U.S. flag

An official website of the United States government

NM_007294.4(BRCA1):c.3068del (p.Val1023fs) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 28, 2019
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:
RCV000989893.2

Allele description [Variation Report for NM_007294.4(BRCA1):c.3068del (p.Val1023fs)]

NM_007294.4(BRCA1):c.3068del (p.Val1023fs)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.3068del (p.Val1023fs)
HGVS:
  • NC_000017.11:g.43092463del
  • NG_005905.2:g.125521del
  • NM_001407571.1:c.2855del
  • NM_001407581.1:c.3068del
  • NM_001407582.1:c.3068del
  • NM_001407583.1:c.3068del
  • NM_001407585.1:c.3068del
  • NM_001407587.1:c.3065del
  • NM_001407590.1:c.3065del
  • NM_001407591.1:c.3065del
  • NM_001407593.1:c.3068del
  • NM_001407594.1:c.3068del
  • NM_001407596.1:c.3068del
  • NM_001407597.1:c.3068del
  • NM_001407598.1:c.3068del
  • NM_001407602.1:c.3068del
  • NM_001407603.1:c.3068del
  • NM_001407605.1:c.3068del
  • NM_001407610.1:c.3065del
  • NM_001407611.1:c.3065del
  • NM_001407612.1:c.3065del
  • NM_001407613.1:c.3065del
  • NM_001407614.1:c.3065del
  • NM_001407615.1:c.3065del
  • NM_001407616.1:c.3068del
  • NM_001407617.1:c.3068del
  • NM_001407618.1:c.3068del
  • NM_001407619.1:c.3068del
  • NM_001407620.1:c.3068del
  • NM_001407621.1:c.3068del
  • NM_001407622.1:c.3068del
  • NM_001407623.1:c.3068del
  • NM_001407624.1:c.3068del
  • NM_001407625.1:c.3068del
  • NM_001407626.1:c.3068del
  • NM_001407627.1:c.3065del
  • NM_001407628.1:c.3065del
  • NM_001407629.1:c.3065del
  • NM_001407630.1:c.3065del
  • NM_001407631.1:c.3065del
  • NM_001407632.1:c.3065del
  • NM_001407633.1:c.3065del
  • NM_001407634.1:c.3065del
  • NM_001407635.1:c.3065del
  • NM_001407636.1:c.3065del
  • NM_001407637.1:c.3065del
  • NM_001407638.1:c.3065del
  • NM_001407639.1:c.3068del
  • NM_001407640.1:c.3068del
  • NM_001407641.1:c.3068del
  • NM_001407642.1:c.3068del
  • NM_001407644.1:c.3065del
  • NM_001407645.1:c.3065del
  • NM_001407646.1:c.3059del
  • NM_001407647.1:c.3059del
  • NM_001407648.1:c.2945del
  • NM_001407649.1:c.2942del
  • NM_001407652.1:c.3068del
  • NM_001407653.1:c.2990del
  • NM_001407654.1:c.2990del
  • NM_001407655.1:c.2990del
  • NM_001407656.1:c.2990del
  • NM_001407657.1:c.2990del
  • NM_001407658.1:c.2990del
  • NM_001407659.1:c.2987del
  • NM_001407660.1:c.2987del
  • NM_001407661.1:c.2987del
  • NM_001407662.1:c.2987del
  • NM_001407663.1:c.2990del
  • NM_001407664.1:c.2945del
  • NM_001407665.1:c.2945del
  • NM_001407666.1:c.2945del
  • NM_001407667.1:c.2945del
  • NM_001407668.1:c.2945del
  • NM_001407669.1:c.2945del
  • NM_001407670.1:c.2942del
  • NM_001407671.1:c.2942del
  • NM_001407672.1:c.2942del
  • NM_001407673.1:c.2942del
  • NM_001407674.1:c.2945del
  • NM_001407675.1:c.2945del
  • NM_001407676.1:c.2945del
  • NM_001407677.1:c.2945del
  • NM_001407678.1:c.2945del
  • NM_001407679.1:c.2945del
  • NM_001407680.1:c.2945del
  • NM_001407681.1:c.2945del
  • NM_001407682.1:c.2945del
  • NM_001407683.1:c.2945del
  • NM_001407684.1:c.3068del
  • NM_001407685.1:c.2942del
  • NM_001407686.1:c.2942del
  • NM_001407687.1:c.2942del
  • NM_001407688.1:c.2942del
  • NM_001407689.1:c.2942del
  • NM_001407690.1:c.2942del
  • NM_001407691.1:c.2942del
  • NM_001407692.1:c.2927del
  • NM_001407694.1:c.2927del
  • NM_001407695.1:c.2927del
  • NM_001407696.1:c.2927del
  • NM_001407697.1:c.2927del
  • NM_001407698.1:c.2927del
  • NM_001407724.1:c.2927del
  • NM_001407725.1:c.2927del
  • NM_001407726.1:c.2927del
  • NM_001407727.1:c.2927del
  • NM_001407728.1:c.2927del
  • NM_001407729.1:c.2927del
  • NM_001407730.1:c.2927del
  • NM_001407731.1:c.2927del
  • NM_001407732.1:c.2927del
  • NM_001407733.1:c.2927del
  • NM_001407734.1:c.2927del
  • NM_001407735.1:c.2927del
  • NM_001407736.1:c.2927del
  • NM_001407737.1:c.2927del
  • NM_001407738.1:c.2927del
  • NM_001407739.1:c.2927del
  • NM_001407740.1:c.2924del
  • NM_001407741.1:c.2924del
  • NM_001407742.1:c.2924del
  • NM_001407743.1:c.2924del
  • NM_001407744.1:c.2924del
  • NM_001407745.1:c.2924del
  • NM_001407746.1:c.2924del
  • NM_001407747.1:c.2924del
  • NM_001407748.1:c.2924del
  • NM_001407749.1:c.2924del
  • NM_001407750.1:c.2927del
  • NM_001407751.1:c.2927del
  • NM_001407752.1:c.2927del
  • NM_001407838.1:c.2924del
  • NM_001407839.1:c.2924del
  • NM_001407841.1:c.2924del
  • NM_001407842.1:c.2924del
  • NM_001407843.1:c.2924del
  • NM_001407844.1:c.2924del
  • NM_001407845.1:c.2924del
  • NM_001407846.1:c.2924del
  • NM_001407847.1:c.2924del
  • NM_001407848.1:c.2924del
  • NM_001407849.1:c.2924del
  • NM_001407850.1:c.2927del
  • NM_001407851.1:c.2927del
  • NM_001407852.1:c.2927del
  • NM_001407853.1:c.2855del
  • NM_001407854.1:c.3068del
  • NM_001407858.1:c.3068del
  • NM_001407859.1:c.3068del
  • NM_001407860.1:c.3065del
  • NM_001407861.1:c.3065del
  • NM_001407862.1:c.2867del
  • NM_001407863.1:c.2945del
  • NM_001407874.1:c.2864del
  • NM_001407875.1:c.2864del
  • NM_001407879.1:c.2858del
  • NM_001407881.1:c.2858del
  • NM_001407882.1:c.2858del
  • NM_001407884.1:c.2858del
  • NM_001407885.1:c.2858del
  • NM_001407886.1:c.2858del
  • NM_001407887.1:c.2858del
  • NM_001407889.1:c.2858del
  • NM_001407894.1:c.2855del
  • NM_001407895.1:c.2855del
  • NM_001407896.1:c.2855del
  • NM_001407897.1:c.2855del
  • NM_001407898.1:c.2855del
  • NM_001407899.1:c.2855del
