NM_007294.4(BRCA1):c.3178G>T (p.Glu1060Ter) AND not provided

Germline classification:: Pathogenic (5 submissions)
Last evaluated:: Feb 24, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000212171.16

Allele description [Variation Report for NM_007294.4(BRCA1):c.3178G>T (p.Glu1060Ter)]

NM_007294.4(BRCA1):c.3178G>T (p.Glu1060Ter)

Gene:

BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.3178G>T (p.Glu1060Ter)

Other names:

p.E1060*:GAA>TAA

HGVS:

NC_000017.11:g.43092353C>A
NG_005905.2:g.125631G>T
NG_087068.1:g.1335C>A
NM_001407571.1:c.2965G>T
NM_001407581.1:c.3178G>T
NM_001407582.1:c.3178G>T
NM_001407583.1:c.3178G>T
NM_001407585.1:c.3178G>T
NM_001407587.1:c.3175G>T
NM_001407590.1:c.3175G>T
NM_001407591.1:c.3175G>T
NM_001407593.1:c.3178G>T
NM_001407594.1:c.3178G>T
NM_001407596.1:c.3178G>T
NM_001407597.1:c.3178G>T
NM_001407598.1:c.3178G>T
NM_001407602.1:c.3178G>T
NM_001407603.1:c.3178G>T
NM_001407605.1:c.3178G>T
NM_001407610.1:c.3175G>T
NM_001407611.1:c.3175G>T
NM_001407612.1:c.3175G>T
NM_001407613.1:c.3175G>T
NM_001407614.1:c.3175G>T
NM_001407615.1:c.3175G>T
NM_001407616.1:c.3178G>T
NM_001407617.1:c.3178G>T
NM_001407618.1:c.3178G>T
NM_001407619.1:c.3178G>T
NM_001407620.1:c.3178G>T
NM_001407621.1:c.3178G>T
NM_001407622.1:c.3178G>T
NM_001407623.1:c.3178G>T
NM_001407624.1:c.3178G>T
NM_001407625.1:c.3178G>T
NM_001407626.1:c.3178G>T
NM_001407627.1:c.3175G>T
NM_001407628.1:c.3175G>T
NM_001407629.1:c.3175G>T
NM_001407630.1:c.3175G>T
NM_001407631.1:c.3175G>T
NM_001407632.1:c.3175G>T
NM_001407633.1:c.3175G>T
NM_001407634.1:c.3175G>T
NM_001407635.1:c.3175G>T
NM_001407636.1:c.3175G>T
NM_001407637.1:c.3175G>T
NM_001407638.1:c.3175G>T
NM_001407639.1:c.3178G>T
NM_001407640.1:c.3178G>T
NM_001407641.1:c.3178G>T
NM_001407642.1:c.3178G>T
NM_001407644.1:c.3175G>T
NM_001407645.1:c.3175G>T
NM_001407646.1:c.3169G>T
NM_001407647.1:c.3169G>T
NM_001407648.1:c.3055G>T
NM_001407649.1:c.3052G>T
NM_001407652.1:c.3178G>T
NM_001407653.1:c.3100G>T
NM_001407654.1:c.3100G>T
NM_001407655.1:c.3100G>T
NM_001407656.1:c.3100G>T
NM_001407657.1:c.3100G>T
NM_001407658.1:c.3100G>T
NM_001407659.1:c.3097G>T
NM_001407660.1:c.3097G>T
NM_001407661.1:c.3097G>T
NM_001407662.1:c.3097G>T
NM_001407663.1:c.3100G>T
NM_001407664.1:c.3055G>T
NM_001407665.1:c.3055G>T
NM_001407666.1:c.3055G>T
NM_001407667.1:c.3055G>T
NM_001407668.1:c.3055G>T
NM_001407669.1:c.3055G>T
NM_001407670.1:c.3052G>T
NM_001407671.1:c.3052G>T
NM_001407672.1:c.3052G>T
NM_001407673.1:c.3052G>T
NM_001407674.1:c.3055G>T
NM_001407675.1:c.3055G>T
NM_001407676.1:c.3055G>T
NM_001407677.1:c.3055G>T
NM_001407678.1:c.3055G>T
NM_001407679.1:c.3055G>T
NM_001407680.1:c.3055G>T
NM_001407681.1:c.3055G>T
NM_001407682.1:c.3055G>T
NM_001407683.1:c.3055G>T
NM_001407684.1:c.3178G>T
NM_001407685.1:c.3052G>T
NM_001407686.1:c.3052G>T
NM_001407687.1:c.3052G>T
