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NM_007294.4(BRCA1):c.4029TGA[1] (p.Asp1344del) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Jun 1, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV001191519.14

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001359355Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jun 1, 2023) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

SCV002619754Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Sep 3, 2021) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

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

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 Color Diagnostics, LLC DBA Color Health, SCV001359355.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This variant causes an in-frame deletion of one amino acid at codon 1344 of the BRCA1 protein. This variant is also known as 4163del3 and p.D1343del in the literature. To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual affected with breast cancer (PMID: 17990525). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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

From Ambry Genetics, SCV002619754.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.4032_4034delTGA variant (also known as p.D1344del) is located in coding exon 9 of the BRCA1 gene. This variant results from an in-frame TGA deletion at nucleotide positions 4032 to 4034. This results in the in-frame deletion of an aspartic acid at codon 1344. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Oct 26, 2024