NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter) AND not provided

Germline classification:: Pathogenic (8 submissions)
Last evaluated:: Jul 13, 2022
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:: RCV000074576.39

Allele description [Variation Report for NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter)]

NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter)

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.2722G>T (p.Glu908Ter)

Other names:

p.E908*:GAA>TAA

HGVS:

NC_000017.11:g.43092809C>A
NG_005905.2:g.125175G>T
NM_001407571.1:c.2509G>T
NM_001407581.1:c.2722G>T
NM_001407582.1:c.2722G>T
NM_001407583.1:c.2722G>T
NM_001407585.1:c.2722G>T
NM_001407587.1:c.2719G>T
NM_001407590.1:c.2719G>T
NM_001407591.1:c.2719G>T
NM_001407593.1:c.2722G>T
NM_001407594.1:c.2722G>T
NM_001407596.1:c.2722G>T
NM_001407597.1:c.2722G>T
NM_001407598.1:c.2722G>T
NM_001407602.1:c.2722G>T
NM_001407603.1:c.2722G>T
NM_001407605.1:c.2722G>T
NM_001407610.1:c.2719G>T
NM_001407611.1:c.2719G>T
NM_001407612.1:c.2719G>T
NM_001407613.1:c.2719G>T
NM_001407614.1:c.2719G>T
NM_001407615.1:c.2719G>T
NM_001407616.1:c.2722G>T
NM_001407617.1:c.2722G>T
NM_001407618.1:c.2722G>T
NM_001407619.1:c.2722G>T
NM_001407620.1:c.2722G>T
NM_001407621.1:c.2722G>T
NM_001407622.1:c.2722G>T
NM_001407623.1:c.2722G>T
NM_001407624.1:c.2722G>T
NM_001407625.1:c.2722G>T
NM_001407626.1:c.2722G>T
NM_001407627.1:c.2719G>T
NM_001407628.1:c.2719G>T
NM_001407629.1:c.2719G>T
NM_001407630.1:c.2719G>T
NM_001407631.1:c.2719G>T
NM_001407632.1:c.2719G>T
NM_001407633.1:c.2719G>T
NM_001407634.1:c.2719G>T
NM_001407635.1:c.2719G>T
NM_001407636.1:c.2719G>T
NM_001407637.1:c.2719G>T
NM_001407638.1:c.2719G>T
NM_001407639.1:c.2722G>T
NM_001407640.1:c.2722G>T
NM_001407641.1:c.2722G>T
NM_001407642.1:c.2722G>T
NM_001407644.1:c.2719G>T
NM_001407645.1:c.2719G>T
NM_001407646.1:c.2713G>T
NM_001407647.1:c.2713G>T
NM_001407648.1:c.2599G>T
NM_001407649.1:c.2596G>T
NM_001407652.1:c.2722G>T
NM_001407653.1:c.2644G>T
NM_001407654.1:c.2644G>T
NM_001407655.1:c.2644G>T
NM_001407656.1:c.2644G>T
NM_001407657.1:c.2644G>T
NM_001407658.1:c.2644G>T
NM_001407659.1:c.2641G>T
NM_001407660.1:c.2641G>T
NM_001407661.1:c.2641G>T
NM_001407662.1:c.2641G>T
NM_001407663.1:c.2644G>T
NM_001407664.1:c.2599G>T
NM_001407665.1:c.2599G>T
NM_001407666.1:c.2599G>T
NM_001407667.1:c.2599G>T
NM_001407668.1:c.2599G>T
NM_001407669.1:c.2599G>T
NM_001407670.1:c.2596G>T
NM_001407671.1:c.2596G>T
NM_001407672.1:c.2596G>T
NM_001407673.1:c.2596G>T
NM_001407674.1:c.2599G>T
NM_001407675.1:c.2599G>T
NM_001407676.1:c.2599G>T
NM_001407677.1:c.2599G>T
NM_001407678.1:c.2599G>T
NM_001407679.1:c.2599G>T
NM_001407680.1:c.2599G>T
NM_001407681.1:c.2599G>T
NM_001407682.1:c.2599G>T
NM_001407683.1:c.2599G>T
NM_001407684.1:c.2722G>T
NM_001407685.1:c.2596G>T
NM_001407686.1:c.2596G>T
NM_001407687.1:c.2596G>T
NM_001407688.1:c.2596G>T
NM_001407689.1:c.2596G>T
NM_001407690.1:c.2596G>T
NM_001407691.1:c.2596G>T
NM_001407692.1:c.2581G>T
NM_001407694.1:c.2581G>T
NM_001407695.1:c.2581G>T
NM_001407696.1:c.2581G>T
NM_001407697.1:c.2581G>T
NM_001407698.1:c.2581G>T
NM_001407724.1:c.2581G>T
NM_001407725.1:c.2581G>T
NM_001407726.1:c.2581G>T
NM_001407727.1:c.2581G>T
NM_001407728.1:c.2581G>T
NM_001407729.1:c.2581G>T
NM_001407730.1:c.2581G>T
NM_001407731.1:c.2581G>T
NM_001407732.1:c.2581G>T
NM_001407733.1:c.2581G>T
NM_001407734.1:c.2581G>T