NM_001407688.1:c.3052G>T
NM_001407689.1:c.3052G>T
NM_001407690.1:c.3052G>T
NM_001407691.1:c.3052G>T
NM_001407692.1:c.3037G>T
NM_001407694.1:c.3037G>T
NM_001407695.1:c.3037G>T
NM_001407696.1:c.3037G>T
NM_001407697.1:c.3037G>T
NM_001407698.1:c.3037G>T
NM_001407724.1:c.3037G>T
NM_001407725.1:c.3037G>T
NM_001407726.1:c.3037G>T
NM_001407727.1:c.3037G>T
NM_001407728.1:c.3037G>T
NM_001407729.1:c.3037G>T
NM_001407730.1:c.3037G>T
NM_001407731.1:c.3037G>T
NM_001407732.1:c.3037G>T
NM_001407733.1:c.3037G>T
NM_001407734.1:c.3037G>T
NM_001407735.1:c.3037G>T
NM_001407736.1:c.3037G>T
NM_001407737.1:c.3037G>T
NM_001407738.1:c.3037G>T
NM_001407739.1:c.3037G>T
NM_001407740.1:c.3034G>T
NM_001407741.1:c.3034G>T
NM_001407742.1:c.3034G>T
NM_001407743.1:c.3034G>T
NM_001407744.1:c.3034G>T
NM_001407745.1:c.3034G>T
NM_001407746.1:c.3034G>T
NM_001407747.1:c.3034G>T
NM_001407748.1:c.3034G>T
NM_001407749.1:c.3034G>T
NM_001407750.1:c.3037G>T
NM_001407751.1:c.3037G>T
NM_001407752.1:c.3037G>T
NM_001407838.1:c.3034G>T
NM_001407839.1:c.3034G>T
NM_001407841.1:c.3034G>T
NM_001407842.1:c.3034G>T
NM_001407843.1:c.3034G>T
NM_001407844.1:c.3034G>T
NM_001407845.1:c.3034G>T
NM_001407846.1:c.3034G>T
NM_001407847.1:c.3034G>T
NM_001407848.1:c.3034G>T
NM_001407849.1:c.3034G>T
NM_001407850.1:c.3037G>T
NM_001407851.1:c.3037G>T
NM_001407852.1:c.3037G>T
NM_001407853.1:c.2965G>T
NM_001407854.1:c.3178G>T
NM_001407858.1:c.3178G>T
NM_001407859.1:c.3178G>T
NM_001407860.1:c.3175G>T
NM_001407861.1:c.3175G>T
NM_001407862.1:c.2977G>T
NM_001407863.1:c.3055G>T
NM_001407874.1:c.2974G>T
NM_001407875.1:c.2974G>T
NM_001407879.1:c.2968G>T
NM_001407881.1:c.2968G>T
NM_001407882.1:c.2968G>T
NM_001407884.1:c.2968G>T
NM_001407885.1:c.2968G>T
NM_001407886.1:c.2968G>T
NM_001407887.1:c.2968G>T
NM_001407889.1:c.2968G>T
NM_001407894.1:c.2965G>T
NM_001407895.1:c.2965G>T
NM_001407896.1:c.2965G>T
NM_001407897.1:c.2965G>T
NM_001407898.1:c.2965G>T
NM_001407899.1:c.2965G>T
NM_001407900.1:c.2968G>T
NM_001407902.1:c.2968G>T
NM_001407904.1:c.2968G>T
NM_001407906.1:c.2968G>T
NM_001407907.1:c.2968G>T
NM_001407908.1:c.2968G>T
NM_001407909.1:c.2968G>T
NM_001407910.1:c.2968G>T
NM_001407915.1:c.2965G>T
NM_001407916.1:c.2965G>T
NM_001407917.1:c.2965G>T
NM_001407918.1:c.2965G>T
NM_001407919.1:c.3055G>T
NM_001407920.1:c.2914G>T
NM_001407921.1:c.2914G>T
NM_001407922.1:c.2914G>T
NM_001407923.1:c.2914G>T
NM_001407924.1:c.2914G>T
NM_001407925.1:c.2914G>T
NM_001407926.1:c.2914G>T
NM_001407927.1:c.2914G>T
NM_001407928.1:c.2914G>T
NM_001407929.1:c.2914G>T
NM_001407930.1:c.2911G>T
NM_001407931.1:c.2911G>T
NM_001407932.1:c.2911G>T
NM_001407933.1:c.2914G>T
NM_001407934.1:c.2911G>T
NM_001407935.1:c.2914G>T
NM_001407936.1:c.2911G>T
NM_001407937.1:c.3055G>T
NM_001407938.1:c.3055G>T
NM_001407939.1:c.3055G>T
NM_001407940.1:c.3052G>T
NM_001407941.1:c.3052G>T
NM_001407942.1:c.3037G>T
