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NM_007294.4(BRCA1):c.4057_4061del (p.Glu1352_Glu1353insTer) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 20, 2020
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002321548.9

Allele description [Variation Report for NM_007294.4(BRCA1):c.4057_4061del (p.Glu1352_Glu1353insTer)]

NM_007294.4(BRCA1):c.4057_4061del (p.Glu1352_Glu1353insTer)

Genes:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
LOC126862571:BRD4-independent group 4 enhancer GRCh37_chr17:41243136-41244335 [Gene]
Variant type:
Deletion
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.4057_4061del (p.Glu1352_Glu1353insTer)
Other names:
4176del5-ter1358
HGVS:
  • NC_000017.11:g.43091472_43091476del
  • NG_005905.2:g.126510_126514del
  • NG_087068.1:g.454_458del
  • NM_001407571.1:c.3844_3848del
  • NM_001407581.1:c.4057_4061del
  • NM_001407582.1:c.4057_4061del
  • NM_001407583.1:c.4057_4061del
  • NM_001407585.1:c.4057_4061del
  • NM_001407587.1:c.4054_4058del
  • NM_001407590.1:c.4054_4058del
  • NM_001407591.1:c.4054_4058del
  • NM_001407593.1:c.4057_4061del
  • NM_001407594.1:c.4057_4061del
  • NM_001407596.1:c.4057_4061del
  • NM_001407597.1:c.4057_4061del
  • NM_001407598.1:c.4057_4061del
  • NM_001407602.1:c.4057_4061del
  • NM_001407603.1:c.4057_4061del
  • NM_001407605.1:c.4057_4061del
  • NM_001407610.1:c.4054_4058del
  • NM_001407611.1:c.4054_4058del
  • NM_001407612.1:c.4054_4058del
  • NM_001407613.1:c.4054_4058del
  • NM_001407614.1:c.4054_4058del
  • NM_001407615.1:c.4054_4058del
  • NM_001407616.1:c.4057_4061del
  • NM_001407617.1:c.4057_4061del
  • NM_001407618.1:c.4057_4061del
  • NM_001407619.1:c.4057_4061del
  • NM_001407620.1:c.4057_4061del
  • NM_001407621.1:c.4057_4061del
  • NM_001407622.1:c.4057_4061del
  • NM_001407623.1:c.4057_4061del
  • NM_001407624.1:c.4057_4061del
  • NM_001407625.1:c.4057_4061del
  • NM_001407626.1:c.4057_4061del
  • NM_001407627.1:c.4054_4058del
  • NM_001407628.1:c.4054_4058del
  • NM_001407629.1:c.4054_4058del
  • NM_001407630.1:c.4054_4058del
  • NM_001407631.1:c.4054_4058del
  • NM_001407632.1:c.4054_4058del
  • NM_001407633.1:c.4054_4058del
  • NM_001407634.1:c.4054_4058del
  • NM_001407635.1:c.4054_4058del
  • NM_001407636.1:c.4054_4058del
  • NM_001407637.1:c.4054_4058del
  • NM_001407638.1:c.4054_4058del
  • NM_001407639.1:c.4057_4061del
  • NM_001407640.1:c.4057_4061del
  • NM_001407641.1:c.4057_4061del
  • NM_001407642.1:c.4057_4061del
  • NM_001407644.1:c.4054_4058del
  • NM_001407645.1:c.4054_4058del
  • NM_001407646.1:c.4048_4052del
  • NM_001407647.1:c.4048_4052del
  • NM_001407648.1:c.3934_3938del
  • NM_001407649.1:c.3931_3935del
  • NM_001407652.1:c.4057_4061del
  • NM_001407653.1:c.3979_3983del
  • NM_001407654.1:c.3979_3983del
  • NM_001407655.1:c.3979_3983del
  • NM_001407656.1:c.3979_3983del
  • NM_001407657.1:c.3979_3983del
  • NM_001407658.1:c.3979_3983del
  • NM_001407659.1:c.3976_3980del
  • NM_001407660.1:c.3976_3980del
  • NM_001407661.1:c.3976_3980del
  • NM_001407662.1:c.3976_3980del
  • NM_001407663.1:c.3979_3983del
  • NM_001407664.1:c.3934_3938del
  • NM_001407665.1:c.3934_3938del
  • NM_001407666.1:c.3934_3938del
  • NM_001407667.1:c.3934_3938del
  • NM_001407668.1:c.3934_3938del
  • NM_001407669.1:c.3934_3938del
  • NM_001407670.1:c.3931_3935del
  • NM_001407671.1:c.3931_3935del
  • NM_001407672.1:c.3931_3935del
  • NM_001407673.1:c.3931_3935del
  • NM_001407674.1:c.3934_3938del
  • NM_001407675.1:c.3934_3938del
  • NM_001407676.1:c.3934_3938del
  • NM_001407677.1:c.3934_3938del
  • NM_001407678.1:c.3934_3938del
  • NM_001407679.1:c.3934_3938del
  • NM_001407680.1:c.3934_3938del
  • NM_001407681.1:c.3934_3938del
  • NM_001407682.1:c.3934_3938del
  • NM_001407683.1:c.3934_3938del
  • NM_001407684.1:c.4057_4061del
  • NM_001407685.1:c.3931_3935del
  • NM_001407686.1:c.3931_3935del
  • NM_001407687.1:c.3931_3935del
  • NM_001407688.1:c.3931_3935del
  • NM_001407689.1:c.3931_3935del
  • NM_001407690.1:c.3931_3935del
  • NM_001407691.1:c.3931_3935del
  • NM_001407692.1:c.3916_3920del
  • NM_001407694.1:c.3916_3920del
  • NM_001407695.1:c.3916_3920del
  • NM_001407696.1:c.3916_3920del
  • NM_001407697.1:c.3916_3920del
  • NM_001407698.1:c.3916_3920del
  • NM_001407724.1:c.3916_3920del
  • NM_001407725.1:c.3916_3920del
  • NM_001407726.1:c.3916_3920del
  • NM_001407727.1:c.3916_3920del
  • NM_001407728.1:c.3916_3920del
  • NM_001407729.1:c.3916_3920del
  • NM_001407730.1:c.3916_3920del
  • NM_001407731.1:c.3916_3920del
  • NM_001407732.1:c.3916_3920del
  • NM_001407733.1:c.3916_3920del
  • NM_001407734.1:c.3916_3920del
  • NM_001407735.1:c.3916_3920del
  • NM_001407736.1:c.3916_3920del
  • NM_001407737.1:c.3916_3920del
  • NM_001407738.1:c.3916_3920del
  • NM_001407739.1:c.3916_3920del
  • NM_001407740.1:c.3913_3917del
  • NM_001407741.1:c.3913_3917del
  • NM_001407742.1:c.3913_3917del
  • NM_001407743.1:c.3913_3917del
  • NM_001407744.1:c.3913_3917del
  • NM_001407745.1:c.3913_3917del
  • NM_001407746.1:c.3913_3917del
  • NM_001407747.1:c.3913_3917del
  • NM_001407748.1:c.3913_3917del
  • NM_001407749.1:c.3913_3917del
  • NM_001407750.1:c.3916_3920del
  • NM_001407751.1:c.3916_3920del
  • NM_001407752.1:c.3916_3920del
  • NM_001407838.1:c.3913_3917del
  • NM_001407839.1:c.3913_3917del
  • NM_001407841.1:c.3913_3917del
  • NM_001407842.1:c.3913_3917del
  • NM_001407843.1:c.3913_3917del
  • NM_001407844.1:c.3913_3917del
  • NM_001407845.1:c.3913_3917del
  • NM_001407846.1:c.3913_3917del
  • NM_001407847.1:c.3913_3917del
  • NM_001407848.1:c.3913_3917del
  • NM_001407849.1:c.3913_3917del
  • NM_001407850.1:c.3916_3920del
  • NM_001407851.1:c.3916_3920del
  • NM_001407852.1:c.3916_3920del
  • NM_001407853.1:c.3844_3848del
  • NM_001407854.1:c.4057_4061del
  • NM_001407858.1:c.4057_4061del
  • NM_001407859.1:c.4057_4061del
  • NM_001407860.1:c.4054_4058del
  • NM_001407861.1:c.4054_4058del
  • NM_001407862.1:c.3856_3860del
  • NM_001407863.1:c.3934_3938del
  • NM_001407874.1:c.3853_3857del
  • NM_001407875.1:c.3853_3857del
  • NM_001407879.1:c.3847_3851del
  • NM_001407881.1:c.3847_3851del
  • NM_001407882.1:c.3847_3851del
  • NM_001407884.1:c.3847_3851del
  • NM_001407885.1:c.3847_3851del
  • NM_001407886.1:c.3847_3851del
  • NM_001407887.1:c.3847_3851del
  • NM_001407889.1:c.3847_3851del
  • NM_001407894.1:c.3844_3848del
  • NM_001407895.1:c.3844_3848del
  • NM_001407896.1:c.3844_3848del
  • NM_001407897.1:c.3844_3848del
  • NM_001407898.1:c.3844_3848del
  • NM_001407899.1:c.3844_3848del
  • NM_001407900.1:c.3847_3851del
  • NM_001407902.1:c.3847_3851del