NM_001407735.1:c.2581G>T
NM_001407736.1:c.2581G>T
NM_001407737.1:c.2581G>T
NM_001407738.1:c.2581G>T
NM_001407739.1:c.2581G>T
NM_001407740.1:c.2578G>T
NM_001407741.1:c.2578G>T
NM_001407742.1:c.2578G>T
NM_001407743.1:c.2578G>T
NM_001407744.1:c.2578G>T
NM_001407745.1:c.2578G>T
NM_001407746.1:c.2578G>T
NM_001407747.1:c.2578G>T
NM_001407748.1:c.2578G>T
NM_001407749.1:c.2578G>T
NM_001407750.1:c.2581G>T
NM_001407751.1:c.2581G>T
NM_001407752.1:c.2581G>T
NM_001407838.1:c.2578G>T
NM_001407839.1:c.2578G>T
NM_001407841.1:c.2578G>T
NM_001407842.1:c.2578G>T
NM_001407843.1:c.2578G>T
NM_001407844.1:c.2578G>T
NM_001407845.1:c.2578G>T
NM_001407846.1:c.2578G>T
NM_001407847.1:c.2578G>T
NM_001407848.1:c.2578G>T
NM_001407849.1:c.2578G>T
NM_001407850.1:c.2581G>T
NM_001407851.1:c.2581G>T
NM_001407852.1:c.2581G>T
NM_001407853.1:c.2509G>T
NM_001407854.1:c.2722G>T
NM_001407858.1:c.2722G>T
NM_001407859.1:c.2722G>T
NM_001407860.1:c.2719G>T
NM_001407861.1:c.2719G>T
NM_001407862.1:c.2521G>T
NM_001407863.1:c.2599G>T
NM_001407874.1:c.2518G>T
NM_001407875.1:c.2518G>T
NM_001407879.1:c.2512G>T
NM_001407881.1:c.2512G>T
NM_001407882.1:c.2512G>T
NM_001407884.1:c.2512G>T
NM_001407885.1:c.2512G>T
NM_001407886.1:c.2512G>T
NM_001407887.1:c.2512G>T
NM_001407889.1:c.2512G>T
NM_001407894.1:c.2509G>T
NM_001407895.1:c.2509G>T
NM_001407896.1:c.2509G>T
NM_001407897.1:c.2509G>T
NM_001407898.1:c.2509G>T
NM_001407899.1:c.2509G>T
NM_001407900.1:c.2512G>T
NM_001407902.1:c.2512G>T
NM_001407904.1:c.2512G>T
NM_001407906.1:c.2512G>T
NM_001407907.1:c.2512G>T
NM_001407908.1:c.2512G>T
NM_001407909.1:c.2512G>T
NM_001407910.1:c.2512G>T
NM_001407915.1:c.2509G>T
NM_001407916.1:c.2509G>T
NM_001407917.1:c.2509G>T
NM_001407918.1:c.2509G>T
NM_001407919.1:c.2599G>T
NM_001407920.1:c.2458G>T
NM_001407921.1:c.2458G>T
NM_001407922.1:c.2458G>T
NM_001407923.1:c.2458G>T
NM_001407924.1:c.2458G>T
NM_001407925.1:c.2458G>T
NM_001407926.1:c.2458G>T
NM_001407927.1:c.2458G>T
NM_001407928.1:c.2458G>T
NM_001407929.1:c.2458G>T
NM_001407930.1:c.2455G>T
NM_001407931.1:c.2455G>T
NM_001407932.1:c.2455G>T
NM_001407933.1:c.2458G>T
NM_001407934.1:c.2455G>T
NM_001407935.1:c.2458G>T
NM_001407936.1:c.2455G>T
NM_001407937.1:c.2599G>T
NM_001407938.1:c.2599G>T
NM_001407939.1:c.2599G>T
NM_001407940.1:c.2596G>T
NM_001407941.1:c.2596G>T
NM_001407942.1:c.2581G>T
NM_001407943.1:c.2578G>T
NM_001407944.1:c.2581G>T
NM_001407945.1:c.2581G>T
NM_001407946.1:c.2389G>T
NM_001407947.1:c.2389G>T
NM_001407948.1:c.2389G>T
NM_001407949.1:c.2389G>T
NM_001407950.1:c.2389G>T
NM_001407951.1:c.2389G>T
NM_001407952.1:c.2389G>T
NM_001407953.1:c.2389G>T
NM_001407954.1:c.2386G>T
NM_001407955.1:c.2386G>T
NM_001407956.1:c.2386G>T
NM_001407957.1:c.2389G>T
NM_001407958.1:c.2386G>T
NM_001407959.1:c.2341G>T
NM_001407960.1:c.2341G>T
NM_001407962.1:c.2338G>T
NM_001407963.1:c.2341G>T
NM_001407964.1:c.2578G>T
NM_001407965.1:c.2218G>T
NM_001407966.1:c.1834G>T
NM_001407967.1:c.1834G>T
NM_001407968.1:c.788-670G>T
NM_001407969.1:c.788-670G>T
NM_001407970.1:c.788-1777G>T
NM_001407971.1:c.788-1777G>T
NM_001407972.1:c.785-1777G>T
NM_001407973.1:c.788-1777G>T
NM_001407974.1:c.788-1777G>T
NM_001407975.1:c.788-1777G>T
NM_001407976.1:c.788-1777G>T
NM_001407977.1:c.788-1777G>T
NM_001407978.1:c.788-1777G>T
NM_001407979.1:c.788-1777G>T
NM_001407980.1:c.788-1777G>T
NM_001407981.1:c.788-1777G>T
NM_001407982.1:c.788-1777G>T
NM_001407983.1:c.788-1777G>T