NM_001407943.1:c.3034G>T
NM_001407944.1:c.3037G>T
NM_001407945.1:c.3037G>T
NM_001407946.1:c.2845G>T
NM_001407947.1:c.2845G>T
NM_001407948.1:c.2845G>T
NM_001407949.1:c.2845G>T
NM_001407950.1:c.2845G>T
NM_001407951.1:c.2845G>T
NM_001407952.1:c.2845G>T
NM_001407953.1:c.2845G>T
NM_001407954.1:c.2842G>T
NM_001407955.1:c.2842G>T
NM_001407956.1:c.2842G>T
NM_001407957.1:c.2845G>T
NM_001407958.1:c.2842G>T
NM_001407959.1:c.2797G>T
NM_001407960.1:c.2797G>T
NM_001407962.1:c.2794G>T
NM_001407963.1:c.2797G>T
NM_001407964.1:c.3034G>T
NM_001407965.1:c.2674G>T
NM_001407966.1:c.2290G>T
NM_001407967.1:c.2290G>T
NM_001407968.1:c.788-214G>T
NM_001407969.1:c.788-214G>T
NM_001407970.1:c.788-1321G>T
NM_001407971.1:c.788-1321G>T
NM_001407972.1:c.785-1321G>T
NM_001407973.1:c.788-1321G>T
NM_001407974.1:c.788-1321G>T
NM_001407975.1:c.788-1321G>T
NM_001407976.1:c.788-1321G>T
NM_001407977.1:c.788-1321G>T
NM_001407978.1:c.788-1321G>T
NM_001407979.1:c.788-1321G>T
NM_001407980.1:c.788-1321G>T
NM_001407981.1:c.788-1321G>T
NM_001407982.1:c.788-1321G>T
NM_001407983.1:c.788-1321G>T
NM_001407984.1:c.785-1321G>T
NM_001407985.1:c.785-1321G>T
NM_001407986.1:c.785-1321G>T
NM_001407990.1:c.788-1321G>T
NM_001407991.1:c.785-1321G>T
NM_001407992.1:c.785-1321G>T
NM_001407993.1:c.788-1321G>T
NM_001408392.1:c.785-1321G>T
NM_001408396.1:c.785-1321G>T
NM_001408397.1:c.785-1321G>T
NM_001408398.1:c.785-1321G>T
NM_001408399.1:c.785-1321G>T
NM_001408400.1:c.785-1321G>T
NM_001408401.1:c.785-1321G>T
NM_001408402.1:c.785-1321G>T
NM_001408403.1:c.788-1321G>T
NM_001408404.1:c.788-1321G>T
NM_001408406.1:c.791-1330G>T
NM_001408407.1:c.785-1321G>T
NM_001408408.1:c.779-1321G>T
NM_001408409.1:c.710-1321G>T
NM_001408410.1:c.647-1321G>T
NM_001408411.1:c.710-1321G>T
NM_001408412.1:c.710-1321G>T
NM_001408413.1:c.707-1321G>T
NM_001408414.1:c.710-1321G>T
NM_001408415.1:c.710-1321G>T
NM_001408416.1:c.707-1321G>T
NM_001408418.1:c.671-1321G>T
NM_001408419.1:c.671-1321G>T
NM_001408420.1:c.671-1321G>T
NM_001408421.1:c.668-1321G>T
NM_001408422.1:c.671-1321G>T
NM_001408423.1:c.671-1321G>T
NM_001408424.1:c.668-1321G>T
NM_001408425.1:c.665-1321G>T
NM_001408426.1:c.665-1321G>T
NM_001408427.1:c.665-1321G>T
NM_001408428.1:c.665-1321G>T
NM_001408429.1:c.665-1321G>T
NM_001408430.1:c.665-1321G>T
NM_001408431.1:c.668-1321G>T
NM_001408432.1:c.662-1321G>T
NM_001408433.1:c.662-1321G>T
NM_001408434.1:c.662-1321G>T
NM_001408435.1:c.662-1321G>T
NM_001408436.1:c.665-1321G>T
NM_001408437.1:c.665-1321G>T
NM_001408438.1:c.665-1321G>T
NM_001408439.1:c.665-1321G>T
NM_001408440.1:c.665-1321G>T
NM_001408441.1:c.665-1321G>T
NM_001408442.1:c.665-1321G>T
NM_001408443.1:c.665-1321G>T
NM_001408444.1:c.665-1321G>T
NM_001408445.1:c.662-1321G>T
NM_001408446.1:c.662-1321G>T
NM_001408447.1:c.662-1321G>T
NM_001408448.1:c.662-1321G>T
NM_001408450.1:c.662-1321G>T