  • NM_001407900.1:c.2858del
  • NM_001407902.1:c.2858del
  • NM_001407904.1:c.2858del
  • NM_001407906.1:c.2858del
  • NM_001407907.1:c.2858del
  • NM_001407908.1:c.2858del
  • NM_001407909.1:c.2858del
  • NM_001407910.1:c.2858del
  • NM_001407915.1:c.2855del
  • NM_001407916.1:c.2855del
  • NM_001407917.1:c.2855del
  • NM_001407918.1:c.2855del
  • NM_001407919.1:c.2945del
  • NM_001407920.1:c.2804del
  • NM_001407921.1:c.2804del
  • NM_001407922.1:c.2804del
  • NM_001407923.1:c.2804del
  • NM_001407924.1:c.2804del
  • NM_001407925.1:c.2804del
  • NM_001407926.1:c.2804del
  • NM_001407927.1:c.2804del
  • NM_001407928.1:c.2804del
  • NM_001407929.1:c.2804del
  • NM_001407930.1:c.2801del
  • NM_001407931.1:c.2801del
  • NM_001407932.1:c.2801del
  • NM_001407933.1:c.2804del
  • NM_001407934.1:c.2801del
  • NM_001407935.1:c.2804del
  • NM_001407936.1:c.2801del
  • NM_001407937.1:c.2945del
  • NM_001407938.1:c.2945del
  • NM_001407939.1:c.2945del
  • NM_001407940.1:c.2942del
  • NM_001407941.1:c.2942del
  • NM_001407942.1:c.2927del
  • NM_001407943.1:c.2924del
  • NM_001407944.1:c.2927del
  • NM_001407945.1:c.2927del
  • NM_001407946.1:c.2735del
  • NM_001407947.1:c.2735del
  • NM_001407948.1:c.2735del
  • NM_001407949.1:c.2735del
  • NM_001407950.1:c.2735del
  • NM_001407951.1:c.2735del
  • NM_001407952.1:c.2735del
  • NM_001407953.1:c.2735del
  • NM_001407954.1:c.2732del
  • NM_001407955.1:c.2732del
  • NM_001407956.1:c.2732del
  • NM_001407957.1:c.2735del
  • NM_001407958.1:c.2732del
  • NM_001407959.1:c.2687del
  • NM_001407960.1:c.2687del
  • NM_001407962.1:c.2684del
  • NM_001407963.1:c.2687del
  • NM_001407964.1:c.2924del
  • NM_001407965.1:c.2564del
  • NM_001407966.1:c.2180del
  • NM_001407967.1:c.2180del
  • NM_001407968.1:c.788-324del
  • NM_001407969.1:c.788-324del
  • NM_001407970.1:c.788-1431del
  • NM_001407971.1:c.788-1431del
  • NM_001407972.1:c.785-1431del
  • NM_001407973.1:c.788-1431del
  • NM_001407974.1:c.788-1431del
  • NM_001407975.1:c.788-1431del
  • NM_001407976.1:c.788-1431del
  • NM_001407977.1:c.788-1431del
  • NM_001407978.1:c.788-1431del
  • NM_001407979.1:c.788-1431del
  • NM_001407980.1:c.788-1431del
  • NM_001407981.1:c.788-1431del
  • NM_001407982.1:c.788-1431del
  • NM_001407983.1:c.788-1431del
  • NM_001407984.1:c.785-1431del
  • NM_001407985.1:c.785-1431del
  • NM_001407986.1:c.785-1431del
  • NM_001407990.1:c.788-1431del
  • NM_001407991.1:c.785-1431del
  • NM_001407992.1:c.785-1431del
  • NM_001407993.1:c.788-1431del
  • NM_001408392.1:c.785-1431del
  • NM_001408396.1:c.785-1431del
  • NM_001408397.1:c.785-1431del
  • NM_001408398.1:c.785-1431del
  • NM_001408399.1:c.785-1431del
  • NM_001408400.1:c.785-1431del
  • NM_001408401.1:c.785-1431del
  • NM_001408402.1:c.785-1431del
  • NM_001408403.1:c.788-1431del
  • NM_001408404.1:c.788-1431del
  • NM_001408406.1:c.791-1440del
  • NM_001408407.1:c.785-1431del
  • NM_001408408.1:c.779-1431del
  • NM_001408409.1:c.710-1431del
  • NM_001408410.1:c.647-1431del
  • NM_001408411.1:c.710-1431del
  • NM_001408412.1:c.710-1431del
  • NM_001408413.1:c.707-1431del
  • NM_001408414.1:c.710-1431del
  • NM_001408415.1:c.710-1431del
  • NM_001408416.1:c.707-1431del
  • NM_001408418.1:c.671-1431del
  • NM_001408419.1:c.671-1431del
  • NM_001408420.1:c.671-1431del
  • NM_001408421.1:c.668-1431del
  • NM_001408422.1:c.671-1431del
  • NM_001408423.1:c.671-1431del
  • NM_001408424.1:c.668-1431del
  • NM_001408425.1:c.665-1431del
  • NM_001408426.1:c.665-1431del
  • NM_001408427.1:c.665-1431del
  • NM_001408428.1:c.665-1431del
  • NM_001408429.1:c.665-1431del
  • NM_001408430.1:c.665-1431del
  • NM_001408431.1:c.668-1431del
  • NM_001408432.1:c.662-1431del
  • NM_001408433.1:c.662-1431del
  • NM_001408434.1:c.662-1431del
  • NM_001408435.1:c.662-1431del
  • NM_001408436.1:c.665-1431del
  • NM_001408437.1:c.665-1431del
  • NM_001408438.1:c.665-1431del
  • NM_001408439.1:c.665-1431del
  • NM_001408440.1:c.665-1431del
  • NM_001408441.1:c.665-1431del
  • NM_001408442.1:c.665-1431del
  • NM_001408443.1:c.665-1431del
  • NM_001408444.1:c.665-1431del
  • NM_001408445.1:c.662-1431del
  • NM_001408446.1:c.662-1431del
  • NM_001408447.1:c.662-1431del
  • NM_001408448.1:c.662-1431del
  • NM_001408450.1:c.662-1431del
  • NM_001408451.1:c.653-1431del
  • NM_001408452.1:c.647-1431del
  • NM_001408453.1:c.647-1431del
  • NM_001408454.1:c.647-1431del
  • NM_001408455.1:c.647-1431del
  • NM_001408456.1:c.647-1431del
  • NM_001408457.1:c.647-1431del
  • NM_001408458.1:c.647-1431del
  • NM_001408459.1:c.647-1431del
  • NM_001408460.1:c.647-1431del
  • NM_001408461.1:c.647-1431del
  • NM_001408462.1:c.644-1431del
  • NM_001408463.1:c.644-1431del
  • NM_001408464.1:c.644-1431del
  • NM_001408465.1:c.644-1431del
  • NM_001408466.1:c.647-1431del
  • NM_001408467.1:c.647-1431del
  • NM_001408468.1:c.644-1431del
  • NM_001408469.1:c.647-1431del
  • NM_001408470.1:c.644-1431del
  • NM_001408472.1:c.788-1431del
  • NM_001408473.1:c.785-1431del
  • NM_001408474.1:c.587-1431del
  • NM_001408475.1:c.584-1431del
  • NM_001408476.1:c.587-1431del
  • NM_001408478.1:c.578-1431del
  • NM_001408479.1:c.578-1431del
  • NM_001408480.1:c.578-1431del
  • NM_001408481.1:c.578-1431del
  • NM_001408482.1:c.578-1431del
  • NM_001408483.1:c.578-1431del
  • NM_001408484.1:c.578-1431del
  • NM_001408485.1:c.578-1431del
  • NM_001408489.1:c.578-1431del
  • NM_001408490.1:c.575-1431del