NM_001407984.1:c.785-1777G>T
NM_001407985.1:c.785-1777G>T
NM_001407986.1:c.785-1777G>T
NM_001407990.1:c.788-1777G>T
NM_001407991.1:c.785-1777G>T
NM_001407992.1:c.785-1777G>T
NM_001407993.1:c.788-1777G>T
NM_001408392.1:c.785-1777G>T
NM_001408396.1:c.785-1777G>T
NM_001408397.1:c.785-1777G>T
NM_001408398.1:c.785-1777G>T
NM_001408399.1:c.785-1777G>T
NM_001408400.1:c.785-1777G>T
NM_001408401.1:c.785-1777G>T
NM_001408402.1:c.785-1777G>T
NM_001408403.1:c.788-1777G>T
NM_001408404.1:c.788-1777G>T
NM_001408406.1:c.791-1786G>T
NM_001408407.1:c.785-1777G>T
NM_001408408.1:c.779-1777G>T
NM_001408409.1:c.710-1777G>T
NM_001408410.1:c.647-1777G>T
NM_001408411.1:c.710-1777G>T
NM_001408412.1:c.710-1777G>T
NM_001408413.1:c.707-1777G>T
NM_001408414.1:c.710-1777G>T
NM_001408415.1:c.710-1777G>T
NM_001408416.1:c.707-1777G>T
NM_001408418.1:c.671-1777G>T
NM_001408419.1:c.671-1777G>T
NM_001408420.1:c.671-1777G>T
NM_001408421.1:c.668-1777G>T
NM_001408422.1:c.671-1777G>T
NM_001408423.1:c.671-1777G>T
NM_001408424.1:c.668-1777G>T
NM_001408425.1:c.665-1777G>T
NM_001408426.1:c.665-1777G>T
NM_001408427.1:c.665-1777G>T
NM_001408428.1:c.665-1777G>T
NM_001408429.1:c.665-1777G>T
NM_001408430.1:c.665-1777G>T
NM_001408431.1:c.668-1777G>T
NM_001408432.1:c.662-1777G>T
NM_001408433.1:c.662-1777G>T
NM_001408434.1:c.662-1777G>T
NM_001408435.1:c.662-1777G>T
NM_001408436.1:c.665-1777G>T
NM_001408437.1:c.665-1777G>T
NM_001408438.1:c.665-1777G>T
NM_001408439.1:c.665-1777G>T
NM_001408440.1:c.665-1777G>T
NM_001408441.1:c.665-1777G>T
NM_001408442.1:c.665-1777G>T
NM_001408443.1:c.665-1777G>T
NM_001408444.1:c.665-1777G>T
NM_001408445.1:c.662-1777G>T
NM_001408446.1:c.662-1777G>T
NM_001408447.1:c.662-1777G>T
NM_001408448.1:c.662-1777G>T
NM_001408450.1:c.662-1777G>T
NM_001408451.1:c.653-1777G>T
NM_001408452.1:c.647-1777G>T
NM_001408453.1:c.647-1777G>T
NM_001408454.1:c.647-1777G>T
NM_001408455.1:c.647-1777G>T
NM_001408456.1:c.647-1777G>T
NM_001408457.1:c.647-1777G>T
NM_001408458.1:c.647-1777G>T
NM_001408459.1:c.647-1777G>T
NM_001408460.1:c.647-1777G>T
NM_001408461.1:c.647-1777G>T
NM_001408462.1:c.644-1777G>T
NM_001408463.1:c.644-1777G>T
NM_001408464.1:c.644-1777G>T
NM_001408465.1:c.644-1777G>T
NM_001408466.1:c.647-1777G>T
NM_001408467.1:c.647-1777G>T
NM_001408468.1:c.644-1777G>T
NM_001408469.1:c.647-1777G>T
NM_001408470.1:c.644-1777G>T
NM_001408472.1:c.788-1777G>T
NM_001408473.1:c.785-1777G>T
NM_001408474.1:c.587-1777G>T
NM_001408475.1:c.584-1777G>T
NM_001408476.1:c.587-1777G>T
NM_001408478.1:c.578-1777G>T
NM_001408479.1:c.578-1777G>T
NM_001408480.1:c.578-1777G>T
NM_001408481.1:c.578-1777G>T
NM_001408482.1:c.578-1777G>T
NM_001408483.1:c.578-1777G>T
NM_001408484.1:c.578-1777G>T
NM_001408485.1:c.578-1777G>T
NM_001408489.1:c.578-1777G>T
NM_001408490.1:c.575-1777G>T
NM_001408491.1:c.575-1777G>T
NM_001408492.1:c.578-1777G>T
NM_001408493.1:c.575-1777G>T
NM_001408494.1:c.548-1777G>T
NM_001408495.1:c.545-1777G>T
NM_001408496.1:c.524-1777G>T
NM_001408497.1:c.524-1777G>T
NM_001408498.1:c.524-1777G>T
NM_001408499.1:c.524-1777G>T
NM_001408500.1:c.524-1777G>T
NM_001408501.1:c.524-1777G>T
NM_001408502.1:c.455-1777G>T
NM_001408503.1:c.521-1777G>T
NM_001408504.1:c.521-1777G>T
NM_001408505.1:c.521-1777G>T
NM_001408506.1:c.461-1777G>T
NM_001408507.1:c.461-1777G>T
NM_001408508.1:c.452-1777G>T
NM_001408509.1:c.452-1777G>T
NM_001408510.1:c.407-1777G>T
NM_001408511.1:c.404-1777G>T