NM_001408451.1:c.653-1321G>T
NM_001408452.1:c.647-1321G>T
NM_001408453.1:c.647-1321G>T
NM_001408454.1:c.647-1321G>T
NM_001408455.1:c.647-1321G>T
NM_001408456.1:c.647-1321G>T
NM_001408457.1:c.647-1321G>T
NM_001408458.1:c.647-1321G>T
NM_001408459.1:c.647-1321G>T
NM_001408460.1:c.647-1321G>T
NM_001408461.1:c.647-1321G>T
NM_001408462.1:c.644-1321G>T
NM_001408463.1:c.644-1321G>T
NM_001408464.1:c.644-1321G>T
NM_001408465.1:c.644-1321G>T
NM_001408466.1:c.647-1321G>T
NM_001408467.1:c.647-1321G>T
NM_001408468.1:c.644-1321G>T
NM_001408469.1:c.647-1321G>T
NM_001408470.1:c.644-1321G>T
NM_001408472.1:c.788-1321G>T
NM_001408473.1:c.785-1321G>T
NM_001408474.1:c.587-1321G>T
NM_001408475.1:c.584-1321G>T
NM_001408476.1:c.587-1321G>T
NM_001408478.1:c.578-1321G>T
NM_001408479.1:c.578-1321G>T
NM_001408480.1:c.578-1321G>T
NM_001408481.1:c.578-1321G>T
NM_001408482.1:c.578-1321G>T
NM_001408483.1:c.578-1321G>T
NM_001408484.1:c.578-1321G>T
NM_001408485.1:c.578-1321G>T
NM_001408489.1:c.578-1321G>T
NM_001408490.1:c.575-1321G>T
NM_001408491.1:c.575-1321G>T
NM_001408492.1:c.578-1321G>T
NM_001408493.1:c.575-1321G>T
NM_001408494.1:c.548-1321G>T
NM_001408495.1:c.545-1321G>T
NM_001408496.1:c.524-1321G>T
NM_001408497.1:c.524-1321G>T
NM_001408498.1:c.524-1321G>T
NM_001408499.1:c.524-1321G>T
NM_001408500.1:c.524-1321G>T
NM_001408501.1:c.524-1321G>T
NM_001408502.1:c.455-1321G>T
NM_001408503.1:c.521-1321G>T
NM_001408504.1:c.521-1321G>T
NM_001408505.1:c.521-1321G>T
NM_001408506.1:c.461-1321G>T
NM_001408507.1:c.461-1321G>T
NM_001408508.1:c.452-1321G>T
NM_001408509.1:c.452-1321G>T
NM_001408510.1:c.407-1321G>T
NM_001408511.1:c.404-1321G>T
NM_001408512.1:c.284-1321G>T
NM_001408513.1:c.578-1321G>T
NM_001408514.1:c.578-1321G>T
NM_007294.4:c.3178G>TMANE SELECT
NM_007297.4:c.3037G>T
NM_007298.4:c.788-1321G>T
NM_007299.4:c.788-1321G>T
NM_007300.4:c.3178G>T
NP_001394500.1:p.Glu989Ter
NP_001394510.1:p.Glu1060Ter
NP_001394511.1:p.Glu1060Ter
NP_001394512.1:p.Glu1060Ter
NP_001394514.1:p.Glu1060Ter
NP_001394516.1:p.Glu1059Ter
NP_001394519.1:p.Glu1059Ter
NP_001394520.1:p.Glu1059Ter
NP_001394522.1:p.Glu1060Ter
NP_001394523.1:p.Glu1060Ter
NP_001394525.1:p.Glu1060Ter
NP_001394526.1:p.Glu1060Ter
NP_001394527.1:p.Glu1060Ter
NP_001394531.1:p.Glu1060Ter
NP_001394532.1:p.Glu1060Ter
NP_001394534.1:p.Glu1060Ter
NP_001394539.1:p.Glu1059Ter
NP_001394540.1:p.Glu1059Ter
NP_001394541.1:p.Glu1059Ter
NP_001394542.1:p.Glu1059Ter
NP_001394543.1:p.Glu1059Ter
NP_001394544.1:p.Glu1059Ter
NP_001394545.1:p.Glu1060Ter
NP_001394546.1:p.Glu1060Ter
NP_001394547.1:p.Glu1060Ter
NP_001394548.1:p.Glu1060Ter
NP_001394549.1:p.Glu1060Ter
NP_001394550.1:p.Glu1060Ter
NP_001394551.1:p.Glu1060Ter
NP_001394552.1:p.Glu1060Ter
NP_001394553.1:p.Glu1060Ter
NP_001394554.1:p.Glu1060Ter
NP_001394555.1:p.Glu1060Ter
NP_001394556.1:p.Glu1059Ter
NP_001394557.1:p.Glu1059Ter