  • NM_001408491.1:c.575-1431del
  • NM_001408492.1:c.578-1431del
  • NM_001408493.1:c.575-1431del
  • NM_001408494.1:c.548-1431del
  • NM_001408495.1:c.545-1431del
  • NM_001408496.1:c.524-1431del
  • NM_001408497.1:c.524-1431del
  • NM_001408498.1:c.524-1431del
  • NM_001408499.1:c.524-1431del
  • NM_001408500.1:c.524-1431del
  • NM_001408501.1:c.524-1431del
  • NM_001408502.1:c.455-1431del
  • NM_001408503.1:c.521-1431del
  • NM_001408504.1:c.521-1431del
  • NM_001408505.1:c.521-1431del
  • NM_001408506.1:c.461-1431del
  • NM_001408507.1:c.461-1431del
  • NM_001408508.1:c.452-1431del
  • NM_001408509.1:c.452-1431del
  • NM_001408510.1:c.407-1431del
  • NM_001408511.1:c.404-1431del
  • NM_001408512.1:c.284-1431del
  • NM_001408513.1:c.578-1431del
  • NM_001408514.1:c.578-1431del
  • NM_007294.4:c.3068delMANE SELECT
  • NM_007297.4:c.2927del
  • NM_007298.4:c.788-1431del
  • NM_007299.4:c.788-1431del
  • NM_007300.4:c.3068del
  • NP_001394500.1:p.Val952fs
  • NP_001394510.1:p.Val1023fs
  • NP_001394511.1:p.Val1023fs
  • NP_001394512.1:p.Val1023fs
  • NP_001394514.1:p.Val1023fs
  • NP_001394516.1:p.Val1022fs
  • NP_001394519.1:p.Val1022fs
  • NP_001394520.1:p.Val1022fs
  • NP_001394522.1:p.Val1023fs
  • NP_001394523.1:p.Val1023fs
  • NP_001394525.1:p.Val1023fs
  • NP_001394526.1:p.Val1023fs
  • NP_001394527.1:p.Val1023fs
  • NP_001394531.1:p.Val1023fs
  • NP_001394532.1:p.Val1023fs
  • NP_001394534.1:p.Val1023fs
  • NP_001394539.1:p.Val1022fs
  • NP_001394540.1:p.Val1022fs
  • NP_001394541.1:p.Val1022fs
  • NP_001394542.1:p.Val1022fs
  • NP_001394543.1:p.Val1022fs
  • NP_001394544.1:p.Val1022fs
  • NP_001394545.1:p.Val1023fs
  • NP_001394546.1:p.Val1023fs
  • NP_001394547.1:p.Val1023fs
  • NP_001394548.1:p.Val1023fs
  • NP_001394549.1:p.Val1023fs
  • NP_001394550.1:p.Val1023fs
  • NP_001394551.1:p.Val1023fs
  • NP_001394552.1:p.Val1023fs
  • NP_001394553.1:p.Val1023fs
  • NP_001394554.1:p.Val1023fs
  • NP_001394555.1:p.Val1023fs
  • NP_001394556.1:p.Val1022fs
  • NP_001394557.1:p.Val1022fs
  • NP_001394558.1:p.Val1022fs
  • NP_001394559.1:p.Val1022fs
  • NP_001394560.1:p.Val1022fs
  • NP_001394561.1:p.Val1022fs
  • NP_001394562.1:p.Val1022fs
  • NP_001394563.1:p.Val1022fs
  • NP_001394564.1:p.Val1022fs
  • NP_001394565.1:p.Val1022fs
  • NP_001394566.1:p.Val1022fs
  • NP_001394567.1:p.Val1022fs
  • NP_001394568.1:p.Val1023fs
  • NP_001394569.1:p.Val1023fs
  • NP_001394570.1:p.Val1023fs
  • NP_001394571.1:p.Val1023fs
  • NP_001394573.1:p.Val1022fs
  • NP_001394574.1:p.Val1022fs
  • NP_001394575.1:p.Val1020fs
  • NP_001394576.1:p.Val1020fs
  • NP_001394577.1:p.Val982fs
  • NP_001394578.1:p.Val981fs
  • NP_001394581.1:p.Val1023fs
  • NP_001394582.1:p.Val997fs
  • NP_001394583.1:p.Val997fs
  • NP_001394584.1:p.Val997fs
  • NP_001394585.1:p.Val997fs
  • NP_001394586.1:p.Val997fs
  • NP_001394587.1:p.Val997fs
  • NP_001394588.1:p.Val996fs
  • NP_001394589.1:p.Val996fs
  • NP_001394590.1:p.Val996fs
  • NP_001394591.1:p.Val996fs
  • NP_001394592.1:p.Val997fs
  • NP_001394593.1:p.Val982fs
  • NP_001394594.1:p.Val982fs
  • NP_001394595.1:p.Val982fs
  • NP_001394596.1:p.Val982fs
  • NP_001394597.1:p.Val982fs
  • NP_001394598.1:p.Val982fs
  • NP_001394599.1:p.Val981fs
  • NP_001394600.1:p.Val981fs
  • NP_001394601.1:p.Val981fs
  • NP_001394602.1:p.Val981fs
  • NP_001394603.1:p.Val982fs
  • NP_001394604.1:p.Val982fs
  • NP_001394605.1:p.Val982fs
  • NP_001394606.1:p.Val982fs
  • NP_001394607.1:p.Val982fs
  • NP_001394608.1:p.Val982fs
  • NP_001394609.1:p.Val982fs
  • NP_001394610.1:p.Val982fs
  • NP_001394611.1:p.Val982fs
  • NP_001394612.1:p.Val982fs
  • NP_001394613.1:p.Val1023fs
  • NP_001394614.1:p.Val981fs
  • NP_001394615.1:p.Val981fs
  • NP_001394616.1:p.Val981fs
  • NP_001394617.1:p.Val981fs
  • NP_001394618.1:p.Val981fs
  • NP_001394619.1:p.Val981fs
  • NP_001394620.1:p.Val981fs
  • NP_001394621.1:p.Val976fs
  • NP_001394623.1:p.Val976fs
  • NP_001394624.1:p.Val976fs
  • NP_001394625.1:p.Val976fs
  • NP_001394626.1:p.Val976fs
  • NP_001394627.1:p.Val976fs
  • NP_001394653.1:p.Val976fs
  • NP_001394654.1:p.Val976fs
  • NP_001394655.1:p.Val976fs
  • NP_001394656.1:p.Val976fs
  • NP_001394657.1:p.Val976fs
  • NP_001394658.1:p.Val976fs
  • NP_001394659.1:p.Val976fs
  • NP_001394660.1:p.Val976fs
  • NP_001394661.1:p.Val976fs
  • NP_001394662.1:p.Val976fs
  • NP_001394663.1:p.Val976fs
  • NP_001394664.1:p.Val976fs
  • NP_001394665.1:p.Val976fs
  • NP_001394666.1:p.Val976fs
  • NP_001394667.1:p.Val976fs
  • NP_001394668.1:p.Val976fs
  • NP_001394669.1:p.Val975fs
  • NP_001394670.1:p.Val975fs
  • NP_001394671.1:p.Val975fs
  • NP_001394672.1:p.Val975fs
  • NP_001394673.1:p.Val975fs
  • NP_001394674.1:p.Val975fs
  • NP_001394675.1:p.Val975fs
  • NP_001394676.1:p.Val975fs
  • NP_001394677.1:p.Val975fs
  • NP_001394678.1:p.Val975fs
  • NP_001394679.1:p.Val976fs
  • NP_001394680.1:p.Val976fs
  • NP_001394681.1:p.Val976fs
  • NP_001394767.1:p.Val975fs
  • NP_001394768.1:p.Val975fs
  • NP_001394770.1:p.Val975fs
  • NP_001394771.1:p.Val975fs
  • NP_001394772.1:p.Val975fs
  • NP_001394773.1:p.Val975fs
  • NP_001394774.1:p.Val975fs
  • NP_001394775.1:p.Val975fs
  • NP_001394776.1:p.Val975fs
  • NP_001394777.1:p.Val975fs
  • NP_001394778.1:p.Val975fs
  • NP_001394779.1:p.Val976fs
  • NP_001394780.1:p.Val976fs
  • NP_001394781.1:p.Val976fs
  • NP_001394782.1:p.Val952fs
  • NP_001394783.1:p.Val1023fs
