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NM_007294.4(BRCA1):c.132C>G (p.Cys44Trp) AND Hereditary breast ovarian cancer syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 6, 2019
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000802596.9

Allele description [Variation Report for NM_007294.4(BRCA1):c.132C>G (p.Cys44Trp)]

NM_007294.4(BRCA1):c.132C>G (p.Cys44Trp)

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.132C>G (p.Cys44Trp)
HGVS:
  • NC_000017.11:g.43115728G>C
  • NG_005905.2:g.102256C>G
  • NM_001407571.1:c.-57C>G
  • NM_001407581.1:c.132C>G
  • NM_001407582.1:c.132C>G
  • NM_001407583.1:c.132C>G
  • NM_001407585.1:c.132C>G
  • NM_001407587.1:c.132C>G
  • NM_001407590.1:c.132C>G
  • NM_001407591.1:c.132C>G
  • NM_001407593.1:c.132C>G
  • NM_001407594.1:c.132C>G
  • NM_001407596.1:c.132C>G
  • NM_001407597.1:c.132C>G
  • NM_001407598.1:c.132C>G
  • NM_001407602.1:c.132C>G
  • NM_001407603.1:c.132C>G
  • NM_001407605.1:c.132C>G
  • NM_001407610.1:c.132C>G
  • NM_001407611.1:c.132C>G
  • NM_001407612.1:c.132C>G
  • NM_001407613.1:c.132C>G
  • NM_001407614.1:c.132C>G
  • NM_001407615.1:c.132C>G
  • NM_001407616.1:c.132C>G
  • NM_001407617.1:c.132C>G
  • NM_001407618.1:c.132C>G
  • NM_001407619.1:c.132C>G
  • NM_001407620.1:c.132C>G
  • NM_001407621.1:c.132C>G
  • NM_001407622.1:c.132C>G
  • NM_001407623.1:c.132C>G
  • NM_001407624.1:c.132C>G
  • NM_001407625.1:c.132C>G
  • NM_001407626.1:c.132C>G
  • NM_001407627.1:c.132C>G
  • NM_001407628.1:c.132C>G
  • NM_001407629.1:c.132C>G
  • NM_001407630.1:c.132C>G
  • NM_001407631.1:c.132C>G
  • NM_001407632.1:c.132C>G
  • NM_001407633.1:c.132C>G
  • NM_001407634.1:c.132C>G
  • NM_001407635.1:c.132C>G
  • NM_001407636.1:c.132C>G
  • NM_001407637.1:c.132C>G
  • NM_001407638.1:c.132C>G
  • NM_001407639.1:c.132C>G
  • NM_001407640.1:c.132C>G
  • NM_001407641.1:c.132C>G
  • NM_001407642.1:c.132C>G
  • NM_001407644.1:c.132C>G
  • NM_001407645.1:c.132C>G
  • NM_001407646.1:c.132C>G
  • NM_001407647.1:c.132C>G
  • NM_001407648.1:c.132C>G
  • NM_001407649.1:c.132C>G
  • NM_001407652.1:c.132C>G
  • NM_001407653.1:c.132C>G
  • NM_001407654.1:c.132C>G
  • NM_001407655.1:c.132C>G
  • NM_001407656.1:c.132C>G
  • NM_001407657.1:c.132C>G
  • NM_001407658.1:c.132C>G
  • NM_001407659.1:c.132C>G
  • NM_001407660.1:c.132C>G
  • NM_001407661.1:c.132C>G
  • NM_001407662.1:c.132C>G
  • NM_001407663.1:c.132C>G
  • NM_001407664.1:c.132C>G
  • NM_001407665.1:c.132C>G
  • NM_001407666.1:c.132C>G