NP_001394558.1:p.Glu1059Ter
NP_001394559.1:p.Glu1059Ter
NP_001394560.1:p.Glu1059Ter
NP_001394561.1:p.Glu1059Ter
NP_001394562.1:p.Glu1059Ter
NP_001394563.1:p.Glu1059Ter
NP_001394564.1:p.Glu1059Ter
NP_001394565.1:p.Glu1059Ter
NP_001394566.1:p.Glu1059Ter
NP_001394567.1:p.Glu1059Ter
NP_001394568.1:p.Glu1060Ter
NP_001394569.1:p.Glu1060Ter
NP_001394570.1:p.Glu1060Ter
NP_001394571.1:p.Glu1060Ter
NP_001394573.1:p.Glu1059Ter
NP_001394574.1:p.Glu1059Ter
NP_001394575.1:p.Glu1057Ter
NP_001394576.1:p.Glu1057Ter
NP_001394577.1:p.Glu1019Ter
NP_001394578.1:p.Glu1018Ter
NP_001394581.1:p.Glu1060Ter
NP_001394582.1:p.Glu1034Ter
NP_001394583.1:p.Glu1034Ter
NP_001394584.1:p.Glu1034Ter
NP_001394585.1:p.Glu1034Ter
NP_001394586.1:p.Glu1034Ter
NP_001394587.1:p.Glu1034Ter
NP_001394588.1:p.Glu1033Ter
NP_001394589.1:p.Glu1033Ter
NP_001394590.1:p.Glu1033Ter
NP_001394591.1:p.Glu1033Ter
NP_001394592.1:p.Glu1034Ter
NP_001394593.1:p.Glu1019Ter
NP_001394594.1:p.Glu1019Ter
NP_001394595.1:p.Glu1019Ter
NP_001394596.1:p.Glu1019Ter
NP_001394597.1:p.Glu1019Ter
NP_001394598.1:p.Glu1019Ter
NP_001394599.1:p.Glu1018Ter
NP_001394600.1:p.Glu1018Ter
NP_001394601.1:p.Glu1018Ter
NP_001394602.1:p.Glu1018Ter
NP_001394603.1:p.Glu1019Ter
NP_001394604.1:p.Glu1019Ter
NP_001394605.1:p.Glu1019Ter
NP_001394606.1:p.Glu1019Ter
NP_001394607.1:p.Glu1019Ter
NP_001394608.1:p.Glu1019Ter
NP_001394609.1:p.Glu1019Ter
NP_001394610.1:p.Glu1019Ter
NP_001394611.1:p.Glu1019Ter
NP_001394612.1:p.Glu1019Ter
NP_001394613.1:p.Glu1060Ter
NP_001394614.1:p.Glu1018Ter
NP_001394615.1:p.Glu1018Ter
NP_001394616.1:p.Glu1018Ter
NP_001394617.1:p.Glu1018Ter
NP_001394618.1:p.Glu1018Ter
NP_001394619.1:p.Glu1018Ter
NP_001394620.1:p.Glu1018Ter
NP_001394621.1:p.Glu1013Ter
NP_001394623.1:p.Glu1013Ter
NP_001394624.1:p.Glu1013Ter
NP_001394625.1:p.Glu1013Ter
NP_001394626.1:p.Glu1013Ter
NP_001394627.1:p.Glu1013Ter
NP_001394653.1:p.Glu1013Ter
NP_001394654.1:p.Glu1013Ter
NP_001394655.1:p.Glu1013Ter
NP_001394656.1:p.Glu1013Ter
NP_001394657.1:p.Glu1013Ter
NP_001394658.1:p.Glu1013Ter
NP_001394659.1:p.Glu1013Ter
NP_001394660.1:p.Glu1013Ter
NP_001394661.1:p.Glu1013Ter
NP_001394662.1:p.Glu1013Ter
NP_001394663.1:p.Glu1013Ter
NP_001394664.1:p.Glu1013Ter
NP_001394665.1:p.Glu1013Ter
NP_001394666.1:p.Glu1013Ter
NP_001394667.1:p.Glu1013Ter
NP_001394668.1:p.Glu1013Ter
NP_001394669.1:p.Glu1012Ter
NP_001394670.1:p.Glu1012Ter
NP_001394671.1:p.Glu1012Ter
NP_001394672.1:p.Glu1012Ter
NP_001394673.1:p.Glu1012Ter
NP_001394674.1:p.Glu1012Ter
NP_001394675.1:p.Glu1012Ter
NP_001394676.1:p.Glu1012Ter
NP_001394677.1:p.Glu1012Ter
NP_001394678.1:p.Glu1012Ter
NP_001394679.1:p.Glu1013Ter
NP_001394680.1:p.Glu1013Ter
NP_001394681.1:p.Glu1013Ter
NP_001394767.1:p.Glu1012Ter
NP_001394768.1:p.Glu1012Ter
NP_001394770.1:p.Glu1012Ter
NP_001394771.1:p.Glu1012Ter
NP_001394772.1:p.Glu1012Ter
