.Asp1343del
  • NP_001394542.1:p.Asp1343del
  • NP_001394543.1:p.Asp1343del
  • NP_001394544.1:p.Asp1343del
  • NP_001394545.1:p.Asp1344del
  • NP_001394546.1:p.Asp1344del
  • NP_001394547.1:p.Asp1344del
  • NP_001394548.1:p.Asp1344del
  • NP_001394549.1:p.Asp1344del
  • NP_001394550.1:p.Asp1344del
  • NP_001394551.1:p.Asp1344del
  • NP_001394552.1:p.Asp1344del
  • NP_001394553.1:p.Asp1344del
  • NP_001394554.1:p.Asp1344del
  • NP_001394555.1:p.Asp1344del
  • NP_001394556.1:p.Asp1343del
  • NP_001394557.1:p.Asp1343del
  • NP_001394558.1:p.Asp1343del
  • NP_001394559.1:p.Asp1343del
  • NP_001394560.1:p.Asp1343del
  • NP_001394561.1:p.Asp1343del
  • NP_001394562.1:p.Asp1343del
  • NP_001394563.1:p.Asp1343del
  • NP_001394564.1:p.Asp1343del
  • NP_001394565.1:p.Asp1343del
  • NP_001394566.1:p.Asp1343del
  • NP_001394567.1:p.Asp1343del
  • NP_001394568.1:p.Asp1344del
  • NP_001394569.1:p.Asp1344del
  • NP_001394570.1:p.Asp1344del
  • NP_001394571.1:p.Asp1344del
  • NP_001394573.1:p.Asp1343del
  • NP_001394574.1:p.Asp1343del
  • NP_001394575.1:p.Asp1341del
  • NP_001394576.1:p.Asp1341del
  • NP_001394577.1:p.Asp1303del
  • NP_001394578.1:p.Asp1302del
  • NP_001394581.1:p.Asp1344del
  • NP_001394582.1:p.Asp1318del
  • NP_001394583.1:p.Asp1318del
  • NP_001394584.1:p.Asp1318del
  • NP_001394585.1:p.Asp1318del
  • NP_001394586.1:p.Asp1318del
  • NP_001394587.1:p.Asp1318del
  • NP_001394588.1:p.Asp1317del
  • NP_001394589.1:p.Asp1317del
  • NP_001394590.1:p.Asp1317del
  • NP_001394591.1:p.Asp1317del
  • NP_001394592.1:p.Asp1318del
  • NP_001394593.1:p.Asp1303del
  • NP_001394594.1:p.Asp1303del
  • NP_001394595.1:p.Asp1303del
  • NP_001394596.1:p.Asp1303del
  • NP_001394597.1:p.Asp1303del
  • NP_001394598.1:p.Asp1303del
  • NP_001394599.1:p.Asp1302del
  • NP_001394600.1:p.Asp1302del
  • NP_001394601.1:p.Asp1302del
  • NP_001394602.1:p.Asp1302del
  • NP_001394603.1:p.Asp1303del
  • NP_001394604.1:p.Asp1303del
  • NP_001394605.1:p.Asp1303del
  • NP_001394606.1:p.Asp1303del
  • NP_001394607.1:p.Asp1303del
  • NP_001394608.1:p.Asp1303del
  • NP_001394609.1:p.Asp1303del
  • NP_001394610.1:p.Asp1303del
  • NP_001394611.1:p.Asp1303del
  • NP_001394612.1:p.Asp1303del
  • NP_001394613.1:p.Asp1344del
  • NP_001394614.1:p.Asp1302del
  • NP_001394615.1:p.Asp1302del
  • NP_001394616.1:p.Asp1302del
  • NP_001394617.1:p.Asp1302del
  • NP_001394618.1:p.Asp1302del
  • NP_001394619.1:p.Asp1302del
  • NP_001394620.1:p.Asp1302del
  • NP_001394621.1:p.Asp1297del
  • NP_001394623.1:p.Asp1297del
  • NP_001394624.1:p.Asp1297del
  • NP_001394625.1:p.Asp1297del
  • NP_001394626.1:p.Asp1297del
  • NP_001394627.1:p.Asp1297del
  • NP_001394653.1:p.Asp1297del
  • NP_001394654.1:p.Asp1297del
  • NP_001394655.1:p.Asp1297del
  • NP_001394656.1:p.Asp1297del
  • NP_001394657.1:p.Asp1297del
  • NP_001394658.1:p.Asp1297del
  • NP_001394659.1:p.Asp1297del
  • NP_001394660.1:p.Asp1297del
  • NP_001394661.1:p.Asp1297del
  • NP_001394662.1:p.Asp1297del
  • NP_001394663.1:p.Asp1297del
  • NP_001394664.1:p.Asp1297del
  • NP_001394665.1:p.Asp1297del
  • NP_001394666.1:p.Asp1297del
  • NP_001394667.1:p.Asp1297del
  • NP_001394668.1:p.Asp1297del
  • NP_001394669.1:p.Asp1296del
  • NP_001394670.1:p.Asp1296del
  • NP_001394671.1:p.Asp1296del
  • NP_001394672.1:p.Asp1296del
  • NP_001394673.1:p.Asp1296del
  • NP_001394674.1:p.Asp1296del
  • NP_001394675.1:p.Asp1296del
  • NP_001394676.1:p.Asp1296del
  • NP_001394677.1:p.Asp1296del
  • NP_001394678.1:p.Asp1296del
  • NP_001394679.1:p.Asp1297del
  • NP_001394680.1:p.Asp1297del
  • NP_001394681.1:p.Asp1297del
  • NP_001394767.1:p.Asp1296del
  • NP_001394768.1:p.Asp1296del
  • NP_001394770.1:p.Asp1296del
  • NP_001394771.1:p.Asp1296del
  • NP_001394772.1:p.Asp1296del
  • NP_001394773.1:p.Asp1296del
  • NP_001394774.1:p.Asp1296del
  • NP_001394775.1:p.Asp1296del
  • NP_001394776.1:p.Asp1296del
  • NP_001394777.1:p.Asp1296del
  • NP_001394778.1:p.Asp1296del
  • NP_001394779.1:p.Asp1297del
  • NP_001394780.1:p.Asp1297del
  • NP_001394781.1:p.Asp1297del
  • NP_001394782.1:p.Asp1273del
  • NP_001394783.1:p.Asp1344del
  • NP_001394787.1:p.Asp1344del
  • NP_001394788.1:p.Asp1344del
  • NP_001394789.1:p.Asp1343del
  • NP_001394790.1:p.Asp1343del
  • NP_001394791.1:p.Asp1277del
  • NP_001394792.1:p.Asp1303del
  • NP_001394803.1:p.Asp1276del
  • NP_001394804.1:p.Asp1276del
  • NP_001394808.1:p.Asp1274del
  • NP_001394810.1:p.Asp1274del
  • NP_001394811.1:p.Asp1274del
  • NP_001394813.1:p.Asp1274del
  • NP_001394814.1:p.Asp1274del
  • NP_001394815.1:p.Asp1274del
  • NP_001394816.1:p.Asp1274del
  • NP_001394818.1:p.Asp1274del
  • NP_001394823.1:p.Asp1273del
  • NP_001394824.1:p.Asp1273del
  • NP_001394825.1:p.Asp1273del
  • NP_001394826.1:p.Asp1273del
  • NP_001394827.1:p.Asp1273del
  • NP_001394828.1:p.Asp1273del
  • NP_001394829.1:p.Asp1274del
  • NP_001394831.1:p.Asp1274del
  • NP_001394833.1:p.Asp1274del
  • NP_001394835.1:p.Asp1274del
  • NP_001394836.1:p.Asp1274del
  • NP_001394837.1:p.Asp1274del
  • NP_001394838.1:p.Asp1274del
  • NP_001394839.1:p.Asp1274del
  • NP_001394844.1:p.Asp1273del
  • NP_001394845.1:p.Asp1273del
  • NP_001394846.1:p.Asp1273del
  • NP_001394847.1:p.Asp1273del
  • NP_001394848.1:p.Asp1303del
  • NP_001394849.1:p.Asp1256del
  • NP_001394850.1:p.Asp1256del
  • NP_001394851.1:p.Asp1256del
  • NP_001394852.1:p.Asp1256del
  • NP_001394853.1:p.Asp1256del
  • NP_001394854.1:p.Asp1256del
  • NP_001394855.1:p.Asp1256del
  • NP_001394856.1:p.Asp1256del
  • NP_001394857.1:p.Asp1256del
  • NP_001394858.1:p.Asp1256del
  • NP_001394859.1:p.Asp1255del
  • NP_001394860.1:p.Asp1255del
  • NP_001394861.1:p.Asp1255del
  • NP_001394862.1:p.Asp1256del
  • NP_001394863.1:p.Asp1255del
  • NP_001394864.1:p.Asp1256del
  • NP_001394865.1:p.Asp1255del
  • NP_001394866.1:p.Asp1303del
  • NP_001394867.1:p.Asp1303del
  • NP_001394868.1:p.Asp1303del
  • NP_001394869.1:p.Asp1302del
  • NP_001394870.1:p.Asp1302del
  • NP_001394871.1:p.Asp1297del
  • NP_001394872.1:p.Asp1296del
  • NP_001394873.1:p.Asp1297del
  • NP_001394874.1:p.Asp1297del
  • NP_001394875.1:p.Asp1233del
  • NP_001394876.1:p.Asp1233del
  • NP_001394877.1:p.Asp1233del
  • NP_001394878.1:p.Asp1233del
  • NP_001394879.1:p.Asp1233del
  • NP_001394880.1:p.Asp1233del
  • NP_001394881.1:p.Asp1233del
  • NP_001394882.1:p.Asp1233del
  • NP_001394883.1:p.Asp1232del
  • NP_001394884.1:p.Asp1232del
  • NP_001394885.1:p.Asp1232del
  • NP_001394886.1:p.Asp1233del
  • NP_001394887.1:p.Asp1232del
  • NP_001394888.1:p.Asp1217del
  • NP_001394889.1:p.Asp1217del
  • NP_001394891.1:p.Asp1216del
  • NP_001394892.1:p.Asp1217del
  • NP_001394893.1:p.Asp1296del
  • NP_001394894.1:p.Asp1176del