  • NM_001407667.1:c.132C>G
  • NM_001407668.1:c.132C>G
  • NM_001407669.1:c.132C>G
  • NM_001407670.1:c.132C>G
  • NM_001407671.1:c.132C>G
  • NM_001407672.1:c.132C>G
  • NM_001407673.1:c.132C>G
  • NM_001407674.1:c.132C>G
  • NM_001407675.1:c.132C>G
  • NM_001407676.1:c.132C>G
  • NM_001407677.1:c.132C>G
  • NM_001407678.1:c.132C>G
  • NM_001407679.1:c.132C>G
  • NM_001407680.1:c.132C>G
  • NM_001407681.1:c.132C>G
  • NM_001407682.1:c.132C>G
  • NM_001407683.1:c.132C>G
  • NM_001407684.1:c.132C>G
  • NM_001407685.1:c.132C>G
  • NM_001407686.1:c.132C>G
  • NM_001407687.1:c.132C>G
  • NM_001407688.1:c.132C>G
  • NM_001407689.1:c.132C>G
  • NM_001407690.1:c.132C>G
  • NM_001407691.1:c.132C>G
  • NM_001407694.1:c.-126C>G
  • NM_001407695.1:c.-130C>G
  • NM_001407696.1:c.-126C>G
  • NM_001407697.1:c.-10C>G
  • NM_001407724.1:c.-126C>G
  • NM_001407725.1:c.-10C>G
  • NM_001407727.1:c.-126C>G
  • NM_001407728.1:c.-10C>G
  • NM_001407729.1:c.-10C>G
  • NM_001407730.1:c.-10C>G
  • NM_001407731.1:c.-126C>G
  • NM_001407733.1:c.-126C>G
  • NM_001407734.1:c.-10C>G
  • NM_001407735.1:c.-10C>G
  • NM_001407737.1:c.-10C>G
  • NM_001407739.1:c.-10C>G
  • NM_001407740.1:c.-10C>G
  • NM_001407741.1:c.-10C>G
  • NM_001407743.1:c.-10C>G
  • NM_001407745.1:c.-10C>G
  • NM_001407746.1:c.-126C>G
  • NM_001407748.1:c.-10C>G
  • NM_001407749.1:c.-126C>G
  • NM_001407752.1:c.-10C>G
  • NM_001407838.1:c.-10C>G
  • NM_001407839.1:c.-10C>G
  • NM_001407842.1:c.-126C>G
  • NM_001407843.1:c.-126C>G
  • NM_001407844.1:c.-10C>G
  • NM_001407846.1:c.-10C>G
  • NM_001407847.1:c.-10C>G
  • NM_001407848.1:c.-10C>G
  • NM_001407850.1:c.-10C>G
  • NM_001407851.1:c.-10C>G
  • NM_001407853.1:c.-57C>G
  • NM_001407854.1:c.132C>G
  • NM_001407858.1:c.132C>G
  • NM_001407859.1:c.132C>G
  • NM_001407860.1:c.132C>G
  • NM_001407861.1:c.132C>G
  • NM_001407862.1:c.132C>G
  • NM_001407863.1:c.132C>G
  • NM_001407874.1:c.132C>G
  • NM_001407875.1:c.132C>G
  • NM_001407879.1:c.-57C>G
  • NM_001407882.1:c.-57C>G
  • NM_001407884.1:c.-57C>G
  • NM_001407885.1:c.-57C>G
  • NM_001407886.1:c.-57C>G
  • NM_001407887.1:c.-57C>G
  • NM_001407889.1:c.-173C>G
  • NM_001407894.1:c.-57C>G
  • NM_001407895.1:c.-57C>G
  • NM_001407896.1:c.-57C>G
  • NM_001407897.1:c.-57C>G
  • NM_001407899.1:c.-57C>G
  • NM_001407900.1:c.-173C>G
  • NM_001407904.1:c.-57C>G
  • NM_001407906.1:c.-57C>G
  • NM_001407907.1:c.-57C>G
  • NM_001407908.1:c.-57C>G
  • NM_001407909.1:c.-57C>G
  • NM_001407910.1:c.-57C>G