NP_001394773.1:p.Glu1012Ter
NP_001394774.1:p.Glu1012Ter
NP_001394775.1:p.Glu1012Ter
NP_001394776.1:p.Glu1012Ter
NP_001394777.1:p.Glu1012Ter
NP_001394778.1:p.Glu1012Ter
NP_001394779.1:p.Glu1013Ter
NP_001394780.1:p.Glu1013Ter
NP_001394781.1:p.Glu1013Ter
NP_001394782.1:p.Glu989Ter
NP_001394783.1:p.Glu1060Ter
NP_001394787.1:p.Glu1060Ter
NP_001394788.1:p.Glu1060Ter
NP_001394789.1:p.Glu1059Ter
NP_001394790.1:p.Glu1059Ter
NP_001394791.1:p.Glu993Ter
NP_001394792.1:p.Glu1019Ter
NP_001394803.1:p.Glu992Ter
NP_001394804.1:p.Glu992Ter
NP_001394808.1:p.Glu990Ter
NP_001394810.1:p.Glu990Ter
NP_001394811.1:p.Glu990Ter
NP_001394813.1:p.Glu990Ter
NP_001394814.1:p.Glu990Ter
NP_001394815.1:p.Glu990Ter
NP_001394816.1:p.Glu990Ter
NP_001394818.1:p.Glu990Ter
NP_001394823.1:p.Glu989Ter
NP_001394824.1:p.Glu989Ter
NP_001394825.1:p.Glu989Ter
NP_001394826.1:p.Glu989Ter
NP_001394827.1:p.Glu989Ter
NP_001394828.1:p.Glu989Ter
NP_001394829.1:p.Glu990Ter
NP_001394831.1:p.Glu990Ter
NP_001394833.1:p.Glu990Ter
NP_001394835.1:p.Glu990Ter
NP_001394836.1:p.Glu990Ter
NP_001394837.1:p.Glu990Ter
NP_001394838.1:p.Glu990Ter
NP_001394839.1:p.Glu990Ter
NP_001394844.1:p.Glu989Ter
NP_001394845.1:p.Glu989Ter
NP_001394846.1:p.Glu989Ter
NP_001394847.1:p.Glu989Ter
NP_001394848.1:p.Glu1019Ter
NP_001394849.1:p.Glu972Ter
NP_001394850.1:p.Glu972Ter
NP_001394851.1:p.Glu972Ter
NP_001394852.1:p.Glu972Ter
NP_001394853.1:p.Glu972Ter
NP_001394854.1:p.Glu972Ter
NP_001394855.1:p.Glu972Ter
NP_001394856.1:p.Glu972Ter
NP_001394857.1:p.Glu972Ter
NP_001394858.1:p.Glu972Ter
NP_001394859.1:p.Glu971Ter
NP_001394860.1:p.Glu971Ter
NP_001394861.1:p.Glu971Ter
NP_001394862.1:p.Glu972Ter
NP_001394863.1:p.Glu971Ter
NP_001394864.1:p.Glu972Ter
NP_001394865.1:p.Glu971Ter
NP_001394866.1:p.Glu1019Ter
NP_001394867.1:p.Glu1019Ter
NP_001394868.1:p.Glu1019Ter
NP_001394869.1:p.Glu1018Ter
NP_001394870.1:p.Glu1018Ter
NP_001394871.1:p.Glu1013Ter
NP_001394872.1:p.Glu1012Ter
NP_001394873.1:p.Glu1013Ter
NP_001394874.1:p.Glu1013Ter
NP_001394875.1:p.Glu949Ter
NP_001394876.1:p.Glu949Ter
NP_001394877.1:p.Glu949Ter
NP_001394878.1:p.Glu949Ter
NP_001394879.1:p.Glu949Ter
NP_001394880.1:p.Glu949Ter
NP_001394881.1:p.Glu949Ter
NP_001394882.1:p.Glu949Ter
NP_001394883.1:p.Glu948Ter
NP_001394884.1:p.Glu948Ter
NP_001394885.1:p.Glu948Ter
NP_001394886.1:p.Glu949Ter
NP_001394887.1:p.Glu948Ter
NP_001394888.1:p.Glu933Ter
NP_001394889.1:p.Glu933Ter
NP_001394891.1:p.Glu932Ter
NP_001394892.1:p.Glu933Ter
NP_001394893.1:p.Glu1012Ter
NP_001394894.1:p.Glu892Ter
NP_001394895.1:p.Glu764Ter
NP_001394896.1:p.Glu764Ter
NP_009225.1:p.Glu1060Ter
NP_009225.1:p.Glu1060Ter
NP_009228.2:p.Glu1013Ter
NP_009231.2:p.Glu1060Ter
LRG_292t1:c.3178G>T
LRG_292:g.125631G>T
LRG_292p1:p.Glu1060Ter
NC_000017.10:g.41244370C>A
NM_007294.3:c.3178G>T
NM_007297.3:c.3037G>T
NR_027676.1:n.3314G>T
U14680.1:n.3297G>T
p.Glu1060*