NM_001408512.1:c.284-1777G>T
NM_001408513.1:c.578-1777G>T
NM_001408514.1:c.578-1777G>T
NM_007294.4:c.2722G>TMANE SELECT
NM_007297.4:c.2581G>T
NM_007298.4:c.788-1777G>T
NM_007299.4:c.788-1777G>T
NM_007300.4:c.2722G>T
NP_001394500.1:p.Glu837Ter
NP_001394510.1:p.Glu908Ter
NP_001394511.1:p.Glu908Ter
NP_001394512.1:p.Glu908Ter
NP_001394514.1:p.Glu908Ter
NP_001394516.1:p.Glu907Ter
NP_001394519.1:p.Glu907Ter
NP_001394520.1:p.Glu907Ter
NP_001394522.1:p.Glu908Ter
NP_001394523.1:p.Glu908Ter
NP_001394525.1:p.Glu908Ter
NP_001394526.1:p.Glu908Ter
NP_001394527.1:p.Glu908Ter
NP_001394531.1:p.Glu908Ter
NP_001394532.1:p.Glu908Ter
NP_001394534.1:p.Glu908Ter
NP_001394539.1:p.Glu907Ter
NP_001394540.1:p.Glu907Ter
NP_001394541.1:p.Glu907Ter
NP_001394542.1:p.Glu907Ter
NP_001394543.1:p.Glu907Ter
NP_001394544.1:p.Glu907Ter
NP_001394545.1:p.Glu908Ter
NP_001394546.1:p.Glu908Ter
NP_001394547.1:p.Glu908Ter
NP_001394548.1:p.Glu908Ter
NP_001394549.1:p.Glu908Ter
NP_001394550.1:p.Glu908Ter
NP_001394551.1:p.Glu908Ter
NP_001394552.1:p.Glu908Ter
NP_001394553.1:p.Glu908Ter
NP_001394554.1:p.Glu908Ter
NP_001394555.1:p.Glu908Ter
NP_001394556.1:p.Glu907Ter
NP_001394557.1:p.Glu907Ter
NP_001394558.1:p.Glu907Ter
NP_001394559.1:p.Glu907Ter
NP_001394560.1:p.Glu907Ter
NP_001394561.1:p.Glu907Ter
NP_001394562.1:p.Glu907Ter
NP_001394563.1:p.Glu907Ter
NP_001394564.1:p.Glu907Ter
NP_001394565.1:p.Glu907Ter
NP_001394566.1:p.Glu907Ter
NP_001394567.1:p.Glu907Ter
NP_001394568.1:p.Glu908Ter
NP_001394569.1:p.Glu908Ter
NP_001394570.1:p.Glu908Ter
NP_001394571.1:p.Glu908Ter
NP_001394573.1:p.Glu907Ter
NP_001394574.1:p.Glu907Ter
NP_001394575.1:p.Glu905Ter
NP_001394576.1:p.Glu905Ter
NP_001394577.1:p.Glu867Ter
NP_001394578.1:p.Glu866Ter
NP_001394581.1:p.Glu908Ter
NP_001394582.1:p.Glu882Ter
NP_001394583.1:p.Glu882Ter
NP_001394584.1:p.Glu882Ter
NP_001394585.1:p.Glu882Ter
NP_001394586.1:p.Glu882Ter
NP_001394587.1:p.Glu882Ter
NP_001394588.1:p.Glu881Ter
NP_001394589.1:p.Glu881Ter
NP_001394590.1:p.Glu881Ter
NP_001394591.1:p.Glu881Ter
NP_001394592.1:p.Glu882Ter
NP_001394593.1:p.Glu867Ter
NP_001394594.1:p.Glu867Ter
NP_001394595.1:p.Glu867Ter
NP_001394596.1:p.Glu867Ter
NP_001394597.1:p.Glu867Ter
NP_001394598.1:p.Glu867Ter
NP_001394599.1:p.Glu866Ter
NP_001394600.1:p.Glu866Ter
NP_001394601.1:p.Glu866Ter
NP_001394602.1:p.Glu866Ter
NP_001394603.1:p.Glu867Ter
NP_001394604.1:p.Glu867Ter
NP_001394605.1:p.Glu867Ter
NP_001394606.1:p.Glu867Ter
NP_001394607.1:p.Glu867Ter
NP_001394608.1:p.Glu867Ter
NP_001394609.1:p.Glu867Ter
NP_001394610.1:p.Glu867Ter
NP_001394611.1:p.Glu867Ter
NP_001394612.1:p.Glu867Ter
NP_001394613.1:p.Glu908Ter
NP_001394614.1:p.Glu866Ter
NP_001394615.1:p.Glu866Ter
NP_001394616.1:p.Glu866Ter
NP_001394617.1:p.Glu866Ter
NP_001394618.1:p.Glu866Ter
NP_001394619.1:p.Glu866Ter
NP_001394620.1:p.Glu866Ter
NP_001394621.1:p.Glu861Ter
NP_001394623.1:p.Glu861Ter
NP_001394624.1:p.Glu861Ter
NP_001394625.1:p.Glu861Ter
NP_001394626.1:p.Glu861Ter
NP_001394627.1:p.Glu861Ter
NP_001394653.1:p.Glu861Ter
NP_001394654.1:p.Glu861Ter
NP_001394655.1:p.Glu861Ter
NP_001394656.1:p.Glu861Ter
NP_001394657.1:p.Glu861Ter
NP_001394658.1:p.Glu861Ter
NP_001394659.1:p.Glu861Ter
NP_001394660.1:p.Glu861Ter
NP_001394661.1:p.Glu861Ter
NP_001394662.1:p.Glu861Ter
NP_001394663.1:p.Glu861Ter
NP_001394664.1:p.Glu861Ter
NP_001394665.1:p.Glu861Ter
NP_001394666.1:p.Glu861Ter
NP_001394667.1:p.Glu861Ter
