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NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Feb 8, 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:
RCV000131878.20

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]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000186933Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(May 9, 2022) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link,

SCV000537660Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Feb 8, 2023) 		germlineclinical testing

PubMed (9)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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

Cross-sectional analysis of germline BRCA1 and BRCA2 mutations in Japanese patients suspected to have hereditary breast/ovarian cancer.

Sugano K, Nakamura S, Ando J, Takayama S, Kamata H, Sekiguchi I, Ubukata M, Kodama T, Arai M, Kasumi F, Hirai Y, Ikeda T, Jinno H, Kitajima M, Aoki D, Hirasawa A, Takeda Y, Yazaki K, Fukutomi T, Kinoshita T, Tsunematsu R, Yoshida T, et al.

Cancer Sci. 2008 Oct;99(10):1967-76. doi: 10.1111/j.1349-7006.2008.00944.x.

PubMed [citation]
PMID:
19016756
PMCID:
PMC11158907
See all PubMed Citations (10)

Details of each submission

From Ambry Genetics, SCV000186933.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

The p.E908* pathogenic mutation (also known as c.2722G>T), located in coding exon 9 of the BRCA1 gene, results from a G to T substitution at nucleotide position 2722. This changes the amino acid from a glutamic acid to a stop codon within coding exon 9. This mutation has been reported in multiple breast and ovarian cancer (HBOC) syndrome kindreds to date (Serova O et al. Am. J. Hum. Genet. 1996 Jan;58:42-51; Walsh T et al. Proc. Natl. Acad. Sci. USA. 2011 Nov;108:18032-7; Boukerroucha M et al. BMC Cancer. 2015 Mar;15:181; De Brakeleer S et al. Clin. Genet.. 2016 Mar;89:336-40; Singh J et al. Breast Cancer Res. Treat. 2018 Jul;170(1):189-196). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

From Color Diagnostics, LLC DBA Color Health, SCV000537660.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (9)

Description

This variant changes 1 nucleotide in exon 10 of the BRCA1 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in multiple individuals affected with breast cancer, ovarian cancer and glioblastoma (PMID: 19016756, 22006311, 25880076, 26010302, 29470806, 32380732, 33471991, 35625946). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.

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

Last Updated: Nov 24, 2024