  • NM_001407904.1:c.3847_3851del
  • NM_001407906.1:c.3847_3851del
  • NM_001407907.1:c.3847_3851del
  • NM_001407908.1:c.3847_3851del
  • NM_001407909.1:c.3847_3851del
  • NM_001407910.1:c.3847_3851del
  • NM_001407915.1:c.3844_3848del
  • NM_001407916.1:c.3844_3848del
  • NM_001407917.1:c.3844_3848del
  • NM_001407918.1:c.3844_3848del
  • NM_001407919.1:c.3934_3938del
  • NM_001407920.1:c.3793_3797del
  • NM_001407921.1:c.3793_3797del
  • NM_001407922.1:c.3793_3797del
  • NM_001407923.1:c.3793_3797del
  • NM_001407924.1:c.3793_3797del
  • NM_001407925.1:c.3793_3797del
  • NM_001407926.1:c.3793_3797del
  • NM_001407927.1:c.3793_3797del
  • NM_001407928.1:c.3793_3797del
  • NM_001407929.1:c.3793_3797del
  • NM_001407930.1:c.3790_3794del
  • NM_001407931.1:c.3790_3794del
  • NM_001407932.1:c.3790_3794del
  • NM_001407933.1:c.3793_3797del
  • NM_001407934.1:c.3790_3794del
  • NM_001407935.1:c.3793_3797del
  • NM_001407936.1:c.3790_3794del
  • NM_001407937.1:c.3934_3938del
  • NM_001407938.1:c.3934_3938del
  • NM_001407939.1:c.3934_3938del
  • NM_001407940.1:c.3931_3935del
  • NM_001407941.1:c.3931_3935del
  • NM_001407942.1:c.3916_3920del
  • NM_001407943.1:c.3913_3917del
  • NM_001407944.1:c.3916_3920del
  • NM_001407945.1:c.3916_3920del
  • NM_001407946.1:c.3724_3728del
  • NM_001407947.1:c.3724_3728del
  • NM_001407948.1:c.3724_3728del
  • NM_001407949.1:c.3724_3728del
  • NM_001407950.1:c.3724_3728del
  • NM_001407951.1:c.3724_3728del
  • NM_001407952.1:c.3724_3728del
  • NM_001407953.1:c.3724_3728del
  • NM_001407954.1:c.3721_3725del
  • NM_001407955.1:c.3721_3725del
  • NM_001407956.1:c.3721_3725del
  • NM_001407957.1:c.3724_3728del
  • NM_001407958.1:c.3721_3725del
  • NM_001407959.1:c.3676_3680del
  • NM_001407960.1:c.3676_3680del
  • NM_001407962.1:c.3673_3677del
  • NM_001407963.1:c.3676_3680del
  • NM_001407964.1:c.3913_3917del
  • NM_001407965.1:c.3553_3557del
  • NM_001407966.1:c.3169_3173del
  • NM_001407967.1:c.3169_3173del
  • NM_001407968.1:c.1453_1457del
  • NM_001407969.1:c.1453_1457del
  • NM_001407970.1:c.788-442_788-438del
  • NM_001407971.1:c.788-442_788-438del
  • NM_001407972.1:c.785-442_785-438del
  • NM_001407973.1:c.788-442_788-438del
  • NM_001407974.1:c.788-442_788-438del
  • NM_001407975.1:c.788-442_788-438del
  • NM_001407976.1:c.788-442_788-438del
  • NM_001407977.1:c.788-442_788-438del
  • NM_001407978.1:c.788-442_788-438del
  • NM_001407979.1:c.788-442_788-438del
  • NM_001407980.1:c.788-442_788-438del
  • NM_001407981.1:c.788-442_788-438del
  • NM_001407982.1:c.788-442_788-438del
  • NM_001407983.1:c.788-442_788-438del
  • NM_001407984.1:c.785-442_785-438del
  • NM_001407985.1:c.785-442_785-438del
  • NM_001407986.1:c.785-442_785-438del
  • NM_001407990.1:c.788-442_788-438del
  • NM_001407991.1:c.785-442_785-438del
  • NM_001407992.1:c.785-442_785-438del
  • NM_001407993.1:c.788-442_788-438del
  • NM_001408392.1:c.785-442_785-438del
  • NM_001408396.1:c.785-442_785-438del
  • NM_001408397.1:c.785-442_785-438del
  • NM_001408398.1:c.785-442_785-438del
  • NM_001408399.1:c.785-442_785-438del
  • NM_001408400.1:c.785-442_785-438del
  • NM_001408401.1:c.785-442_785-438del
  • NM_001408402.1:c.785-442_785-438del
  • NM_001408403.1:c.788-442_788-438del
  • NM_001408404.1:c.788-442_788-438del
  • NM_001408406.1:c.791-451_791-447del
  • NM_001408407.1:c.785-442_785-438del
  • NM_001408408.1:c.779-442_779-438del
  • NM_001408409.1:c.710-442_710-438del
  • NM_001408410.1:c.647-442_647-438del
  • NM_001408411.1:c.710-442_710-438del
  • NM_001408412.1:c.710-442_710-438del
  • NM_001408413.1:c.707-442_707-438del
  • NM_001408414.1:c.710-442_710-438del
  • NM_001408415.1:c.710-442_710-438del
  • NM_001408416.1:c.707-442_707-438del
  • NM_001408418.1:c.671-442_671-438del
  • NM_001408419.1:c.671-442_671-438del
  • NM_001408420.1:c.671-442_671-438del
  • NM_001408421.1:c.668-442_668-438del
  • NM_001408422.1:c.671-442_671-438del
  • NM_001408423.1:c.671-442_671-438del
  • NM_001408424.1:c.668-442_668-438del
  • NM_001408425.1:c.665-442_665-438del
  • NM_001408426.1:c.665-442_665-438del
  • NM_001408427.1:c.665-442_665-438del
  • NM_001408428.1:c.665-442_665-438del
  • NM_001408429.1:c.665-442_665-438del
  • NM_001408430.1:c.665-442_665-438del
  • NM_001408431.1:c.668-442_668-438del
  • NM_001408432.1:c.662-442_662-438del
  • NM_001408433.1:c.662-442_662-438del
  • NM_001408434.1:c.662-442_662-438del
  • NM_001408435.1:c.662-442_662-438del
  • NM_001408436.1:c.665-442_665-438del
  • NM_001408437.1:c.665-442_665-438del
  • NM_001408438.1:c.665-442_665-438del
  • NM_001408439.1:c.665-442_665-438del
  • NM_001408440.1:c.665-442_665-438del
  • NM_001408441.1:c.665-442_665-438del
  • NM_001408442.1:c.665-442_665-438del
  • NM_001408443.1:c.665-442_665-438del
  • NM_001408444.1:c.665-442_665-438del
  • NM_001408445.1:c.662-442_662-438del
  • NM_001408446.1:c.662-442_662-438del
  • NM_001408447.1:c.662-442_662-438del
  • NM_001408448.1:c.662-442_662-438del
  • NM_001408450.1:c.662-442_662-438del
  • NM_001408451.1:c.653-442_653-438del
  • NM_001408452.1:c.647-442_647-438del
  • NM_001408453.1:c.647-442_647-438del
  • NM_001408454.1:c.647-442_647-438del
  • NM_001408455.1:c.647-442_647-438del
  • NM_001408456.1:c.647-442_647-438del
  • NM_001408457.1:c.647-442_647-438del
  • NM_001408458.1:c.647-442_647-438del
  • NM_001408459.1:c.647-442_647-438del
  • NM_001408460.1:c.647-442_647-438del
  • NM_001408461.1:c.647-442_647-438del
  • NM_001408462.1:c.644-442_644-438del
  • NM_001408463.1:c.644-442_644-438del
  • NM_001408464.1:c.644-442_644-438del
  • NM_001408465.1:c.644-442_644-438del
  • NM_001408466.1:c.647-442_647-438del
  • NM_001408467.1:c.647-442_647-438del
  • NM_001408468.1:c.644-442_644-438del
  • NM_001408469.1:c.647-442_647-438del
  • NM_001408470.1:c.644-442_644-438del
  • NM_001408472.1:c.788-442_788-438del
  • NM_001408473.1:c.785-442_785-438del
  • NM_001408474.1:c.587-442_587-438del
  • NM_001408475.1:c.584-442_584-438del
  • NM_001408476.1:c.587-442_587-438del
  • NM_001408478.1:c.578-442_578-438del
  • NM_001408479.1:c.578-442_578-438del
  • NM_001408480.1:c.578-442_578-438del
  • NM_001408481.1:c.578-442_578-438del
  • NM_001408482.1:c.578-442_578-438del
  • NM_001408483.1:c.578-442_578-438del
  • NM_001408484.1:c.578-442_578-438del
  • NM_001408485.1:c.578-442_578-438del
  • NM_001408489.1:c.578-442_578-438del
  • NM_001408490.1:c.575-442_575-438del
  • NM_001408491.1:c.575-442_575-438del
  • NM_001408492.1:c.578-442_578-438del
  • NM_001408493.1:c.575-442_575-438del
  • NM_001408494.1:c.548-442_548-438del
  • NM_001408495.1:c.545-442_545-438del
