NM_007294.4(BRCA1):c.131_132del (p.Phe43_Cys44insTer) 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:: RCV000989915.2

Allele description [Variation Report for NM_007294.4(BRCA1):c.131_132del (p.Phe43_Cys44insTer)]

NM_007294.4(BRCA1):c.131_132del (p.Phe43_Cys44insTer)

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.131_132del (p.Phe43_Cys44insTer)

HGVS:

NC_000017.11:g.43115728_43115729del
NG_005905.2:g.102255_102256del
NM_001407571.1:c.-58_-57delGC
NM_001407581.1:c.131_132delGC
NM_001407582.1:c.131_132delGC
NM_001407583.1:c.131_132delGC
NM_001407585.1:c.131_132delGC
NM_001407587.1:c.131_132delGC
NM_001407590.1:c.131_132delGC
NM_001407591.1:c.131_132delGC
NM_001407593.1:c.131_132delGC
NM_001407594.1:c.131_132delGC
NM_001407596.1:c.131_132delGC
NM_001407597.1:c.131_132delGC
NM_001407598.1:c.131_132delGC
NM_001407602.1:c.131_132delGC
NM_001407603.1:c.131_132delGC
NM_001407605.1:c.131_132delGC
NM_001407610.1:c.131_132delGC
NM_001407611.1:c.131_132delGC
NM_001407612.1:c.131_132delGC
NM_001407613.1:c.131_132delGC
NM_001407614.1:c.131_132delGC
NM_001407615.1:c.131_132delGC
NM_001407616.1:c.131_132delGC
NM_001407617.1:c.131_132delGC
NM_001407618.1:c.131_132delGC
NM_001407619.1:c.131_132delGC
NM_001407620.1:c.131_132delGC
NM_001407621.1:c.131_132delGC
NM_001407622.1:c.131_132delGC
NM_001407623.1:c.131_132delGC
NM_001407624.1:c.131_132delGC
NM_001407625.1:c.131_132delGC
NM_001407626.1:c.131_132delGC
NM_001407627.1:c.131_132delGC
NM_001407628.1:c.131_132delGC
NM_001407629.1:c.131_132delGC
NM_001407630.1:c.131_132delGC
NM_001407631.1:c.131_132delGC
NM_001407632.1:c.131_132delGC
NM_001407633.1:c.131_132delGC
NM_001407634.1:c.131_132delGC
NM_001407635.1:c.131_132delGC
NM_001407636.1:c.131_132delGC
NM_001407637.1:c.131_132delGC
NM_001407638.1:c.131_132delGC
NM_001407639.1:c.131_132delGC
NM_001407640.1:c.131_132delGC
NM_001407641.1:c.131_132delGC
NM_001407642.1:c.131_132delGC
NM_001407644.1:c.131_132delGC
NM_001407645.1:c.131_132delGC
NM_001407646.1:c.131_132delGC
NM_001407647.1:c.131_132delGC
NM_001407648.1:c.131_132delGC
NM_001407649.1:c.131_132delGC
NM_001407652.1:c.131_132delGC
NM_001407653.1:c.131_132delGC
NM_001407654.1:c.131_132delGC
NM_001407655.1:c.131_132delGC
NM_001407656.1:c.131_132delGC
NM_001407657.1:c.131_132delGC
NM_001407658.1:c.131_132delGC