  • NM_001407915.1:c.-57C>G
  • NM_001407916.1:c.-57C>G
  • NM_001407917.1:c.-57C>G
  • NM_001407918.1:c.-57C>G
  • NM_001407919.1:c.132C>G
  • NM_001407920.1:c.-10C>G
  • NM_001407921.1:c.-10C>G
  • NM_001407922.1:c.-10C>G
  • NM_001407923.1:c.-10C>G
  • NM_001407926.1:c.-10C>G
  • NM_001407927.1:c.-10C>G
  • NM_001407930.1:c.-126C>G
  • NM_001407933.1:c.-10C>G
  • NM_001407934.1:c.-10C>G
  • NM_001407935.1:c.-10C>G
  • NM_001407937.1:c.132C>G
  • NM_001407938.1:c.132C>G
  • NM_001407939.1:c.132C>G
  • NM_001407940.1:c.132C>G
  • NM_001407941.1:c.132C>G
  • NM_001407942.1:c.-126C>G
  • NM_001407943.1:c.-10C>G
  • NM_001407944.1:c.-10C>G
  • NM_001407946.1:c.-57C>G
  • NM_001407947.1:c.-57C>G
  • NM_001407948.1:c.-57C>G
  • NM_001407949.1:c.-57C>G
  • NM_001407950.1:c.-57C>G
  • NM_001407951.1:c.-57C>G
  • NM_001407952.1:c.-57C>G
  • NM_001407953.1:c.-57C>G
  • NM_001407954.1:c.-57C>G
  • NM_001407955.1:c.-57C>G
  • NM_001407956.1:c.-57C>G
  • NM_001407957.1:c.-57C>G
  • NM_001407958.1:c.-57C>G
  • NM_001407960.1:c.-172C>G
  • NM_001407962.1:c.-172C>G
  • NM_001407964.1:c.-10C>G
  • NM_001407965.1:c.-288C>G
  • NM_001407968.1:c.132C>G
  • NM_001407969.1:c.132C>G
  • NM_001407970.1:c.132C>G
  • NM_001407971.1:c.132C>G
  • NM_001407972.1:c.132C>G
  • NM_001407973.1:c.132C>G
  • NM_001407974.1:c.132C>G
  • NM_001407975.1:c.132C>G
  • NM_001407976.1:c.132C>G
  • NM_001407977.1:c.132C>G
  • NM_001407978.1:c.132C>G
  • NM_001407979.1:c.132C>G
  • NM_001407980.1:c.132C>G
  • NM_001407981.1:c.132C>G
  • NM_001407982.1:c.132C>G
  • NM_001407983.1:c.132C>G
  • NM_001407984.1:c.132C>G
  • NM_001407985.1:c.132C>G
  • NM_001407986.1:c.132C>G
  • NM_001407990.1:c.132C>G
  • NM_001407991.1:c.132C>G
  • NM_001407992.1:c.132C>G
  • NM_001407993.1:c.132C>G
  • NM_001408392.1:c.132C>G
  • NM_001408396.1:c.132C>G
  • NM_001408397.1:c.132C>G
  • NM_001408398.1:c.132C>G
  • NM_001408399.1:c.132C>G
  • NM_001408400.1:c.132C>G
  • NM_001408401.1:c.132C>G
  • NM_001408402.1:c.132C>G
  • NM_001408403.1:c.132C>G
  • NM_001408404.1:c.132C>G
  • NM_001408406.1:c.132C>G
  • NM_001408407.1:c.132C>G
  • NM_001408408.1:c.132C>G
  • NM_001408409.1:c.132C>G
  • NM_001408410.1:c.-10C>G
  • NM_001408411.1:c.132C>G
  • NM_001408412.1:c.132C>G
  • NM_001408413.1:c.132C>G
  • NM_001408414.1:c.132C>G
  • NM_001408415.1:c.132C>G
  • NM_001408416.1:c.132C>G
  • NM_001408418.1:c.132C>G
  • NM_001408419.1:c.132C>G
  • NM_001408420.1:c.132C>G
  • NM_001408421.1:c.132C>G
  • NM_001408422.1:c.132C>G