  • NM_001408496.1:c.524-442_524-438del
  • NM_001408497.1:c.524-442_524-438del
  • NM_001408498.1:c.524-442_524-438del
  • NM_001408499.1:c.524-442_524-438del
  • NM_001408500.1:c.524-442_524-438del
  • NM_001408501.1:c.524-442_524-438del
  • NM_001408502.1:c.455-442_455-438del
  • NM_001408503.1:c.521-442_521-438del
  • NM_001408504.1:c.521-442_521-438del
  • NM_001408505.1:c.521-442_521-438del
  • NM_001408506.1:c.461-442_461-438del
  • NM_001408507.1:c.461-442_461-438del
  • NM_001408508.1:c.452-442_452-438del
  • NM_001408509.1:c.452-442_452-438del
  • NM_001408510.1:c.407-442_407-438del
  • NM_001408511.1:c.404-442_404-438del
  • NM_001408512.1:c.284-442_284-438del
  • NM_001408513.1:c.578-442_578-438del
  • NM_001408514.1:c.578-442_578-438del
  • NM_007294.4:c.4057_4061delMANE SELECT
  • NM_007297.4:c.3916_3920del
  • NM_007298.4:c.788-442_788-438del
  • NM_007299.4:c.788-442_788-438del
  • NM_007300.4:c.4057_4061del
  • NP_001394500.1:p.Glu1281_Glu1282insTer
  • NP_001394510.1:p.Glu1352_Glu1353insTer
  • NP_001394511.1:p.Glu1352_Glu1353insTer
  • NP_001394512.1:p.Glu1352_Glu1353insTer
  • NP_001394514.1:p.Glu1352_Glu1353insTer
  • NP_001394516.1:p.Glu1351_Glu1352insTer
  • NP_001394519.1:p.Glu1351_Glu1352insTer
  • NP_001394520.1:p.Glu1351_Glu1352insTer
  • NP_001394522.1:p.Glu1352_Glu1353insTer
  • NP_001394523.1:p.Glu1352_Glu1353insTer
  • NP_001394525.1:p.Glu1352_Glu1353insTer
  • NP_001394526.1:p.Glu1352_Glu1353insTer
  • NP_001394527.1:p.Glu1352_Glu1353insTer
  • NP_001394531.1:p.Glu1352_Glu1353insTer
  • NP_001394532.1:p.Glu1352_Glu1353insTer
  • NP_001394534.1:p.Glu1352_Glu1353insTer
  • NP_001394539.1:p.Glu1351_Glu1352insTer
  • NP_001394540.1:p.Glu1351_Glu1352insTer
  • NP_001394541.1:p.Glu1351_Glu1352insTer
  • NP_001394542.1:p.Glu1351_Glu1352insTer
  • NP_001394543.1:p.Glu1351_Glu1352insTer
  • NP_001394544.1:p.Glu1351_Glu1352insTer
  • NP_001394545.1:p.Glu1352_Glu1353insTer
  • NP_001394546.1:p.Glu1352_Glu1353insTer
  • NP_001394547.1:p.Glu1352_Glu1353insTer
  • NP_001394548.1:p.Glu1352_Glu1353insTer
  • NP_001394549.1:p.Glu1352_Glu1353insTer
  • NP_001394550.1:p.Glu1352_Glu1353insTer
  • NP_001394551.1:p.Glu1352_Glu1353insTer
  • NP_001394552.1:p.Glu1352_Glu1353insTer
  • NP_001394553.1:p.Glu1352_Glu1353insTer
  • NP_001394554.1:p.Glu1352_Glu1353insTer
  • NP_001394555.1:p.Glu1352_Glu1353insTer
  • NP_001394556.1:p.Glu1351_Glu1352insTer
  • NP_001394557.1:p.Glu1351_Glu1352insTer
  • NP_001394558.1:p.Glu1351_Glu1352insTer
  • NP_001394559.1:p.Glu1351_Glu1352insTer
  • NP_001394560.1:p.Glu1351_Glu1352insTer
  • NP_001394561.1:p.Glu1351_Glu1352insTer
  • NP_001394562.1:p.Glu1351_Glu1352insTer
  • NP_001394563.1:p.Glu1351_Glu1352insTer
  • NP_001394564.1:p.Glu1351_Glu1352insTer
  • NP_001394565.1:p.Glu1351_Glu1352insTer
  • NP_001394566.1:p.Glu1351_Glu1352insTer
  • NP_001394567.1:p.Glu1351_Glu1352insTer
  • NP_001394568.1:p.Glu1352_Glu1353insTer
  • NP_001394569.1:p.Glu1352_Glu1353insTer
  • NP_001394570.1:p.Glu1352_Glu1353insTer
  • NP_001394571.1:p.Glu1352_Glu1353insTer
  • NP_001394573.1:p.Glu1351_Glu1352insTer
  • NP_001394574.1:p.Glu1351_Glu1352insTer
  • NP_001394575.1:p.Glu1349_Glu1350insTer
  • NP_001394576.1:p.Glu1349_Glu1350insTer
  • NP_001394577.1:p.Glu1311_Glu1312insTer
  • NP_001394578.1:p.Glu1310_Glu1311insTer
  • NP_001394581.1:p.Glu1352_Glu1353insTer
  • NP_001394582.1:p.Glu1326_Glu1327insTer
  • NP_001394583.1:p.Glu1326_Glu1327insTer
  • NP_001394584.1:p.Glu1326_Glu1327insTer
  • NP_001394585.1:p.Glu1326_Glu1327insTer
  • NP_001394586.1:p.Glu1326_Glu1327insTer
  • NP_001394587.1:p.Glu1326_Glu1327insTer
  • NP_001394588.1:p.Glu1325_Glu1326insTer
  • NP_001394589.1:p.Glu1325_Glu1326insTer
  • NP_001394590.1:p.Glu1325_Glu1326insTer
  • NP_001394591.1:p.Glu1325_Glu1326insTer
  • NP_001394592.1:p.Glu1326_Glu1327insTer
  • NP_001394593.1:p.Glu1311_Glu1312insTer
  • NP_001394594.1:p.Glu1311_Glu1312insTer
  • NP_001394595.1:p.Glu1311_Glu1312insTer
  • NP_001394596.1:p.Glu1311_Glu1312insTer
  • NP_001394597.1:p.Glu1311_Glu1312insTer
  • NP_001394598.1:p.Glu1311_Glu1312insTer
  • NP_001394599.1:p.Glu1310_Glu1311insTer
  • NP_001394600.1:p.Glu1310_Glu1311insTer
  • NP_001394601.1:p.Glu1310_Glu1311insTer
  • NP_001394602.1:p.Glu1310_Glu1311insTer
  • NP_001394603.1:p.Glu1311_Glu1312insTer
  • NP_001394604.1:p.Glu1311_Glu1312insTer
  • NP_001394605.1:p.Glu1311_Glu1312insTer
  • NP_001394606.1:p.Glu1311_Glu1312insTer
  • NP_001394607.1:p.Glu1311_Glu1312insTer
  • NP_001394608.1:p.Glu1311_Glu1312insTer
  • NP_001394609.1:p.Glu1311_Glu1312insTer
  • NP_001394610.1:p.Glu1311_Glu1312insTer
  • NP_001394611.1:p.Glu1311_Glu1312insTer
  • NP_001394612.1:p.Glu1311_Glu1312insTer
  • NP_001394613.1:p.Glu1352_Glu1353insTer
  • NP_001394614.1:p.Glu1310_Glu1311insTer
  • NP_001394615.1:p.Glu1310_Glu1311insTer
  • NP_001394616.1:p.Glu1310_Glu1311insTer
  • NP_001394617.1:p.Glu1310_Glu1311insTer
  • NP_001394618.1:p.Glu1310_Glu1311insTer
  • NP_001394619.1:p.Glu1310_Glu1311insTer
  • NP_001394620.1:p.Glu1310_Glu1311insTer
  • NP_001394621.1:p.Glu1305_Glu1306insTer
  • NP_001394623.1:p.Glu1305_Glu1306insTer
  • NP_001394624.1:p.Glu1305_Glu1306insTer
  • NP_001394625.1:p.Glu1305_Glu1306insTer
  • NP_001394626.1:p.Glu1305_Glu1306insTer
  • NP_001394627.1:p.Glu1305_Glu1306insTer
  • NP_001394653.1:p.Glu1305_Glu1306insTer
  • NP_001394654.1:p.Glu1305_Glu1306insTer
  • NP_001394655.1:p.Glu1305_Glu1306insTer
  • NP_001394656.1:p.Glu1305_Glu1306insTer
  • NP_001394657.1:p.Glu1305_Glu1306insTer
  • NP_001394658.1:p.Glu1305_Glu1306insTer
  • NP_001394659.1:p.Glu1305_Glu1306insTer
  • NP_001394660.1:p.Glu1305_Glu1306insTer
  • NP_001394661.1:p.Glu1305_Glu1306insTer
  • NP_001394662.1:p.Glu1305_Glu1306insTer
  • NP_001394663.1:p.Glu1305_Glu1306insTer
  • NP_001394664.1:p.Glu1305_Glu1306insTer
  • NP_001394665.1:p.Glu1305_Glu1306insTer
  • NP_001394666.1:p.Glu1305_Glu1306insTer
  • NP_001394667.1:p.Glu1305_Glu1306insTer
  • NP_001394668.1:p.Glu1305_Glu1306insTer
  • NP_001394669.1:p.Glu1304_Glu1305insTer
  • NP_001394670.1:p.Glu1304_Glu1305insTer
  • NP_001394671.1:p.Glu1304_Glu1305insTer
  • NP_001394672.1:p.Glu1304_Glu1305insTer
  • NP_001394673.1:p.Glu1304_Glu1305insTer
  • NP_001394674.1:p.Glu1304_Glu1305insTer
  • NP_001394675.1:p.Glu1304_Glu1305insTer
  • NP_001394676.1:p.Glu1304_Glu1305insTer
  • NP_001394677.1:p.Glu1304_Glu1305insTer
  • NP_001394678.1:p.Glu1304_Glu1305insTer
  • NP_001394679.1:p.Glu1305_Glu1306insTer
  • NP_001394680.1:p.Glu1305_Glu1306insTer
  • NP_001394681.1:p.Glu1305_Glu1306insTer
  • NP_001394767.1:p.Glu1304_Glu1305insTer