NP_001394668.1:p.Glu861Ter
NP_001394669.1:p.Glu860Ter
NP_001394670.1:p.Glu860Ter
NP_001394671.1:p.Glu860Ter
NP_001394672.1:p.Glu860Ter
NP_001394673.1:p.Glu860Ter
NP_001394674.1:p.Glu860Ter
NP_001394675.1:p.Glu860Ter
NP_001394676.1:p.Glu860Ter
NP_001394677.1:p.Glu860Ter
NP_001394678.1:p.Glu860Ter
NP_001394679.1:p.Glu861Ter
NP_001394680.1:p.Glu861Ter
NP_001394681.1:p.Glu861Ter
NP_001394767.1:p.Glu860Ter
NP_001394768.1:p.Glu860Ter
NP_001394770.1:p.Glu860Ter
NP_001394771.1:p.Glu860Ter
NP_001394772.1:p.Glu860Ter
NP_001394773.1:p.Glu860Ter
NP_001394774.1:p.Glu860Ter
NP_001394775.1:p.Glu860Ter
NP_001394776.1:p.Glu860Ter
NP_001394777.1:p.Glu860Ter
NP_001394778.1:p.Glu860Ter
NP_001394779.1:p.Glu861Ter
NP_001394780.1:p.Glu861Ter
NP_001394781.1:p.Glu861Ter
NP_001394782.1:p.Glu837Ter
NP_001394783.1:p.Glu908Ter
NP_001394787.1:p.Glu908Ter
NP_001394788.1:p.Glu908Ter
NP_001394789.1:p.Glu907Ter
NP_001394790.1:p.Glu907Ter
NP_001394791.1:p.Glu841Ter
NP_001394792.1:p.Glu867Ter
NP_001394803.1:p.Glu840Ter
NP_001394804.1:p.Glu840Ter
NP_001394808.1:p.Glu838Ter
NP_001394810.1:p.Glu838Ter
NP_001394811.1:p.Glu838Ter
NP_001394813.1:p.Glu838Ter
NP_001394814.1:p.Glu838Ter
NP_001394815.1:p.Glu838Ter
NP_001394816.1:p.Glu838Ter
NP_001394818.1:p.Glu838Ter
NP_001394823.1:p.Glu837Ter
NP_001394824.1:p.Glu837Ter
NP_001394825.1:p.Glu837Ter
NP_001394826.1:p.Glu837Ter
NP_001394827.1:p.Glu837Ter
NP_001394828.1:p.Glu837Ter
NP_001394829.1:p.Glu838Ter
NP_001394831.1:p.Glu838Ter
NP_001394833.1:p.Glu838Ter
NP_001394835.1:p.Glu838Ter
NP_001394836.1:p.Glu838Ter
NP_001394837.1:p.Glu838Ter
NP_001394838.1:p.Glu838Ter
NP_001394839.1:p.Glu838Ter
NP_001394844.1:p.Glu837Ter
NP_001394845.1:p.Glu837Ter
NP_001394846.1:p.Glu837Ter
NP_001394847.1:p.Glu837Ter
NP_001394848.1:p.Glu867Ter
NP_001394849.1:p.Glu820Ter
NP_001394850.1:p.Glu820Ter
NP_001394851.1:p.Glu820Ter
NP_001394852.1:p.Glu820Ter
NP_001394853.1:p.Glu820Ter
NP_001394854.1:p.Glu820Ter
NP_001394855.1:p.Glu820Ter
NP_001394856.1:p.Glu820Ter
NP_001394857.1:p.Glu820Ter
NP_001394858.1:p.Glu820Ter
NP_001394859.1:p.Glu819Ter
NP_001394860.1:p.Glu819Ter
NP_001394861.1:p.Glu819Ter
NP_001394862.1:p.Glu820Ter
NP_001394863.1:p.Glu819Ter
NP_001394864.1:p.Glu820Ter
NP_001394865.1:p.Glu819Ter
NP_001394866.1:p.Glu867Ter
NP_001394867.1:p.Glu867Ter
NP_001394868.1:p.Glu867Ter
NP_001394869.1:p.Glu866Ter
NP_001394870.1:p.Glu866Ter
NP_001394871.1:p.Glu861Ter
NP_001394872.1:p.Glu860Ter
NP_001394873.1:p.Glu861Ter
NP_001394874.1:p.Glu861Ter
NP_001394875.1:p.Glu797Ter
NP_001394876.1:p.Glu797Ter
NP_001394877.1:p.Glu797Ter
NP_001394878.1:p.Glu797Ter
NP_001394879.1:p.Glu797Ter
NP_001394880.1:p.Glu797Ter
NP_001394881.1:p.Glu797Ter
NP_001394882.1:p.Glu797Ter
NP_001394883.1:p.Glu796Ter
NP_001394884.1:p.Glu796Ter
NP_001394885.1:p.Glu796Ter
NP_001394886.1:p.Glu797Ter
NP_001394887.1:p.Glu796Ter
NP_001394888.1:p.Glu781Ter
NP_001394889.1:p.Glu781Ter
NP_001394891.1:p.Glu780Ter
NP_001394892.1:p.Glu781Ter
NP_001394893.1:p.Glu860Ter
NP_001394894.1:p.Glu740Ter
NP_001394895.1:p.Glu612Ter
NP_001394896.1:p.Glu612Ter
NP_009225.1:p.Glu908Ter
NP_009225.1:p.Glu908Ter
NP_009228.2:p.Glu861Ter
NP_009231.2:p.Glu908Ter
LRG_292t1:c.2722G>T
LRG_292:g.125175G>T
LRG_292p1:p.Glu908Ter
NC_000017.10:g.41244826C>A
NM_007294.2:c.2722G>T
NM_007294.3:c.2722G>T
NM_007294.4:c.2722G>T
NM_007300.3:c.2722G>T
NR_027676.1:n.2858G>T
U14680.1:n.2841G>T
p.E908*
p.Glu908*
p.Glu908X