  • NP_001394895.1:p.Asp1048del
  • NP_001394896.1:p.Asp1048del
  • NP_001394897.1:p.Asp476del
  • NP_001394898.1:p.Asp476del
  • NP_009225.1:p.Asp1344del
  • NP_009225.1:p.Asp1344del
  • NP_009228.2:p.Asp1297del
  • NP_009231.2:p.Asp1344del
  • LRG_292t1:c.4027_4029GAT[1]
  • LRG_292:g.126482TGA[1]
  • LRG_292p1:p.Asp1344del
  • NC_000017.10:g.41243514_41243516del
  • NC_000017.10:g.41243516ATC[1]
  • NM_007294.3:c.4027_4029GAT[1]
  • NM_007294.3:c.4032_4034del
  • NM_007294.3:c.4032_4034del
  • NM_007294.3:c.4032_4034delTGA
  • NM_007294.4:c.4032_4034delMANE SELECT
  • NR_027676.1:n.4163_4165GAT[1]
Protein change:
D1048del
Links:
dbSNP: rs397509129
NCBI 1000 Genomes Browser:
rs397509129
Molecular consequence:
  • NM_001407571.1:c.3816TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407581.1:c.4029TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407582.1:c.4029TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407583.1:c.4029TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407585.1:c.4029TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407587.1:c.4026TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407590.1:c.4026TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407591.1:c.4026TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407593.1:c.4029TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407594.1:c.4029TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407596.1:c.4029TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407597.1:c.4029TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407598.1:c.4029TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407602.1:c.4029TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407603.1:c.4029TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407605.1:c.4029TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407610.1:c.4026TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407611.1:c.4026TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407612.1:c.4026TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407613.1:c.4026TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407614.1:c.4026TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407615.1:c.4026TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407616.1:c.4029TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407617.1:c.4029TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407618.1:c.4029TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407619.1:c.4029TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407620.1:c.4029TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407621.1:c.4029TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407622.1:c.4029TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407623.1:c.4029TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407624.1:c.4029TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407625.1:c.4029TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407626.1:c.4029TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407627.1:c.4026TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407628.1:c.4026TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407629.1:c.4026TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407630.1:c.4026TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407631.1:c.4026TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407632.1:c.4026TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407633.1:c.4026TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407634.1:c.4026TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407635.1:c.4026TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407636.1:c.4026TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407637.1:c.4026TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407638.1:c.4026TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407639.1:c.4029TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407640.1:c.4029TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407641.1:c.4029TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407642.1:c.4029TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407644.1:c.4026TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407645.1:c.4026TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407646.1:c.4020TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407647.1:c.4020TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407648.1:c.3906TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407649.1:c.3903TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407652.1:c.4029TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407653.1:c.3951TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407654.1:c.3951TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407655.1:c.3951TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407656.1:c.3951TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407657.1:c.3951TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407658.1:c.3951TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407659.1:c.3948TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407660.1:c.3948TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407661.1:c.3948TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407662.1:c.3948TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407663.1:c.3951TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407664.1:c.3906TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407665.1:c.3906TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407666.1:c.3906TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407667.1:c.3906TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407668.1:c.3906TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407669.1:c.3906TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407670.1:c.3903TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407671.1:c.3903TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407672.1:c.3903TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407673.1:c.3903TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407674.1:c.3906TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407675.1:c.3906TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407676.1:c.3906TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407677.1:c.3906TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407678.1:c.3906TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407679.1:c.3906TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407680.1:c.3906TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407681.1:c.3906TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407682.1:c.3906TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407683.1:c.3906TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407684.1:c.4029TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407685.1:c.3903TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407686.1:c.3903TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407687.1:c.3903TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407688.1:c.3903TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407689.1:c.3903TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407690.1:c.3903TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407691.1:c.3903TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407692.1:c.3888TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407694.1:c.3888TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407695.1:c.3888TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407696.1:c.3888TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407697.1:c.3888TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407698.1:c.3888TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407724.1:c.3888TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407725.1:c.3888TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407726.1:c.3888TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407727.1:c.3888TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407728.1:c.3888TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407729.1:c.3888TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407730.1:c.3888TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407731.1:c.3888TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407732.1:c.3888TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407733.1:c.3888TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407734.1:c.3888TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407735.1:c.3888TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407736.1:c.3888TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407737.1:c.3888TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407738.1:c.3888TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407739.1:c.3888TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407740.1:c.3885TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407741.1:c.3885TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407742.1:c.3885TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407743.1:c.3885TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407744.1:c.3885TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407745.1:c.3885TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407746.1:c.3885TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407747.1:c.3885TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407748.1:c.3885TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407749.1:c.3885TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407750.1:c.3888TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407751.1:c.3888TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407752.1:c.3888TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407838.1:c.3885TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407839.1:c.3885TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407841.1:c.3885TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407842.1:c.3885TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407843.1:c.3885TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407844.1:c.3885TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407845.1:c.3885TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407846.1:c.3885TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407847.1:c.3885TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407848.1:c.3885TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407849.1:c.3885TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407850.1:c.3888TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407851.1:c.3888TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407852.1:c.3888TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407853.1:c.3816TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407854.1:c.4029TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407858.1:c.4029TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407859.1:c.4029TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407860.1:c.4026TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407861.1:c.4026TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407862.1:c.3828TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407863.1:c.3906TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407874.1:c.3825TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407875.1:c.3825TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407879.1:c.3819TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407881.1:c.3819TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407882.1:c.3819TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407884.1:c.3819TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407885.1:c.3819TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407886.1:c.3819TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407887.1:c.3819TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407889.1:c.3819TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407894.1:c.3816TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407895.1:c.3816TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407896.1:c.3816TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407897.1:c.3816TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407898.1:c.3816TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407899.1:c.3816TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407900.1:c.3819TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407902.1:c.3819TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407904.1:c.3819TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407906.1:c.3819TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407907.1:c.3819TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407908.1:c.3819TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407909.1:c.3819TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407910.1:c.3819TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407915.1:c.3816TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407916.1:c.3816TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407917.1:c.3816TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407918.1:c.3816TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407919.1:c.3906TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407920.1:c.