NM_001407659.1:c.131_132delGC
NM_001407660.1:c.131_132delGC
NM_001407661.1:c.131_132delGC
NM_001407662.1:c.131_132delGC
NM_001407663.1:c.131_132delGC
NM_001407664.1:c.131_132delGC
NM_001407665.1:c.131_132delGC
NM_001407666.1:c.131_132delGC
NM_001407667.1:c.131_132delGC
NM_001407668.1:c.131_132delGC
NM_001407669.1:c.131_132delGC
NM_001407670.1:c.131_132delGC
NM_001407671.1:c.131_132delGC
NM_001407672.1:c.131_132delGC
NM_001407673.1:c.131_132delGC
NM_001407674.1:c.131_132delGC
NM_001407675.1:c.131_132delGC
NM_001407676.1:c.131_132delGC
NM_001407677.1:c.131_132delGC
NM_001407678.1:c.131_132delGC
NM_001407679.1:c.131_132delGC
NM_001407680.1:c.131_132delGC
NM_001407681.1:c.131_132delGC
NM_001407682.1:c.131_132delGC
NM_001407683.1:c.131_132delGC
NM_001407684.1:c.131_132delGC
NM_001407685.1:c.131_132delGC
NM_001407686.1:c.131_132delGC
NM_001407687.1:c.131_132delGC
NM_001407688.1:c.131_132delGC
NM_001407689.1:c.131_132delGC
NM_001407690.1:c.131_132delGC
NM_001407691.1:c.131_132delGC
NM_001407694.1:c.-127_-126delGC
NM_001407695.1:c.-131_-130delGC
NM_001407696.1:c.-127_-126delGC
NM_001407697.1:c.-11_-10delGC
NM_001407724.1:c.-127_-126delGC
NM_001407725.1:c.-11_-10delGC
NM_001407727.1:c.-127_-126delGC
NM_001407728.1:c.-11_-10delGC
NM_001407729.1:c.-11_-10delGC
NM_001407730.1:c.-11_-10delGC
NM_001407731.1:c.-127_-126delGC
NM_001407733.1:c.-127_-126delGC
NM_001407734.1:c.-11_-10delGC
NM_001407735.1:c.-11_-10delGC
NM_001407737.1:c.-11_-10delGC
NM_001407739.1:c.-11_-10delGC
NM_001407740.1:c.-11_-10delGC
NM_001407741.1:c.-11_-10delGC
NM_001407743.1:c.-11_-10delGC
NM_001407745.1:c.-11_-10delGC
NM_001407746.1:c.-127_-126delGC
NM_001407748.1:c.-11_-10delGC
NM_001407749.1:c.-127_-126delGC
NM_001407752.1:c.-11_-10delGC
NM_001407838.1:c.-11_-10delGC
NM_001407839.1:c.-11_-10delGC
NM_001407842.1:c.-127_-126delGC
NM_001407843.1:c.-127_-126delGC
NM_001407844.1:c.-11_-10delGC
NM_001407846.1:c.-11_-10delGC
NM_001407847.1:c.-11_-10delGC
NM_001407848.1:c.-11_-10delGC
NM_001407850.1:c.-11_-10delGC
NM_001407851.1:c.-11_-10delGC
NM_001407853.1:c.-58_-57delGC
NM_001407854.1:c.131_132delGC
NM_001407858.1:c.131_132delGC
NM_001407859.1:c.131_132delGC
NM_001407860.1:c.131_132delGC
NM_001407861.1:c.131_132delGC
NM_001407862.1:c.131_132delGC
NM_001407863.1:c.131_132delGC
NM_001407874.1:c.131_132delGC