Nucleotide change:

2841G>T

Protein change:

E612*

Links:

dbSNP: rs80356978

NCBI 1000 Genomes Browser:

rs80356978

Molecular consequence:

NM_001407968.1:c.788-670G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.788-670G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.788-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.788-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.785-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.788-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.788-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.788-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.788-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.788-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.788-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.788-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.788-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.788-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.788-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.788-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.785-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.785-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.785-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.788-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.785-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.785-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.788-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.785-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.785-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.785-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.785-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.785-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.785-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.785-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.785-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.788-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.788-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.791-1786G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.785-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.779-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.710-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.647-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.710-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.710-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.707-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.710-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.710-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.707-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.671-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.671-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.671-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.668-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.671-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.671-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.668-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.665-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.665-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.665-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.665-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.665-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.665-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.668-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.662-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.662-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.662-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.662-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.665-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.665-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.665-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.665-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.665-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.665-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.665-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.665-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.665-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.662-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.662-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.662-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.662-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.662-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.653-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.647-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.647-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.647-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.647-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.647-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.647-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.647-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.647-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.647-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.647-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.644-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.644-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.644-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.644-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.647-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.647-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.644-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.647-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.644-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.788-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.785-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.587-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.584-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.587-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.578-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.578-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.578-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.578-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.578-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.578-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.578-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.578-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.578-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.575-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.575-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.578-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.575-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.524-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.524-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.524-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.524-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.524-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.524-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.455-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.521-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.521-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.521-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.461-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.461-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.452-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.452-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.407-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.284-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.578-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.578-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.788-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.788-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407571.1:c.2509G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407581.1:c.2722G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407582.1:c.2722G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407583.1:c.2722G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407585.1:c.2722G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407587.1:c.2719G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407590.1:c.2719G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407591.1:c.2719G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407593.1:c.2722G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407594.1:c.2722G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407596.1:c.2722G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407597.1:c.2722G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407598.1:c.2722G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407602.1:c.2722G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407603.1:c.2722G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407605.1:c.2722G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407610.1:c.2719G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407611.1:c.2719G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407612.1:c.2719G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407613.1:c.2719G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407614.1:c.2719G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407615.1:c.2719G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407616.1:c.2722G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407617.1:c.2722G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407618.1:c.2722G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407619.1:c.2722G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407620.1:c.2722G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407621.1:c.2722G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407622.1:c.2722G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407623.1:c.2722G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407624.1:c.2722G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407625.1:c.2722G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407626.1:c.2722G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407627.1:c.2719G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407628.1:c.2719G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407629.1:c.2719G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407630.1:c.2719G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407631.1:c.2719G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407632.1:c.2719G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407633.1:c.2719G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407634.1:c.2719G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407635.1:c.2719G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407636.1:c.2719G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407637.1:c.2719G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407638.1:c.2719G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407639.1:c.2722G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407640.1:c.2722G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407641.1:c.2722G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407642.1:c.2722G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407644.1:c.2719G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407645.1:c.2719G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407646.1:c.2713G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407647.1:c.2713G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407648.1:c.2599G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407649.1:c.2596G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407652.1:c.2722G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407653.1:c.2644G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407654.1:c.2644G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407655.1:c.2644G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407656.1:c.2644G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407657.1:c.2644G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407658.1:c.2644G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407659.1:c.2641G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407660.1:c.2641G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407661.1:c.2641G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407662.1:c.2641G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407663.1:c.2644G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407664.1:c.2599G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407665.1:c.2599G