  • NP_001394787.1:p.Val1023fs
  • NP_001394788.1:p.Val1023fs
  • NP_001394789.1:p.Val1022fs
  • NP_001394790.1:p.Val1022fs
  • NP_001394791.1:p.Val956fs
  • NP_001394792.1:p.Val982fs
  • NP_001394803.1:p.Val955fs
  • NP_001394804.1:p.Val955fs
  • NP_001394808.1:p.Val953fs
  • NP_001394810.1:p.Val953fs
  • NP_001394811.1:p.Val953fs
  • NP_001394813.1:p.Val953fs
  • NP_001394814.1:p.Val953fs
  • NP_001394815.1:p.Val953fs
  • NP_001394816.1:p.Val953fs
  • NP_001394818.1:p.Val953fs
  • NP_001394823.1:p.Val952fs
  • NP_001394824.1:p.Val952fs
  • NP_001394825.1:p.Val952fs
  • NP_001394826.1:p.Val952fs
  • NP_001394827.1:p.Val952fs
  • NP_001394828.1:p.Val952fs
  • NP_001394829.1:p.Val953fs
  • NP_001394831.1:p.Val953fs
  • NP_001394833.1:p.Val953fs
  • NP_001394835.1:p.Val953fs
  • NP_001394836.1:p.Val953fs
  • NP_001394837.1:p.Val953fs
  • NP_001394838.1:p.Val953fs
  • NP_001394839.1:p.Val953fs
  • NP_001394844.1:p.Val952fs
  • NP_001394845.1:p.Val952fs
  • NP_001394846.1:p.Val952fs
  • NP_001394847.1:p.Val952fs
  • NP_001394848.1:p.Val982fs
  • NP_001394849.1:p.Val935fs
  • NP_001394850.1:p.Val935fs
  • NP_001394851.1:p.Val935fs
  • NP_001394852.1:p.Val935fs
  • NP_001394853.1:p.Val935fs
  • NP_001394854.1:p.Val935fs
  • NP_001394855.1:p.Val935fs
  • NP_001394856.1:p.Val935fs
  • NP_001394857.1:p.Val935fs
  • NP_001394858.1:p.Val935fs
  • NP_001394859.1:p.Val934fs
  • NP_001394860.1:p.Val934fs
  • NP_001394861.1:p.Val934fs
  • NP_001394862.1:p.Val935fs
  • NP_001394863.1:p.Val934fs
  • NP_001394864.1:p.Val935fs
  • NP_001394865.1:p.Val934fs
  • NP_001394866.1:p.Val982fs
  • NP_001394867.1:p.Val982fs
  • NP_001394868.1:p.Val982fs
  • NP_001394869.1:p.Val981fs
  • NP_001394870.1:p.Val981fs
  • NP_001394871.1:p.Val976fs
  • NP_001394872.1:p.Val975fs
  • NP_001394873.1:p.Val976fs
  • NP_001394874.1:p.Val976fs
  • NP_001394875.1:p.Val912fs
  • NP_001394876.1:p.Val912fs
  • NP_001394877.1:p.Val912fs
  • NP_001394878.1:p.Val912fs
  • NP_001394879.1:p.Val912fs
  • NP_001394880.1:p.Val912fs
  • NP_001394881.1:p.Val912fs
  • NP_001394882.1:p.Val912fs
  • NP_001394883.1:p.Val911fs
  • NP_001394884.1:p.Val911fs
  • NP_001394885.1:p.Val911fs
  • NP_001394886.1:p.Val912fs
  • NP_001394887.1:p.Val911fs
  • NP_001394888.1:p.Val896fs
  • NP_001394889.1:p.Val896fs
  • NP_001394891.1:p.Val895fs
  • NP_001394892.1:p.Val896fs
  • NP_001394893.1:p.Val975fs
  • NP_001394894.1:p.Val855fs
  • NP_001394895.1:p.Val727fs
  • NP_001394896.1:p.Val727fs
  • NP_009225.1:p.Val1023Glyfs
  • NP_009225.1:p.Val1023fs
  • NP_009228.2:p.Val976fs
  • NP_009231.2:p.Val1023fs
  • LRG_292t1:c.3068del
  • LRG_292:g.125521del
  • LRG_292p1:p.Val1023Glyfs
  • NC_000017.10:g.41244480del
  • NC_000017.10:g.41244480delA
  • NM_007294.3:c.3068delT
  • NR_027676.1:n.3204delT
Protein change:
V1020fs
Links:
dbSNP: rs1567793053
NCBI 1000 Genomes Browser:
rs1567793053
Molecular consequence:
  • NM_001407571.1:c.2855del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407581.1:c.3068del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407582.1:c.3068del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407583.1:c.3068del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407585.1:c.3068del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407587.1:c.3065del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407590.1:c.3065del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407591.1:c.3065del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407593.1:c.3068del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407594.1:c.3068del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407596.1:c.3068del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407597.1:c.3068del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407598.1:c.3068del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407602.1:c.3068del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407603.1:c.3068del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407605.1:c.3068del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407610.1:c.3065del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407611.1:c.3065del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407612.1:c.3065del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407613.1:c.3065del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407614.1:c.3065del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407615.1:c.3065del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407616.1:c.3068del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407617.1:c.3068del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407618.1:c.3068del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407619.1:c.3068del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407620.1:c.3068del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407621.1:c.3068del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407622.1:c.3068del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407623.1:c.3068del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407624.1:c.3068del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407625.1:c.3068del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407626.1:c.3068del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407627.1:c.3065del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407628.1:c.3065del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407629.1:c.3065del