  • NP_001394768.1:p.Glu1304_Glu1305insTer
  • NP_001394770.1:p.Glu1304_Glu1305insTer
  • NP_001394771.1:p.Glu1304_Glu1305insTer
  • NP_001394772.1:p.Glu1304_Glu1305insTer
  • NP_001394773.1:p.Glu1304_Glu1305insTer
  • NP_001394774.1:p.Glu1304_Glu1305insTer
  • NP_001394775.1:p.Glu1304_Glu1305insTer
  • NP_001394776.1:p.Glu1304_Glu1305insTer
  • NP_001394777.1:p.Glu1304_Glu1305insTer
  • NP_001394778.1:p.Glu1304_Glu1305insTer
  • NP_001394779.1:p.Glu1305_Glu1306insTer
  • NP_001394780.1:p.Glu1305_Glu1306insTer
  • NP_001394781.1:p.Glu1305_Glu1306insTer
  • NP_001394782.1:p.Glu1281_Glu1282insTer
  • NP_001394783.1:p.Glu1352_Glu1353insTer
  • NP_001394787.1:p.Glu1352_Glu1353insTer
  • NP_001394788.1:p.Glu1352_Glu1353insTer
  • NP_001394789.1:p.Glu1351_Glu1352insTer
  • NP_001394790.1:p.Glu1351_Glu1352insTer
  • NP_001394791.1:p.Glu1285_Glu1286insTer
  • NP_001394792.1:p.Glu1311_Glu1312insTer
  • NP_001394803.1:p.Glu1284_Glu1285insTer
  • NP_001394804.1:p.Glu1284_Glu1285insTer
  • NP_001394808.1:p.Glu1282_Glu1283insTer
  • NP_001394810.1:p.Glu1282_Glu1283insTer
  • NP_001394811.1:p.Glu1282_Glu1283insTer
  • NP_001394813.1:p.Glu1282_Glu1283insTer
  • NP_001394814.1:p.Glu1282_Glu1283insTer
  • NP_001394815.1:p.Glu1282_Glu1283insTer
  • NP_001394816.1:p.Glu1282_Glu1283insTer
  • NP_001394818.1:p.Glu1282_Glu1283insTer
  • NP_001394823.1:p.Glu1281_Glu1282insTer
  • NP_001394824.1:p.Glu1281_Glu1282insTer
  • NP_001394825.1:p.Glu1281_Glu1282insTer
  • NP_001394826.1:p.Glu1281_Glu1282insTer
  • NP_001394827.1:p.Glu1281_Glu1282insTer
  • NP_001394828.1:p.Glu1281_Glu1282insTer
  • NP_001394829.1:p.Glu1282_Glu1283insTer
  • NP_001394831.1:p.Glu1282_Glu1283insTer
  • NP_001394833.1:p.Glu1282_Glu1283insTer
  • NP_001394835.1:p.Glu1282_Glu1283insTer
  • NP_001394836.1:p.Glu1282_Glu1283insTer
  • NP_001394837.1:p.Glu1282_Glu1283insTer
  • NP_001394838.1:p.Glu1282_Glu1283insTer
  • NP_001394839.1:p.Glu1282_Glu1283insTer
  • NP_001394844.1:p.Glu1281_Glu1282insTer
  • NP_001394845.1:p.Glu1281_Glu1282insTer
  • NP_001394846.1:p.Glu1281_Glu1282insTer
  • NP_001394847.1:p.Glu1281_Glu1282insTer
  • NP_001394848.1:p.Glu1311_Glu1312insTer
  • NP_001394849.1:p.Glu1264_Glu1265insTer
  • NP_001394850.1:p.Glu1264_Glu1265insTer
  • NP_001394851.1:p.Glu1264_Glu1265insTer
  • NP_001394852.1:p.Glu1264_Glu1265insTer
  • NP_001394853.1:p.Glu1264_Glu1265insTer
  • NP_001394854.1:p.Glu1264_Glu1265insTer
  • NP_001394855.1:p.Glu1264_Glu1265insTer
  • NP_001394856.1:p.Glu1264_Glu1265insTer
  • NP_001394857.1:p.Glu1264_Glu1265insTer
  • NP_001394858.1:p.Glu1264_Glu1265insTer
  • NP_001394859.1:p.Glu1263_Glu1264insTer
  • NP_001394860.1:p.Glu1263_Glu1264insTer
  • NP_001394861.1:p.Glu1263_Glu1264insTer
  • NP_001394862.1:p.Glu1264_Glu1265insTer
  • NP_001394863.1:p.Glu1263_Glu1264insTer
  • NP_001394864.1:p.Glu1264_Glu1265insTer
  • NP_001394865.1:p.Glu1263_Glu1264insTer
  • NP_001394866.1:p.Glu1311_Glu1312insTer
  • NP_001394867.1:p.Glu1311_Glu1312insTer
  • NP_001394868.1:p.Glu1311_Glu1312insTer
  • NP_001394869.1:p.Glu1310_Glu1311insTer
  • NP_001394870.1:p.Glu1310_Glu1311insTer
  • NP_001394871.1:p.Glu1305_Glu1306insTer
  • NP_001394872.1:p.Glu1304_Glu1305insTer
  • NP_001394873.1:p.Glu1305_Glu1306insTer
  • NP_001394874.1:p.Glu1305_Glu1306insTer
  • NP_001394875.1:p.Glu1241_Glu1242insTer
  • NP_001394876.1:p.Glu1241_Glu1242insTer
  • NP_001394877.1:p.Glu1241_Glu1242insTer
  • NP_001394878.1:p.Glu1241_Glu1242insTer
  • NP_001394879.1:p.Glu1241_Glu1242insTer
  • NP_001394880.1:p.Glu1241_Glu1242insTer
  • NP_001394881.1:p.Glu1241_Glu1242insTer
  • NP_001394882.1:p.Glu1241_Glu1242insTer
  • NP_001394883.1:p.Glu1240_Glu1241insTer
  • NP_001394884.1:p.Glu1240_Glu1241insTer
  • NP_001394885.1:p.Glu1240_Glu1241insTer
  • NP_001394886.1:p.Glu1241_Glu1242insTer
  • NP_001394887.1:p.Glu1240_Glu1241insTer
  • NP_001394888.1:p.Glu1225_Glu1226insTer
  • NP_001394889.1:p.Glu1225_Glu1226insTer
  • NP_001394891.1:p.Glu1224_Glu1225insTer
  • NP_001394892.1:p.Glu1225_Glu1226insTer
  • NP_001394893.1:p.Glu1304_Glu1305insTer
  • NP_001394894.1:p.Glu1184_Glu1185insTer
  • NP_001394895.1:p.Glu1056_Glu1057insTer
  • NP_001394896.1:p.Glu1056_Glu1057insTer
  • NP_001394897.1:p.Glu484_Glu485insTer
  • NP_001394898.1:p.Glu484_Glu485insTer
  • NP_009225.1:p.Glu1352_Glu1353insTer
  • NP_009225.1:p.Glu1353Terfs
  • NP_009228.2:p.Glu1305_Glu1306insTer
  • NP_009231.2:p.Glu1352_Glu1353insTer
  • LRG_292t1:c.4055_4059del
  • LRG_292:g.126510_126514del
  • LRG_292p1:p.Glu1353Terfs
  • NC_000017.10:g.41243487_41243491del
  • NC_000017.10:g.41243489_41243493del
  • NM_007294.3:c.4055_4059delAAGAA
  • NM_007294.3:c.4057_4061delGAAAA
  • NR_027676.1:n.4191_4195delAAGAA
  • p.Glu1353X
Links:
dbSNP: rs397509133
NCBI 1000 Genomes Browser:
rs397509133
Molecular consequence:
  • NM_001407970.1:c.788-442_788-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.788-442_788-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.785-442_785-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.788-442_788-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.788-442_788-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.788-442_788-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.788-442_788-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.788-442_788-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.788-442_788-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.788-442_788-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.788-442_788-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.788-442_788-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.788-442_788-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.788-442_788-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.785-442_785-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.785-442_785-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.785-442_785-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.788-442_788-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.785-442_785-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.785-442_785-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.788-442_788-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.785-442_785-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.785-442_785-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.785-442_785-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.785-442_785-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.785-442_785-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.785-442_785-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