NM_001407875.1:c.131_132delGC
NM_001407879.1:c.-58_-57delGC
NM_001407882.1:c.-58_-57delGC
NM_001407884.1:c.-58_-57delGC
NM_001407885.1:c.-58_-57delGC
NM_001407886.1:c.-58_-57delGC
NM_001407887.1:c.-58_-57delGC
NM_001407889.1:c.-174_-173delGC
NM_001407894.1:c.-58_-57delGC
NM_001407895.1:c.-58_-57delGC
NM_001407896.1:c.-58_-57delGC
NM_001407897.1:c.-58_-57delGC
NM_001407899.1:c.-58_-57delGC
NM_001407900.1:c.-174_-173delGC
NM_001407904.1:c.-58_-57delGC
NM_001407906.1:c.-58_-57delGC
NM_001407907.1:c.-58_-57delGC
NM_001407908.1:c.-58_-57delGC
NM_001407909.1:c.-58_-57delGC
NM_001407910.1:c.-58_-57delGC
NM_001407915.1:c.-58_-57delGC
NM_001407916.1:c.-58_-57delGC
NM_001407917.1:c.-58_-57delGC
NM_001407918.1:c.-58_-57delGC
NM_001407919.1:c.131_132delGC
NM_001407920.1:c.-11_-10delGC
NM_001407921.1:c.-11_-10delGC
NM_001407922.1:c.-11_-10delGC
NM_001407923.1:c.-11_-10delGC
NM_001407926.1:c.-11_-10delGC
NM_001407927.1:c.-11_-10delGC
NM_001407930.1:c.-127_-126delGC
NM_001407933.1:c.-11_-10delGC
NM_001407934.1:c.-11_-10delGC
NM_001407935.1:c.-11_-10delGC
NM_001407937.1:c.131_132delGC
NM_001407938.1:c.131_132delGC
NM_001407939.1:c.131_132delGC
NM_001407940.1:c.131_132delGC
NM_001407941.1:c.131_132delGC
NM_001407942.1:c.-127_-126delGC
NM_001407943.1:c.-11_-10delGC
NM_001407944.1:c.-11_-10delGC
NM_001407946.1:c.-58_-57delGC
NM_001407947.1:c.-58_-57delGC
NM_001407948.1:c.-58_-57delGC
NM_001407949.1:c.-58_-57delGC
NM_001407950.1:c.-58_-57delGC
NM_001407951.1:c.-58_-57delGC
NM_001407952.1:c.-58_-57delGC
NM_001407953.1:c.-58_-57delGC
NM_001407954.1:c.-58_-57delGC
NM_001407955.1:c.-58_-57delGC
NM_001407956.1:c.-58_-57delGC
NM_001407957.1:c.-58_-57delGC
NM_001407958.1:c.-58_-57delGC
NM_001407960.1:c.-173_-172delGC
NM_001407962.1:c.-173_-172delGC
NM_001407964.1:c.-11_-10delGC
NM_001407965.1:c.-289_-288delGC
NM_001407968.1:c.131_132delGC
NM_001407969.1:c.131_132delGC
NM_001407970.1:c.131_132delGC
NM_001407971.1:c.131_132delGC
NM_001407972.1:c.131_132delGC
NM_001407973.1:c.131_132delGC
NM_001407974.1:c.131_132delGC
NM_001407975.1:c.131_132delGC
NM_001407976.1:c.131_132delGC
NM_001407977.1:c.131_132delGC
NM_001407978.1:c.131_132delGC
NM_001407979.1:c.131_132delGC
NM_001407980.1:c.131_132delGC
NM_001407981.1:c.131_132delGC
NM_001407982.1:c.131_132delGC
NM_001407983.1:c.131_132delGC