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407630.1:c.3065del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407631.1:c.3065del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407632.1:c.3065del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407633.1:c.3065del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407634.1:c.3065del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407635.1:c.3065del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407636.1:c.3065del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407637.1:c.3065del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407638.1:c.3065del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407639.1:c.3068del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407640.1:c.3068del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407641.1:c.3068del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407642.1:c.3068del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407644.1:c.3065del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407645.1:c.3065del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407646.1:c.3059del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407647.1:c.3059del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407648.1:c.2945del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407649.1:c.2942del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407652.1:c.3068del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407653.1:c.2990del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407654.1:c.2990del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407655.1:c.2990del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407656.1:c.2990del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407657.1:c.2990del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407658.1:c.2990del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407659.1:c.2987del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407660.1:c.2987del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407661.1:c.2987del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407662.1:c.2987del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407663.1:c.2990del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407664.1:c.2945del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407665.1:c.2945del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407666.1:c.2945del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407667.1:c.2945del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407668.1:c.2945del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407669.1:c.2945del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407670.1:c.2942del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407671.1:c.2942del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407672.1:c.2942del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407673.1:c.2942del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407674.1:c.2945del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407675.1:c.2945del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407676.1:c.2945del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407677.1:c.2945del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407678.1:c.2945del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407679.1:c.2945del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407680.1:c.2945del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407681.1:c.2945del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407682.1:c.2945del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407683.1:c.2945del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407684.1:c.3068del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407685.1:c.2942del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407686.1:c.2942del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407687.1:c.2942del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407688.1:c.2942del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407689.1:c.2942del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407690.1:c.2942del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407691.1:c.2942del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407692.1:c.2927del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407694.1:c.2927del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407695.1:c.2927del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407696.1:c.2927del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407697.1:c.2927del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407698.1:c.2927del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407724.1:c.2927del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407725.1:c.2927del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407726.1:c.2927del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407727.1:c.2927del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407728.1:c.2927del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407729.1:c.2927del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407730.1:c.2927del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407731.1:c.2927del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407732.1:c.2927del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407733.1:c.2927del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407734.1:c.2927del