.785-442_785-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.785-442_785-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.788-442_788-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.788-442_788-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.791-451_791-447del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.785-442_785-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.779-442_779-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.710-442_710-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.647-442_647-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.710-442_710-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.710-442_710-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.707-442_707-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.710-442_710-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.710-442_710-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.707-442_707-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-442_671-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-442_671-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-442_671-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-442_668-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-442_671-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-442_671-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-442_668-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.665-442_665-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.665-442_665-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.665-442_665-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.665-442_665-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.665-442_665-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.665-442_665-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-442_668-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.662-442_662-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.662-442_662-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.662-442_662-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.662-442_662-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.665-442_665-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.665-442_665-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.665-442_665-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.665-442_665-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.665-442_665-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.665-442_665-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.665-442_665-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.665-442_665-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.665-442_665-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.662-442_662-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.662-442_662-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.662-442_662-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.662-442_662-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.662-442_662-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.653-442_653-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.647-442_647-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.647-442_647-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.647-442_647-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.647-442_647-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.647-442_647-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.647-442_647-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.647-442_647-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.647-442_647-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.647-442_647-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.647-442_647-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.644-442_644-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.644-442_644-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.644-442_644-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.644-442_644-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.647-442_647-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.647-442_647-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.644-442_644-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.647-442_647-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.644-442_644-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.788-442_788-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.785-442_785-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.587-442_587-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.584-442_584-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.587-442_587-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.578-442_578-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.578-442_578-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.578-442_578-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.578-442_578-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.578-442_578-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.578-442_578-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.578-442_578-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.578-442_578-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.578-442_578-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.575-442_575-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.575-442_575-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.578-442_578-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.575-442_575-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-442_548-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-442_545-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.524-442_524-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.524-442_524-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.524-442_524-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.524-442_524-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.524-442_524-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.524-442_524-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.455-442_455-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.521-442_521-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.521-442_521-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.521-442_521-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-442_461-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-442_461-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.452-442_452-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.452-442_452-