NM_001407984.1:c.131_132delGC
NM_001407985.1:c.131_132delGC
NM_001407986.1:c.131_132delGC
NM_001407990.1:c.131_132delGC
NM_001407991.1:c.131_132delGC
NM_001407992.1:c.131_132delGC
NM_001407993.1:c.131_132delGC
NM_001408392.1:c.131_132delGC
NM_001408396.1:c.131_132delGC
NM_001408397.1:c.131_132delGC
NM_001408398.1:c.131_132delGC
NM_001408399.1:c.131_132delGC
NM_001408400.1:c.131_132delGC
NM_001408401.1:c.131_132delGC
NM_001408402.1:c.131_132delGC
NM_001408403.1:c.131_132delGC
NM_001408404.1:c.131_132delGC
NM_001408406.1:c.131_132delGC
NM_001408407.1:c.131_132delGC
NM_001408408.1:c.131_132delGC
NM_001408409.1:c.131_132delGC
NM_001408410.1:c.-11_-10delGC
NM_001408411.1:c.131_132delGC
NM_001408412.1:c.131_132delGC
NM_001408413.1:c.131_132delGC
NM_001408414.1:c.131_132delGC
NM_001408415.1:c.131_132delGC
NM_001408416.1:c.131_132delGC
NM_001408418.1:c.131_132delGC
NM_001408419.1:c.131_132delGC
NM_001408420.1:c.131_132delGC
NM_001408421.1:c.131_132delGC
NM_001408422.1:c.131_132delGC
NM_001408423.1:c.131_132delGC
NM_001408424.1:c.131_132delGC
NM_001408425.1:c.131_132delGC
NM_001408426.1:c.131_132delGC
NM_001408427.1:c.131_132delGC
NM_001408428.1:c.131_132delGC
NM_001408429.1:c.131_132delGC
NM_001408430.1:c.131_132delGC
NM_001408431.1:c.131_132delGC
NM_001408432.1:c.131_132delGC
NM_001408433.1:c.131_132delGC
NM_001408434.1:c.131_132delGC
NM_001408435.1:c.131_132delGC
NM_001408436.1:c.131_132delGC
NM_001408437.1:c.131_132delGC
NM_001408438.1:c.131_132delGC
NM_001408439.1:c.131_132delGC
NM_001408440.1:c.131_132delGC
NM_001408441.1:c.131_132delGC
NM_001408442.1:c.131_132delGC
NM_001408443.1:c.131_132delGC
NM_001408444.1:c.131_132delGC
NM_001408445.1:c.131_132delGC
NM_001408446.1:c.131_132delGC
NM_001408447.1:c.131_132delGC
NM_001408448.1:c.131_132delGC
NM_001408450.1:c.131_132delGC
NM_001408452.1:c.-11_-10delGC
NM_001408453.1:c.-11_-10delGC
NM_001408455.1:c.-127_-126delGC
NM_001408456.1:c.-127_-126delGC
NM_001408458.1:c.-11_-10delGC
NM_001408462.1:c.-11_-10delGC
NM_001408463.1:c.-11_-10delGC
NM_001408465.1:c.-131_-130delGC
NM_001408466.1:c.-11_-10delGC
NM_001408468.1:c.-127_-126delGC
NM_001408469.1:c.-11_-10delGC
NM_001408470.1:c.-11_-10delGC
NM_001408472.1:c.131_132delGC
NM_001408473.1:c.131_132delGC
NM_001408474.1:c.131_132delGC
NM_001408475.1:c.131_132delGC
NM_001408476.1:c.131_132delGC