3765TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407921.1:c.3765TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407922.1:c.3765TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407923.1:c.3765TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407924.1:c.3765TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407925.1:c.3765TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407926.1:c.3765TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407927.1:c.3765TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407928.1:c.3765TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407929.1:c.3765TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407930.1:c.3762TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407931.1:c.3762TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407932.1:c.3762TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407933.1:c.3765TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407934.1:c.3762TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407935.1:c.3765TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407936.1:c.3762TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407937.1:c.3906TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407938.1:c.3906TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407939.1:c.3906TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407940.1:c.3903TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407941.1:c.3903TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407942.1:c.3888TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407943.1:c.3885TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407944.1:c.3888TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407945.1:c.3888TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407946.1:c.3696TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407947.1:c.3696TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407948.1:c.3696TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407949.1:c.3696TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407950.1:c.3696TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407951.1:c.3696TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407952.1:c.3696TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407953.1:c.3696TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407954.1:c.3693TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407955.1:c.3693TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407956.1:c.3693TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407957.1:c.3696TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407958.1:c.3693TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407959.1:c.3648TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407960.1:c.3648TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407962.1:c.3645TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407963.1:c.3648TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407964.1:c.3885TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407965.1:c.3525TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407966.1:c.3141TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407967.1:c.3141TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407968.1:c.1425TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407969.1:c.1425TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_007294.4:c.4029TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_007297.4:c.3888TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_007300.4:c.4029TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407970.1:c.788-467_788-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.788-467_788-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.785-467_785-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.788-467_788-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.788-467_788-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.788-467_788-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.788-467_788-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.788-467_788-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.788-467_788-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.788-467_788-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.788-467_788-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.788-467_788-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.788-467_788-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.788-467_788-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.785-467_785-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.785-467_785-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.785-467_785-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.788-467_788-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.785-467_785-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.785-467_785-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.788-467_788-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.785-467_785-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.785-467_785-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.785-467_785-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.785-467_785-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.785-467_785-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.785-467_785-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.785-467_785-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.785-467_785-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.788-467_788-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.788-467_788-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.791-476_791-474del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.785-467_785-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.779-467_779-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.710-467_710-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.647-467_647-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.710-467_710-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.710-467_710-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.707-467_707-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.710-467_710-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.710-467_710-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.707-467_707-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-467_671-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-467_671-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-467_671-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-467_668-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-467_671