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.407-442_407-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-442_404-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.284-442_284-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.578-442_578-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.578-442_578-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.788-442_788-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-442_788-438del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.3844_3848del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407581.1:c.4057_4061del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407582.1:c.4057_4061del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407583.1:c.4057_4061del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407585.1:c.4057_4061del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407587.1:c.4054_4058del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407590.1:c.4054_4058del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407591.1:c.4054_4058del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407593.1:c.4057_4061del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407594.1:c.4057_4061del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407596.1:c.4057_4061del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407597.1:c.4057_4061del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407598.1:c.4057_4061del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407602.1:c.4057_4061del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407603.1:c.4057_4061del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407605.1:c.4057_4061del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407610.1:c.4054_4058del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407611.1:c.4054_4058del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407612.1:c.4054_4058del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407613.1:c.4054_4058del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407614.1:c.4054_4058del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407615.1:c.4054_4058del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407616.1:c.4057_4061del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407617.1:c.4057_4061del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407618.1:c.4057_4061del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407619.1:c.4057_4061del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407620.1:c.4057_4061del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407621.1:c.4057_4061del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407622.1:c.4057_4061del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407623.1:c.4057_4061del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407624.1:c.4057_4061del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407625.1:c.4057_4061del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407626.1:c.4057_4061del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407627.1:c.4054_4058del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407628.1:c.4054_4058del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407629.1:c.4054_4058del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407630.1:c.4054_4058del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407631.1:c.4054_4058del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407632.1:c.4054_4058del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407633.1:c.4054_4058del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407634.1:c.4054_4058del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407635.1:c.4054_4058del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407636.1:c.4054_4058del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407637.1:c.4054_4058del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407638.1:c.4054_4058del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407639.1:c.4057_4061del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407640.1:c.4057_4061del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407641.1:c.4057_4061del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407642.1:c.4057_4061del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407644.1:c.4054_4058del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407645.1:c.4054_4058del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407646.1:c.4048_4052del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407647.1:c.4048_4052del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407648.1:c.3934_3938del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407649.1:c.3931_3935del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407652.1:c.4057_4061del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407653.1:c.3979_3983del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407654.1:c.3979_3983del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407655.1:c.3979_3983del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407656.1:c.3979_3983del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407657.1:c.3979_3983del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407658.1:c.3979_3983del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407659.1:c.3976_3980del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407660.1:c.3976_3980del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407661.1:c.3976_3980del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407662.1:c.3976_3980del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407663.1:c.3979_3983del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407664.1:c.3934_3938del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407665.1:c.3934_3938del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407666.1:c.3934_3938del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407667.1:c.3934_3938del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407668.1:c.3934_3938del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407669.1:c.3934_3938del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407670.1:c.3931_3935del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407671.1:c.3931_3935del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407672.1:c.3931_3935del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407673.1:c.3931_3935del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407674.1:c.3934_3938del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407675.1:c.3934_3938del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407676.1:c.3934_3938del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407