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407666.1:c.2599G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407667.1:c.2599G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407668.1:c.2599G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407669.1:c.2599G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407670.1:c.2596G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407671.1:c.2596G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407672.1:c.2596G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407673.1:c.2596G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407674.1:c.2599G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407675.1:c.2599G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407676.1:c.2599G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407677.1:c.2599G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407678.1:c.2599G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407679.1:c.2599G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407680.1:c.2599G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407681.1:c.2599G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407682.1:c.2599G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407683.1:c.2599G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407684.1:c.2722G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407685.1:c.2596G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407686.1:c.2596G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407687.1:c.2596G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407688.1:c.2596G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407689.1:c.2596G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407690.1:c.2596G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407691.1:c.2596G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407692.1:c.2581G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407694.1:c.2581G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407695.1:c.2581G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407696.1:c.2581G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407697.1:c.2581G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407698.1:c.2581G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407724.1:c.2581G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407725.1:c.2581G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407726.1:c.2581G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407727.1:c.2581G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407728.1:c.2581G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407729.1:c.2581G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407730.1:c.2581G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407731.1:c.2581G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407732.1:c.2581G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407733.1:c.2581G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407734.1:c.2581G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407735.1:c.2581G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407736.1:c.2581G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407737.1:c.2581G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407738.1:c.2581G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407739.1:c.2581G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407740.1:c.2578G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407741.1:c.2578G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407742.1:c.2578G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407743.1:c.2578G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407744.1:c.2578G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407745.1:c.2578G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407746.1:c.2578G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407747.1:c.2578G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407748.1:c.2578G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407749.1:c.2578G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407750.1:c.2581G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407751.1:c.2581G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407752.1:c.2581G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407838.1:c.2578G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407839.1:c.2578G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407841.1:c.2578G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407842.1:c.2578G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407843.1:c.2578G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407844.1:c.2578G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407845.1:c.2578G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407846.1:c.2578G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407847.1:c.2578G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407848.1:c.2578G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407849.1:c.2578G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407850.1:c.2581G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407851.1:c.2581G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407852.1:c.2581G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407853.1:c.2509G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407854.1:c.2722G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407858.1:c.2722G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407859.1:c.2722G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407860.1:c.2719G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407861.1:c.2719G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407862.1:c.2521G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407863.1:c.2599G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407874.1:c.2518G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407875.1:c.2518G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407879.1:c.2512G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407881.1:c.2512G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407882.1:c.2512G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407884.1:c.2512G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407885.1:c.2512G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407886.1:c.2512G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407887.1:c.2512G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407889.1:c.2512G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407894.1:c.2509G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407895.1:c.2509G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407896.1:c.2509G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407897.1:c.2509G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407898.1:c.2509G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407899.1:c.2509G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407900.1:c.2512G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407902.1:c.2512G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407904.1:c.2512G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407906.1:c.2512G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407907.1:c.2512G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407908.1:c.2512G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407909.1:c.2512G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407910.1:c.2512G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407915.1:c.2509G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407916.1:c.2509G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407917.1:c.2509G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407918.1:c.2509G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407919.1:c.2599G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407920.1:c.2458G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407921.1:c.2458G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407922.1:c.2458G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407923.1:c.2458G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407924.1:c.2458G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407925.1:c.2458G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407926.1:c.2458G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407927.1:c.2458G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407928.1:c.2458G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407929.1:c.2458G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407930.1:c.2455G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407931.1:c.2455G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407932.1:c.2455G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407933.1:c.2458G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407934.1:c.2455G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407935.1:c.2458G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407936.1:c.2455G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407937.1:c.2599G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407938.1:c.2599G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407939.1:c.2599G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407940.1:c.2596G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407941.1:c.2596G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407942.1:c.2581G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407943.1:c.2578G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407944.1:c.2581G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407945.1:c.2581G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407946.1:c.2389G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407947.1:c.2389G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407948.1:c.2389G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407949.1:c.2389G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407950.1:c.2389G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407951.1:c.2389G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407952.1:c.2389G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407953.1:c.2389G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407954.1:c.2386G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407955.1:c.2386G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407956.1:c.2386G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407957.1:c.2389G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407958.1:c.2386G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407959.1:c.2341G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407960.1:c.2341G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407962.1:c.2338G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407963.1:c.2341G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407964.1:c.2578G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407965.1:c.2218G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407966.1:c.1834G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407967.1:c.1834G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_007294.4:c.2722G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_007297.4:c.2581G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_007300.4:c.2722G>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000108661	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Aug 25, 2020)	germline	clinical testing	Citation Link,
SCV000296333	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Pathogenic (Apr 13, 2021)	unknown	clinical testing	PubMed (14) [See all records that cite these PMIDs] 29907814, 29470806, 26010302, 32380732, 8554067, 25452441, 20104584, 16683254, 11597388, 24055113, 12393792, 12068003, 26467025, 26295337
SCV000296768	GeneKor MSA	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jan 1, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000591407	Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR) See additional submitters Franklin by Genoox	no assertion criteria provided	Uncertain significance	unknown	clinical testing
SCV001448152	Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Oct 23, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001956036	Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Pathogenic	germline	clinical testing
SCV002017862	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jul 13, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002563415	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Pathogenic (Dec 1, 2018)	germline	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
not provided	germline	yes	1	not provided	not provided	1	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	yes	0	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