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407735.1:c.2927del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407736.1:c.2927del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407737.1:c.2927del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407738.1:c.2927del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407739.1:c.2927del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407740.1:c.2924del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407741.1:c.2924del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407742.1:c.2924del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407743.1:c.2924del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407744.1:c.2924del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407745.1:c.2924del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407746.1:c.2924del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407747.1:c.2924del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407748.1:c.2924del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407749.1:c.2924del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407750.1:c.2927del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407751.1:c.2927del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407752.1:c.2927del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407838.1:c.2924del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407839.1:c.2924del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407841.1:c.2924del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407842.1:c.2924del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407843.1:c.2924del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407844.1:c.2924del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407845.1:c.2924del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407846.1:c.2924del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407847.1:c.2924del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407848.1:c.2924del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407849.1:c.2924del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407850.1:c.2927del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407851.1:c.2927del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407852.1:c.2927del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407853.1:c.2855del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407854.1:c.3068del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407858.1:c.3068del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407859.1:c.3068del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407860.1:c.3065del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407861.1:c.3065del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407862.1:c.2867del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407863.1:c.2945del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407874.1:c.2864del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407875.1:c.2864del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407879.1:c.2858del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407881.1:c.2858del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407882.1:c.2858del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407884.1:c.2858del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407885.1:c.2858del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407886.1:c.2858del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407887.1:c.2858del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407889.1:c.2858del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407894.1:c.2855del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407895.1:c.2855del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407896.1:c.2855del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407897.1:c.2855del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407898.1:c.2855del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407899.1:c.2855del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407900.1:c.2858del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407902.1:c.2858del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407904.1:c.2858del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407906.1:c.2858del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407907.1:c.2858del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407908.1:c.2858del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407909.1:c.2858del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407910.1:c.2858del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407915.1:c.2855del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407916.1:c.2855del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407917.1:c.2855del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407918.1:c.2855del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407919.1:c.2945del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407920.1:c.2804del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407921.1:c.2804del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407922.1:c.2804del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407923.1:c.2804del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407924.1:c.2804del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407925.1:c.2804del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407926.1:c.