677.1:c.3934_3938del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407678.1:c.3934_3938del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407679.1:c.3934_3938del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407680.1:c.3934_3938del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407681.1:c.3934_3938del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407682.1:c.3934_3938del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407683.1:c.3934_3938del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407684.1:c.4057_4061del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407685.1:c.3931_3935del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407686.1:c.3931_3935del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407687.1:c.3931_3935del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407688.1:c.3931_3935del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407689.1:c.3931_3935del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407690.1:c.3931_3935del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407691.1:c.3931_3935del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407692.1:c.3916_3920del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407694.1:c.3916_3920del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407695.1:c.3916_3920del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407696.1:c.3916_3920del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407697.1:c.3916_3920del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407698.1:c.3916_3920del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407724.1:c.3916_3920del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407725.1:c.3916_3920del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407726.1:c.3916_3920del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407727.1:c.3916_3920del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407728.1:c.3916_3920del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407729.1:c.3916_3920del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407730.1:c.3916_3920del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407731.1:c.3916_3920del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407732.1:c.3916_3920del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407733.1:c.3916_3920del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407734.1:c.3916_3920del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407735.1:c.3916_3920del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407736.1:c.3916_3920del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407737.1:c.3916_3920del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407738.1:c.3916_3920del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407739.1:c.3916_3920del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407740.1:c.3913_3917del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407741.1:c.3913_3917del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407742.1:c.3913_3917del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407743.1:c.3913_3917del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407744.1:c.3913_3917del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407745.1:c.3913_3917del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407746.1:c.3913_3917del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407747.1:c.3913_3917del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407748.1:c.3913_3917del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407749.1:c.3913_3917del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407750.1:c.3916_3920del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407751.1:c.3916_3920del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407752.1:c.3916_3920del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407838.1:c.3913_3917del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407839.1:c.3913_3917del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407841.1:c.3913_3917del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407842.1:c.3913_3917del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407843.1:c.3913_3917del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407844.1:c.3913_3917del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407845.1:c.3913_3917del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407846.1:c.3913_3917del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407847.1:c.3913_3917del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407848.1:c.3913_3917del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407849.1:c.3913_3917del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407850.1:c.3916_3920del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407851.1:c.3916_3920del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407852.1:c.3916_3920del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407853.1:c.3844_3848del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407854.1:c.4057_4061del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407858.1:c.4057_4061del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407859.1:c.4057_4061del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407860.1:c.4054_4058del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407861.1:c.4054_4058del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407862.1:c.3856_3860del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407863.1:c.3934_3938del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407874.1:c.3853_3857del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407875.1:c.3853_3857del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407879.1:c.3847_3851del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407881.1:c.3847_3851del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407882.1:c.3847_3851del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407884.1:c.3847_3851del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407885.1:c.3847_3851del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407886.1:c.3847_3851del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407887.1:c.3847_3851del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407889.1:c.3847_3851del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407894.1:c.3844_3848del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407895.1:c.3844_3848del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407896.1:c.3844_3848del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407897.1:c.3844_3848del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407898.1:c.3844_3848del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