NM_001408478.1:c.-58_-57delGC
NM_001408479.1:c.-58_-57delGC
NM_001408480.1:c.-58_-57delGC
NM_001408481.1:c.-58_-57delGC
NM_001408482.1:c.-58_-57delGC
NM_001408483.1:c.-58_-57delGC
NM_001408484.1:c.-58_-57delGC
NM_001408485.1:c.-58_-57delGC
NM_001408489.1:c.-58_-57delGC
NM_001408490.1:c.-58_-57delGC
NM_001408491.1:c.-58_-57delGC
NM_001408492.1:c.-174_-173delGC
NM_001408493.1:c.-58_-57delGC
NM_001408494.1:c.131_132delGC
NM_001408495.1:c.131_132delGC
NM_001408497.1:c.-11_-10delGC
NM_001408499.1:c.-11_-10delGC
NM_001408500.1:c.-11_-10delGC
NM_001408501.1:c.-127_-126delGC
NM_001408502.1:c.-58_-57delGC
NM_001408503.1:c.-11_-10delGC
NM_001408504.1:c.-11_-10delGC
NM_001408505.1:c.-11_-10delGC
NM_001408506.1:c.-58_-57delGC
NM_001408507.1:c.-58_-57delGC
NM_001408508.1:c.-58_-57delGC
NM_001408509.1:c.-58_-57delGC
NM_001408510.1:c.-173_-172delGC
NM_001408512.1:c.-173_-172delGC
NM_001408513.1:c.-58_-57delGC
NM_001408514.1:c.-58_-57delGC
NM_007294.4:c.131_132delMANE SELECT
NM_007297.4:c.-8+8288_-8+8289del
NM_007298.4:c.131_132delGC
NM_007299.4:c.131_132del
NM_007300.4:c.131_132del
NM_007304.2:c.131_132delGC
NP_001394510.1:p.Cys44Terfs
NP_001394511.1:p.Cys44Terfs
NP_001394512.1:p.Cys44Terfs
NP_001394514.1:p.Cys44Terfs
NP_001394516.1:p.Cys44Terfs
NP_001394519.1:p.Cys44Terfs
NP_001394520.1:p.Cys44Terfs
NP_001394522.1:p.Cys44Terfs
NP_001394523.1:p.Cys44Terfs
NP_001394525.1:p.Cys44Terfs
NP_001394526.1:p.Cys44Terfs
NP_001394527.1:p.Cys44Terfs
NP_001394531.1:p.Cys44Terfs
NP_001394532.1:p.Cys44Terfs
NP_001394534.1:p.Cys44Terfs
NP_001394539.1:p.Cys44Terfs
NP_001394540.1:p.Cys44Terfs
NP_001394541.1:p.Cys44Terfs
NP_001394542.1:p.Cys44Terfs
NP_001394543.1:p.Cys44Terfs
NP_001394544.1:p.Cys44Terfs
NP_001394545.1:p.Cys44Terfs
NP_001394546.1:p.Cys44Terfs
NP_001394547.1:p.Cys44Terfs
NP_001394548.1:p.Cys44Terfs
NP_001394549.1:p.Cys44Terfs
NP_001394550.1:p.Cys44Terfs
NP_001394551.1:p.Cys44Terfs
NP_001394552.1:p.Cys44Terfs
NP_001394553.1:p.Cys44Terfs
NP_001394554.1:p.Cys44Terfs
NP_001394555.1:p.Cys44Terfs
NP_001394556.1:p.Cys44Terfs
NP_001394557.1:p.Cys44Terfs
NP_001394558.1:p.Cys44Terfs
NP_001394559.1:p.Cys44Terfs
NP_001394560.1:p.Cys44Terfs
NP_001394561.1:p.Cys44Terfs
NP_001394562.1:p.Cys44Terfs
NP_001394563.1:p.Cys44Terfs
NP_001394564.1:p.Cys44Terfs
NP_001394565.1:p.Cys44Terfs