Protein change:

E1012*

Links:

dbSNP: rs80357424

NCBI 1000 Genomes Browser:

rs80357424

Molecular consequence:

NM_001407968.1:c.788-214G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.788-214G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.788-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.788-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.785-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.788-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.788-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.788-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.788-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.788-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.788-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.788-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.788-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.788-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.788-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.788-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.785-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.785-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.785-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.788-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.785-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.785-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.788-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.785-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.785-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.785-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.785-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.785-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.785-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.785-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.785-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.788-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.788-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.791-1330G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.785-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.779-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.710-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.647-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.710-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.710-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.707-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.710-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.710-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.707-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.671-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.671-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.671-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.668-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.671-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.671-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.668-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.665-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.665-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.665-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.665-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.665-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.665-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.668-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.662-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.662-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.662-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.662-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.665-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.665-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.665-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.665-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.665-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.665-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.665-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.665-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.665-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.662-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.662-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.662-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.662-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.662-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.653-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.647-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.647-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.647-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.647-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.647-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.647-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.647-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.647-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.647-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.647-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.644-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.644-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.644-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.644-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.647-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.647-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.644-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.647-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.644-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.788-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.785-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.587-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.584-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.587-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.578-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.578-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.578-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.578-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.578-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.578-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.578-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.578-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.578-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.575-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.575-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.578-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.575-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.524-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.524-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.524-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.524-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.524-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.524-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.455-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.521-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.521-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.521-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.461-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.461-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.452-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.452-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.407-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.284-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.578-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.578-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.788-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.788-1321G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407571.1:c.2965G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407581.1:c.3178G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407582.1:c.3178G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407583.1:c.3178G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407585.1:c.3178G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407587.1:c.3175G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407590.1:c.3175G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407591.1:c.3175G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407593.1:c.3178G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407594.1:c.3178G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407596.1:c.3178G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407597.1:c.3178G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407598.1:c.3178G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407602.1:c.3178G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407603.1:c.3178G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407605.1:c.3178G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407610.1:c.3175G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407611.1:c.3175G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407612.1:c.3175G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407613.1:c.3175G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407614.1:c.3175G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407615.1:c.3175G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407616.1:c.3178G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407617.1:c.3178G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407618.1:c.3178G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407619.1:c.3178G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407620.1:c.3178G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407621.1:c.3178G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407622.1:c.3178G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407623.1:c.3178G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407624.1:c.3178G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407625.1:c.3178G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407626.1:c.3178G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407627.1:c.3175G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407628.1:c.3175G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407629.1:c.3175G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407630.1:c.3175G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407631.1:c.3175G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407632.1:c.3175G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407633.1:c.3175G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407634.1:c.3175G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407635.1:c.3175G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407636.1:c.3175G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407637.1:c.3175G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407638.1:c.3175G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407639.1:c.3178G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407640.1:c.3178G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407641.1:c.3178G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407642.1:c.3178G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407644.1:c.3175G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407645.1:c.3175G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407646.1:c.3169G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407647.1:c.3169G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407648.1:c.3055G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407649.1:c.3052G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407652.1:c.3178G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407653.1:c.3100G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407654.1:c.3100G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407655.1:c.3100G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407656.1:c.3100G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407657.1:c.3100G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407658.1:c.3100G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407659.1:c.3097G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407660.1:c.3097G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407661.1:c.3097G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407662.1:c.3097G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407663.1:c.3100G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407664.1:c.3055G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407665.1:c.3055G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407666.1:c.3055G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407667.1:c.3055G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407668.1:c.3055G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407669.1:c.3055G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407670.1:c.3052G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407671.1:c.3052G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407672.1:c.3052G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407673.1:c.3052G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407674.1:c.3055G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407675.1:c.3055G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407676.1:c.3055G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407677.1:c.3055G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407678.1:c.3055G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407679.1:c.3055G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407680.1:c.3055G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407681.1:c.3055G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407682.1:c.3055G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407683.1:c.3055G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407684.1:c.3178G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407685.1:c.3052G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407686.1:c.3052G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407687.1:c.3052G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407688.1:c.3052G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407689.1:c.3052G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407690.1:c.3052G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407691.1:c.3052G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407692.1:c.3037G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407694.1:c.3037G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407695.1:c.3037G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407696.1:c.3037G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407697.1:c.3037G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407698.1:c.3037G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407724.1:c.3037G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407725.1:c.3037G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407726.1:c.3037G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407727.1:c.3037G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407728.1:c.3037G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407729.1:c.3037G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407730.1:c.3037G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407731.1:c.3037G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407732.1:c.3037G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407733.1:c.3037G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407734.1:c.3037G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407735.1:c.3037G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407736.1:c.3037G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407737.1:c.3037G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407738.1:c.3037G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407739.1:c.3037G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407740.1:c.3034G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407741.1:c.3034G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407742.1:c.3034G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407743.1:c.3034G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407744.1:c.3034G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407745.1:c.3034G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407746.1:c.3034G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407747.1:c.3034G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407748.1:c.3034G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407749.1:c.3034G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407750.1:c.3037G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407751.1:c.3037G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407752.1:c.3037G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407838.1:c.3034G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407839.1:c.3034G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407841.1:c.3034G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407842.1:c.3034G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407843.1:c.3034G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407844.1:c.3034G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407845.1:c.3034G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407846.1:c.3034G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407847.1:c.3034G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407848.1:c.3034G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407849.1:c.3034G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407850.1:c.3037G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407851.1:c.3037G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407852.1:c.3037G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407853.1:c.2965G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407854.1:c.3178G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407858.1:c.3178G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407859.1:c.3178G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407860.1:c.3175G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407861.1:c.3175G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407862.1:c.2977G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407863.1:c.3055G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407874.1:c.2974G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407875.1:c.2974G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407879.1:c.2968G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407881.1:c.2968G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407882.1:c.2968G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407884.1:c.2968G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407885.1:c.2968G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407886.1:c.2968G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407887.1:c.2968G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407889.1:c.2968G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407894.1:c.2965G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407895.1:c.2965G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407896.1:c.2965G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407897.1:c.2965G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407898.1:c.2965G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407899.1:c.2965G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407900.1:c.2968G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407902.1:c.2968G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407904.1:c.2968G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407906.1:c.2968G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407907.1:c.2968G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407908.1:c.2968G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407909.1:c.2968G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407910.1:c.2968G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407915.1:c.2965G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407916.1:c.2965G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407917.1:c.2965G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407918.1:c.2965G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407919.1:c.3055G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407920.1:c.2914G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407921.1:c.2914G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407922.1:c.2914G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407923.1:c.2914G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407924.1:c.2914G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407925.1:c.2914G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407926.1:c.2914G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407927.1:c.2914G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407928.1:c.2914G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407929.1:c.2914G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407930.1:c.2911G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407931.1:c.2911G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407932.1:c.2911G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407933.1:c.2914G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407934.1:c.2911G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407935.1:c.2914G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407936.1:c.2911G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407937.1:c.3055G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407938.1:c.3055G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407939.1:c.3055G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407940.1:c.3052G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407941.1:c.3052G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407942.1:c.3037G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407943.1:c.3034G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407944.1:c.3037G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407945.1:c.3037G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407946.1:c.2845G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407947.1:c.2845G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407948.1:c.2845G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407949.1:c.2845G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407950.1:c.2845G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407951.1:c.2845G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407952.1:c.2845G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407953.1:c.2845G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407954.1:c.2842G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407955.1:c.2842G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407956.1:c.2842G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407957.1:c.2845G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407958.1:c.2842G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407959.1:c.2797G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407960.1:c.2797G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407962.1:c.2794G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407963.1:c.2797G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407964.1:c.3034G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407965.1:c.2674G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407966.1:c.2290G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407967.1:c.2290G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_007294.4:c.3178G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_007297.4:c.3037G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_007300.4:c.3178G>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000210143	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Sep 14, 2020)	germline	clinical testing	Citation Link,
SCV000600319	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Pathogenic (Jun 1, 2017)	germline	clinical testing	PubMed (6) [See all records that cite these PMIDs] 9333265, 24010542, 26681312, 11504767, 24660075, 26467025
SCV001449635	Clinical Genetics and Genomics, Karolinska University Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Apr 13, 2016)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004238179	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Feb 24, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV005199732	Clinical Genetics Laboratory, Skane University Hospital Lund	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jan 4, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	10	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