407899.1:c.3844_3848del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407900.1:c.3847_3851del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407902.1:c.3847_3851del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407904.1:c.3847_3851del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407906.1:c.3847_3851del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407907.1:c.3847_3851del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407908.1:c.3847_3851del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407909.1:c.3847_3851del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407910.1:c.3847_3851del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407915.1:c.3844_3848del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407916.1:c.3844_3848del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407917.1:c.3844_3848del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407918.1:c.3844_3848del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407919.1:c.3934_3938del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407920.1:c.3793_3797del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407921.1:c.3793_3797del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407922.1:c.3793_3797del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407923.1:c.3793_3797del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407924.1:c.3793_3797del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407925.1:c.3793_3797del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407926.1:c.3793_3797del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407927.1:c.3793_3797del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407928.1:c.3793_3797del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407929.1:c.3793_3797del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407930.1:c.3790_3794del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407931.1:c.3790_3794del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407932.1:c.3790_3794del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407933.1:c.3793_3797del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407934.1:c.3790_3794del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407935.1:c.3793_3797del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407936.1:c.3790_3794del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407937.1:c.3934_3938del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407938.1:c.3934_3938del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407939.1:c.3934_3938del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407940.1:c.3931_3935del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407941.1:c.3931_3935del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407942.1:c.3916_3920del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407943.1:c.3913_3917del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407944.1:c.3916_3920del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407945.1:c.3916_3920del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407946.1:c.3724_3728del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407947.1:c.3724_3728del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407948.1:c.3724_3728del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407949.1:c.3724_3728del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407950.1:c.3724_3728del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407951.1:c.3724_3728del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407952.1:c.3724_3728del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407953.1:c.3724_3728del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407954.1:c.3721_3725del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407955.1:c.3721_3725del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407956.1:c.3721_3725del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407957.1:c.3724_3728del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407958.1:c.3721_3725del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407959.1:c.3676_3680del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407960.1:c.3676_3680del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407962.1:c.3673_3677del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407963.1:c.3676_3680del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407964.1:c.3913_3917del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407965.1:c.3553_3557del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407966.1:c.3169_3173del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407967.1:c.3169_3173del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407968.1:c.1453_1457del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407969.1:c.1453_1457del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007294.4:c.4057_4061del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007297.4:c.3916_3920del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007300.4:c.4057_4061del - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002631933Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Nov 20, 2020) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Screening of 1331 Danish breast and/or ovarian cancer families identified 40 novel BRCA1 and BRCA2 mutations.

Hansen TV, Jønson L, Steffensen AY, Andersen MK, Kjaergaard S, Gerdes AM, Ejlertsen B, Nielsen FC.

Fam Cancer. 2011 Jun;10(2):207-12. doi: 10.1007/s10689-011-9422-5.

PubMed [citation]
PMID:
21318380

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.

Rebbeck TR, Friebel TM, Friedman E, Hamann U, Huo D, Kwong A, Olah E, Olopade OI, Solano AR, Teo SH, Thomassen M, Weitzel JN, Chan TL, Couch FJ, Goldgar DE, Kruse TA, Palmero EI, Park SK, Torres D, van Rensburg EJ, McGuffog L, Parsons MT, et al.

Hum Mutat. 2018 May;39(5):593-620. doi: 10.1002/humu.23406. Epub 2018 Mar 12.

PubMed [citation]
PMID:
29446198
PMCID:
PMC5903938
See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV002631933.2

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

Description

The c.4057_4061delGAAAA pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of 5 nucleotides at nucleotide positions 4057 to 4061, causing a translational frameshift with a predicted alternate stop codon (p.E1353*). This alteration has been identified in multiple breast and/or ovarian cancer families (Hansen TV et al. Fam Cancer, 2011 Jun;10:207-12; Rebbeck TR et al. Hum Mutat, 2018 05;39:593-620; Ryu JM et al. Breast Cancer Res Treat, 2019 Jan;173:385-395). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Nov 3, 2024