NP_001394566.1:p.Cys44Terfs
NP_001394567.1:p.Cys44Terfs
NP_001394568.1:p.Cys44Terfs
NP_001394569.1:p.Cys44Terfs
NP_001394570.1:p.Cys44Terfs
NP_001394571.1:p.Cys44Terfs
NP_001394573.1:p.Cys44Terfs
NP_001394574.1:p.Cys44Terfs
NP_001394575.1:p.Cys44Terfs
NP_001394576.1:p.Cys44Terfs
NP_001394577.1:p.Cys44Terfs
NP_001394578.1:p.Cys44Terfs
NP_001394581.1:p.Cys44Terfs
NP_001394582.1:p.Cys44Terfs
NP_001394583.1:p.Cys44Terfs
NP_001394584.1:p.Cys44Terfs
NP_001394585.1:p.Cys44Terfs
NP_001394586.1:p.Cys44Terfs
NP_001394587.1:p.Cys44Terfs
NP_001394588.1:p.Cys44Terfs
NP_001394589.1:p.Cys44Terfs
NP_001394590.1:p.Cys44Terfs
NP_001394591.1:p.Cys44Terfs
NP_001394592.1:p.Cys44Terfs
NP_001394593.1:p.Cys44Terfs
NP_001394594.1:p.Cys44Terfs
NP_001394595.1:p.Cys44Terfs
NP_001394596.1:p.Cys44Terfs
NP_001394597.1:p.Cys44Terfs
NP_001394598.1:p.Cys44Terfs
NP_001394599.1:p.Cys44Terfs
NP_001394600.1:p.Cys44Terfs
NP_001394601.1:p.Cys44Terfs
NP_001394602.1:p.Cys44Terfs
NP_001394603.1:p.Cys44Terfs
NP_001394604.1:p.Cys44Terfs
NP_001394605.1:p.Cys44Terfs
NP_001394606.1:p.Cys44Terfs
NP_001394607.1:p.Cys44Terfs
NP_001394608.1:p.Cys44Terfs
NP_001394609.1:p.Cys44Terfs
NP_001394610.1:p.Cys44Terfs
NP_001394611.1:p.Cys44Terfs
NP_001394612.1:p.Cys44Terfs
NP_001394613.1:p.Cys44Terfs
NP_001394614.1:p.Cys44Terfs
NP_001394615.1:p.Cys44Terfs
NP_001394616.1:p.Cys44Terfs
NP_001394617.1:p.Cys44Terfs
NP_001394618.1:p.Cys44Terfs
NP_001394619.1:p.Cys44Terfs
NP_001394620.1:p.Cys44Terfs
NP_001394783.1:p.Cys44Terfs
NP_001394787.1:p.Cys44Terfs
NP_001394788.1:p.Cys44Terfs
NP_001394789.1:p.Cys44Terfs
NP_001394790.1:p.Cys44Terfs
NP_001394791.1:p.Cys44Terfs
NP_001394792.1:p.Cys44Terfs
NP_001394803.1:p.Cys44Terfs
NP_001394804.1:p.Cys44Terfs
NP_001394848.1:p.Cys44Terfs
NP_001394866.1:p.Cys44Terfs
NP_001394867.1:p.Cys44Terfs
NP_001394868.1:p.Cys44Terfs
NP_001394869.1:p.Cys44Terfs
NP_001394870.1:p.Cys44Terfs
NP_001394897.1:p.Cys44Terfs
NP_001394898.1:p.Cys44Terfs
NP_001394899.1:p.Cys44Terfs
NP_001394900.1:p.Cys44Terfs
NP_001394901.1:p.Cys44Terfs
NP_001394902.1:p.Cys44Terfs
NP_001394903.1:p.Cys44Terfs
NP_001394904.1:p.Cys44Terfs
NP_001394905.1:p.Cys44Terfs
NP_001394906.1:p.Cys44Terfs
NP_001394907.1:p.Cys44Terfs
NP_001394908.1:p.Cys44Terfs
NP_001394909.1:p.Cys44Terfs
NP_001394910.1:p.Cys44Terfs
NP_001394911.1:p.Cys44Terfs