The germline mutational landscape of BRCA1 and BRCA2 in Brazil.

Palmero EI, Carraro DM, Alemar B, Moreira MAM, Ribeiro-Dos-Santos Â, Abe-Sandes K, Galvão HCR, Reis RM, de Pádua Souza C, Campacci N, Achatz MI, Brianese RC, da Cruz Formiga MN, Makdissi FB, Vargas FR, Evangelista Dos Santos AC, Seuanez HN, Lobo de Souza KR, Netto CBO, Santos-Silva P, da Silva GS, Burbano RMR, et al.

Sci Rep. 2018 Jun 15;8(1):9188. doi: 10.1038/s41598-018-27315-2.

PubMed [citation]

PMID:: 29907814
PMCID:: PMC6003960

Screening of over 1000 Indian patients with breast and/or ovarian cancer with a multi-gene panel: prevalence of BRCA1/2 and non-BRCA mutations.

Singh J, Thota N, Singh S, Padhi S, Mohan P, Deshwal S, Sur S, Ghosh M, Agarwal A, Sarin R, Ahmed R, Almel S, Chakraborti B, Raina V, DadiReddy PK, Smruti BK, Rajappa S, Dodagoudar C, Aggarwal S, Singhal M, Joshi A, Kumar R, et al.

Breast Cancer Res Treat. 2018 Jul;170(1):189-196. doi: 10.1007/s10549-018-4726-x. Epub 2018 Feb 22.

PubMed [citation]

PMID:: 29470806

See all PubMed Citations (15)

Details of each submission

From GeneDx, SCV000108661.14

#	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; Observed in individuals with a personal or family history consistent with pathogenic variants in this gene (Serova 1996, Sugano 2008, Boukerroucha 2015, Conroy 2017); Not observed in large population cohorts (gnomAD); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Also known as 2841G>T; This variant is associated with the following publications: (PMID: 26010302, 25722380, 28152038, 22006311, 8554067, 22009639, 24055113, 25880076, 25637381, 10553024, 9150151, 19016756, 25452441, 18465347, 16615107, 20104584, 19949876, 14574155, 9465809, 16528604, 9667259, 12393792, 25504618, 24549055, 27767231, 28959512, 29907814, 29470806, 28724667, 30702160, 29446198, 28176296, 25525159, 31825140, 31742824, 11597388)

#	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, SCV000296333.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (14)

Description

This nonsense variant causes the premature termination of BRCA1 protein synthesis. This variant has been reported in the published literature in individuals and families affected with breast/ovarian cancer (PMIDs: 12393792 (2002), 12068003 (2002), 29470806 (2018), 29907814 (2018), 32380732 (2020)). This variant has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Based on the available information, this variant is classified as pathogenic.

#	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

From GeneKor MSA, SCV000296768.3

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

Description

This is a single base substitution, replacing the Glutamate at position 908 of the BRCA1 protein by a Termination codon. It is expected to result in an absent or disrupted protein product. Truncating variants in BRCA1 are known to be pathogenic. The mutation database ClinVar contains entries for this variant (Variation ID: 54657).

#	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 Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV000591407.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	0	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	yes	not provided	not provided	not provided		0	not provided	not provided	not provided

From Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, SCV001448152.1

#	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	1	not provided	not provided		not provided	not provided	not provided	not provided

From Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus, SCV001956036.1

#	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	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Revvity Omics, Revvity, SCV002017862.3

#	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 CeGaT Center for Human Genetics Tuebingen, SCV002563415.11

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	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	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Jun 2, 2024

Relating variation to medicine