2804del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407927.1:c.2804del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407928.1:c.2804del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407929.1:c.2804del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407930.1:c.2801del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407931.1:c.2801del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407932.1:c.2801del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407933.1:c.2804del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407934.1:c.2801del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407935.1:c.2804del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407936.1:c.2801del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407937.1:c.2945del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407938.1:c.2945del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407939.1:c.2945del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407940.1:c.2942del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407941.1:c.2942del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407942.1:c.2927del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407943.1:c.2924del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407944.1:c.2927del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407945.1:c.2927del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407946.1:c.2735del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407947.1:c.2735del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407948.1:c.2735del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407949.1:c.2735del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407950.1:c.2735del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407951.1:c.2735del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407952.1:c.2735del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407953.1:c.2735del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407954.1:c.2732del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407955.1:c.2732del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407956.1:c.2732del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407957.1:c.2735del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407958.1:c.2732del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407959.1:c.2687del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407960.1:c.2687del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407962.1:c.2684del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407963.1:c.2687del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407964.1:c.2924del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407965.1:c.2564del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407966.1:c.2180del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407967.1:c.2180del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007294.4:c.3068del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007297.4:c.2927del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007300.4:c.3068del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407968.1:c.788-324del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.788-324del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.788-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.788-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.785-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.788-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.788-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.788-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.788-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.788-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.788-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.788-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.788-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.788-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.788-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.788-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.785-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.785-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.785-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.788-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.785-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.785-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.788-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.785-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.785-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.785-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.785-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.785-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.785-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.785-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.785-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.788-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.788-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.791-1440del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.785-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.779-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.710-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.647-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.710-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.710-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.707-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.710-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.710-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.707-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.665-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.665-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.665-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.665-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.665-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.665-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.662-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.662-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.662-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.662-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.665-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.665-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.665-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.665-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.665-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.665-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.665-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.665-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.665-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.662-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.662-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.662-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.662-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.662-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.653-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.647-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.647-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.647-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.647-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.647-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.647-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.647-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.647-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.647-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.647-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.644-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.644-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.644-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.644-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.647-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.647-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.644-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.647-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.644-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.788-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.785-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.587-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.584-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.587-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.578-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.578-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.578-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.578-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.578-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.578-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.578-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.578-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.578-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.575-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.575-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.578-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.575-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.524-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.524-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.524-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.524-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.524-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.524-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.455-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.521-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.521-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.521-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.452-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.452-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.407-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.284-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.578-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.578-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.788-1431del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-1431del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Breast-ovarian cancer, familial, susceptibility to, 1 (BROVCA1)
Synonyms:
OVARIAN CANCER, SUSCEPTIBILITY TO; Breast cancer, familial 1
Identifiers:
MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001140562Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)		Pathogenic
(May 28, 2019) 		unknownclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Mendelics, SCV001140562.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024