NP_001394912.1:p.Cys44Terfs
NP_001394913.1:p.Cys44Terfs
NP_001394914.1:p.Cys44Terfs
NP_001394915.1:p.Cys44Terfs
NP_001394919.1:p.Cys44Terfs
NP_001394920.1:p.Cys44Terfs
NP_001394921.1:p.Cys44Terfs
NP_001394922.1:p.Cys44Terfs
NP_001395321.1:p.Cys44Terfs
NP_001395325.1:p.Cys44Terfs
NP_001395326.1:p.Cys44Terfs
NP_001395327.1:p.Cys44Terfs
NP_001395328.1:p.Cys44Terfs
NP_001395329.1:p.Cys44Terfs
NP_001395330.1:p.Cys44Terfs
NP_001395331.1:p.Cys44Terfs
NP_001395332.1:p.Cys44Terfs
NP_001395333.1:p.Cys44Terfs
NP_001395335.1:p.Cys44Terfs
NP_001395336.1:p.Cys44Terfs
NP_001395337.1:p.Cys44Terfs
NP_001395338.1:p.Cys44Terfs
NP_001395340.1:p.Cys44Terfs
NP_001395341.1:p.Cys44Terfs
NP_001395342.1:p.Cys44Terfs
NP_001395343.1:p.Cys44Terfs
NP_001395344.1:p.Cys44Terfs
NP_001395345.1:p.Cys44Terfs
NP_001395347.1:p.Cys44Terfs
NP_001395348.1:p.Cys44Terfs
NP_001395349.1:p.Cys44Terfs
NP_001395350.1:p.Cys44Terfs
NP_001395351.1:p.Cys44Terfs
NP_001395352.1:p.Cys44Terfs
NP_001395353.1:p.Cys44Terfs
NP_001395354.1:p.Cys44Terfs
NP_001395355.1:p.Cys44Terfs
NP_001395356.1:p.Cys44Terfs
NP_001395357.1:p.Cys44Terfs
NP_001395358.1:p.Cys44Terfs
NP_001395359.1:p.Cys44Terfs
NP_001395360.1:p.Cys44Terfs
NP_001395361.1:p.Cys44Terfs
NP_001395362.1:p.Cys44Terfs
NP_001395363.1:p.Cys44Terfs
NP_001395364.1:p.Cys44Terfs
NP_001395365.1:p.Cys44Terfs
NP_001395366.1:p.Cys44Terfs
NP_001395367.1:p.Cys44Terfs
NP_001395368.1:p.Cys44Terfs
NP_001395369.1:p.Cys44Terfs
NP_001395370.1:p.Cys44Terfs
NP_001395371.1:p.Cys44Terfs
NP_001395372.1:p.Cys44Terfs
NP_001395373.1:p.Cys44Terfs
NP_001395374.1:p.Cys44Terfs
NP_001395375.1:p.Cys44Terfs
NP_001395376.1:p.Cys44Terfs
NP_001395377.1:p.Cys44Terfs
NP_001395379.1:p.Cys44Terfs
NP_001395401.1:p.Cys44Terfs
NP_001395402.1:p.Cys44Terfs
NP_001395403.1:p.Cys44Terfs
NP_001395404.1:p.Cys44Terfs
NP_001395405.1:p.Cys44Terfs
NP_001395423.1:p.Cys44Terfs
NP_001395424.1:p.Cys44Terfs
NP_009225.1:p.Cys44Terfs
NP_009225.1:p.Phe43_Cys44insTer
NP_009229.2:p.Cys44Terfs
NP_009229.2:p.Phe43_Cys44insTer
NP_009230.2:p.Phe43_Cys44insTer
NP_009231.2:p.Phe43_Cys44insTer
NP_009235.2:p.Cys44Terfs
LRG_292t1:c.131_132del
LRG_292:g.102255_102256del
LRG_292p1:p.Cys44Terfs
NC_000017.10:g.41267745_41267746del
NC_000017.10:g.41267745_41267746delGC
NM_007294.3:c.131_132delGC
NM_007298.3:c.131_132del
NR_027676.2:n.333_334del