BRCA1 sequence analysis in women at high risk for susceptibility mutations. Risk factor analysis and implications for genetic testing.

Shattuck-Eidens D, Oliphant A, McClure M, McBride C, Gupte J, Rubano T, Pruss D, Tavtigian SV, Teng DH, Adey N, Staebell M, Gumpper K, Lundstrom R, Hulick M, Kelly M, Holmen J, Lingenfelter B, Manley S, Fujimura F, Luce M, Ward B, Cannon-Albright L, et al.

JAMA. 1997 Oct 15;278(15):1242-50.

PubMed [citation]

PMID:: 9333265

High prevalence of BRCA1 founder mutations in Greek breast/ovarian families.

Konstantopoulou I, Tsitlaidou M, Fostira F, Pertesi M, Stavropoulou AV, Triantafyllidou O, Tsotra E, Tsiftsoglou AP, Tsionou C, Droufakou S, Dimitrakakis C, Fountzilas G, Yannoukakos D.

Clin Genet. 2014 Jan;85(1):36-42. doi: 10.1111/cge.12274. Epub 2013 Oct 20.

PubMed [citation]

PMID:: 24010542

See all PubMed Citations (7)

Details of each submission

From GeneDx, SCV000210143.12

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

Description

Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Also known as 3297G>T; Observed in individuals with a personal or family history consistent with pathogenic variants in this gene (Shattuck-Eidens 1997, Fostira 2014); This variant is associated with the following publications: (PMID: 22434525, 25525159, 9333265, 29339979, 29446198, 24010542, 26681312, 11504767, 17574839, 29371908, 31209999, 12481264, 24660075, 32719484)

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

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000600319.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (6)

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

From Clinical Genetics and Genomics, Karolinska University Hospital, SCV001449635.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	10	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		10	not provided	not provided	not provided

From Revvity Omics, Revvity, SCV004238179.1

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

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

From Clinical Genetics Laboratory, Skane University Hospital Lund, SCV005199732.1

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

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

Last Updated: Nov 3, 2024

ClinVar

Relating variation to medicine