-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-467_671-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-467_668-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.665-467_665-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.665-467_665-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.665-467_665-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.665-467_665-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.665-467_665-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.665-467_665-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-467_668-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.662-467_662-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.662-467_662-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.662-467_662-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.662-467_662-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.665-467_665-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.665-467_665-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.665-467_665-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.665-467_665-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.665-467_665-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.665-467_665-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.665-467_665-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.665-467_665-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.665-467_665-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.662-467_662-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.662-467_662-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.662-467_662-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.662-467_662-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.662-467_662-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.653-467_653-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.647-467_647-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.647-467_647-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.647-467_647-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.647-467_647-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.647-467_647-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.647-467_647-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.647-467_647-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.647-467_647-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.647-467_647-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.647-467_647-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.644-467_644-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.644-467_644-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.644-467_644-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.644-467_644-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.647-467_647-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.647-467_647-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.644-467_644-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.647-467_647-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.644-467_644-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.788-467_788-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.785-467_785-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.587-467_587-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.584-467_584-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.587-467_587-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.578-467_578-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.578-467_578-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.578-467_578-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.578-467_578-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.578-467_578-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.578-467_578-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.578-467_578-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.578-467_578-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.578-467_578-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.575-467_575-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.575-467_575-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.578-467_578-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.575-467_575-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-467_548-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-467_545-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.524-467_524-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.524-467_524-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.524-467_524-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.524-467_524-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.524-467_524-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.524-467_524-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.455-467_455-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.521-467_521-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.521-467_521-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.521-467_521-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-467_461-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-467_461-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.452-467_452-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.452-467_452-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.407-467_407-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-467_404-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.284-467_284-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.578-467_578-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.578-467_578-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.788-467_788-465del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-467_788-465del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Familial cancer of breast
Synonyms:
Breast cancer, familial; Hereditary breast cancer
Identifiers:
MONDO: MONDO:0016419; MedGen: C0346153; OMIM: 114480

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000679271ClinVar Staff, National Center for Biotechnology Information (NCBI)
no classification provided
not providedgermlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

[Novel BRCA1 gene mutations in breast cancer patients from St. Petersburg].

Tikhomirova OS, Grudinina NA, Golubkov VI, Mandel'shtam MIu, Vasil'ev BV.

Genetika. 2007 Sep;43(9):1263-8. Russian.

PubMed [citation]
PMID:
17990525

Details of each submission

From ClinVar Staff, National Center for Biotechnology Information (NCBI), SCV000679271.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024