Links:

dbSNP: rs1597911705

NCBI 1000 Genomes Browser:

rs1597911705

Molecular consequence:

NM_001407581.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407582.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407583.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407585.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407587.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407590.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407591.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407593.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407594.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407596.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407597.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407598.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407602.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407603.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407605.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407610.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407611.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407612.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407613.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407614.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407615.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407616.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407617.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407618.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407619.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407620.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407621.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407622.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407623.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407624.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407625.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407626.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407627.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407628.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407629.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407630.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407631.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407632.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407633.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407634.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407635.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407636.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407637.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407638.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407639.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407640.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407641.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407642.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407644.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407645.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407646.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407647.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407648.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407649.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407652.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407653.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407654.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407655.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407656.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407657.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407658.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407659.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407660.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407661.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407662.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407663.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407664.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407665.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407666.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407667.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407668.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407669.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407670.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407671.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407672.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407673.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407674.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407675.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407676.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407677.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407678.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407679.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407680.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407681.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407682.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407683.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407684.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407685.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407686.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407687.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407688.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407689.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407690.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407691.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407854.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407858.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407859.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407860.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407861.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407862.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407863.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407874.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407875.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407919.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407937.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407938.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407939.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407940.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407941.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407968.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407969.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407970.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407971.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407972.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407973.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407974.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407975.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407976.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407977.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407978.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407979.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407980.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407981.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407982.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407983.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407984.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407985.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407986.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407990.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407991.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407992.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407993.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408392.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408396.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408397.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408398.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408399.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408400.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408401.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408402.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408403.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408404.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408406.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408407.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408408.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408409.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408411.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408412.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408413.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408414.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408415.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408416.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408418.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408419.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408420.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408421.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408422.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408423.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408424.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408425.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408426.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408427.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408428.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408429.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408430.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408431.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408432.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408433.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408434.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408435.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408436.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408437.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408438.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408439.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408440.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408441.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408442.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408443.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408444.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408445.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408446.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408447.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408448.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408450.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408472.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408473.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408474.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408475.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408476.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408494.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408495.1:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007298.4:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007304.2:c.131_132delGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007297.4:c.-8+8288_-8+8289del - intron variant - [Sequence Ontology: SO:0001627]
NR_027676.2:n.333_334del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001407581.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407582.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407583.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407585.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407587.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407590.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407591.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407593.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407594.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407596.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407597.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407598.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407602.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407603.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407605.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407610.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407611.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407612.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407613.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407614.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407615.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407616.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407617.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407618.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407619.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407620.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407621.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407622.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407623.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407624.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407625.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407626.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407627.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407628.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407629.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407630.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407631.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407632.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407633.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407634.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407635.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407636.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407637.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407638.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407639.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407640.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407641.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407642.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407644.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407645.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407646.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407647.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407648.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407649.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407652.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407653.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407654.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407655.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407656.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407657.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407658.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407659.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407660.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407661.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407662.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407663.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407664.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407665.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407666.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407667.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407668.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407669.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407670.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407671.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407672.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407673.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407674.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407675.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407676.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407677.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407678.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407679.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407680.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407681.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407682.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407683.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407684.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407685.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407686.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407687.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407688.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407689.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407690.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407691.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407854.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407858.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407859.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407860.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407861.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407862.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407863.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407874.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407875.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407919.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407937.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407938.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407939.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407940.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407941.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407968.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407969.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407970.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407971.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407972.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407973.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407974.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407975.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407976.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407977.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407978.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407979.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407980.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407981.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407982.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407983.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407984.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407985.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407986.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407990.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407991.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407992.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407993.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408392.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408396.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408397.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408398.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408399.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408400.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408401.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408402.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408403.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408404.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408406.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408407.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408408.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408409.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408411.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408412.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408413.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408414.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408415.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408416.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408418.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408419.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408420.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408421.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408422.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408423.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408424.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408425.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408426.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408427.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408428.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408429.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408430.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408431.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408432.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408433.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408434.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408435.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408436.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408437.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408438.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408439.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408440.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408441.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408442.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408443.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408444.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408445.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408446.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408447.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408448.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408450.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408472.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408473.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408474.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408475.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408476.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408494.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408495.1:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_007294.4:c.131_132del - nonsense - [Sequence Ontology: SO:0001587]
NM_007298.4:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]
NM_007299.4:c.131_132del - nonsense - [Sequence Ontology: SO:0001587]
NM_007300.4:c.131_132del - nonsense - [Sequence Ontology: SO:0001587]
NM_007304.2:c.131_132delGC - nonsense - [Sequence Ontology: SO:0001587]

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

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Homo sapiens protein kinase cAMP-dependent type I regulatory subunit beta (PRKAR...
Homo sapiens protein kinase cAMP-dependent type I regulatory subunit beta (PRKAR1B), RefSeqGene on chromosome 7
gi|916539821|ref|NG_042811.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001140647	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2017)	Pathogenic (May 28, 2019)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001140647

Mendelics

criteria provided, single submitter

(Mendelics Assertion Criteria 2017)

Pathogenic
(May 28, 2019)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Mendelics, SCV001140647.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 8, 2024

ClinVar

Relating variation to medicine