  • NM_001408423.1:c.132C>G
  • NM_001408424.1:c.132C>G
  • NM_001408425.1:c.132C>G
  • NM_001408426.1:c.132C>G
  • NM_001408427.1:c.132C>G
  • NM_001408428.1:c.132C>G
  • NM_001408429.1:c.132C>G
  • NM_001408430.1:c.132C>G
  • NM_001408431.1:c.132C>G
  • NM_001408432.1:c.132C>G
  • NM_001408433.1:c.132C>G
  • NM_001408434.1:c.132C>G
  • NM_001408435.1:c.132C>G
  • NM_001408436.1:c.132C>G
  • NM_001408437.1:c.132C>G
  • NM_001408438.1:c.132C>G
  • NM_001408439.1:c.132C>G
  • NM_001408440.1:c.132C>G
  • NM_001408441.1:c.132C>G
  • NM_001408442.1:c.132C>G
  • NM_001408443.1:c.132C>G
  • NM_001408444.1:c.132C>G
  • NM_001408445.1:c.132C>G
  • NM_001408446.1:c.132C>G
  • NM_001408447.1:c.132C>G
  • NM_001408448.1:c.132C>G
  • NM_001408450.1:c.132C>G
  • NM_001408452.1:c.-10C>G
  • NM_001408453.1:c.-10C>G
  • NM_001408455.1:c.-126C>G
  • NM_001408456.1:c.-126C>G
  • NM_001408458.1:c.-10C>G
  • NM_001408462.1:c.-10C>G
  • NM_001408463.1:c.-10C>G
  • NM_001408465.1:c.-130C>G
  • NM_001408466.1:c.-10C>G
  • NM_001408468.1:c.-126C>G
  • NM_001408469.1:c.-10C>G
  • NM_001408470.1:c.-10C>G
  • NM_001408472.1:c.132C>G
  • NM_001408473.1:c.132C>G
  • NM_001408474.1:c.132C>G
  • NM_001408475.1:c.132C>G
  • NM_001408476.1:c.132C>G
  • NM_001408478.1:c.-57C>G
  • NM_001408479.1:c.-57C>G
  • NM_001408480.1:c.-57C>G
  • NM_001408481.1:c.-57C>G
  • NM_001408482.1:c.-57C>G
  • NM_001408483.1:c.-57C>G
  • NM_001408484.1:c.-57C>G
  • NM_001408485.1:c.-57C>G
  • NM_001408489.1:c.-57C>G
  • NM_001408490.1:c.-57C>G
  • NM_001408491.1:c.-57C>G
  • NM_001408492.1:c.-173C>G
  • NM_001408493.1:c.-57C>G
  • NM_001408494.1:c.132C>G
  • NM_001408495.1:c.132C>G
  • NM_001408497.1:c.-10C>G
  • NM_001408499.1:c.-10C>G
  • NM_001408500.1:c.-10C>G
  • NM_001408501.1:c.-126C>G
  • NM_001408502.1:c.-57C>G
  • NM_001408503.1:c.-10C>G
  • NM_001408504.1:c.-10C>G
  • NM_001408505.1:c.-10C>G
  • NM_001408506.1:c.-57C>G
  • NM_001408507.1:c.-57C>G
  • NM_001408508.1:c.-57C>G
  • NM_001408509.1:c.-57C>G
  • NM_001408510.1:c.-172C>G
  • NM_001408512.1:c.-172C>G
  • NM_001408513.1:c.-57C>G
  • NM_001408514.1:c.-57C>G
  • NM_007294.4:c.132C>GMANE SELECT
  • NM_007297.4:c.-8+8289C>G
  • NM_007298.4:c.132C>G
  • NM_007299.4:c.132C>G
  • NM_007300.4:c.132C>G
  • NM_007304.2:c.132C>G
  • NP_001394510.1:p.Cys44Trp
  • NP_001394511.1:p.Cys44Trp
  • NP_001394512.1:p.Cys44Trp
  • NP_001394514.1:p.Cys44Trp
  • NP_001394516.1:p.Cys44Trp
  • NP_001394519.1:p.Cys44Trp
  • NP_001394520.1:p.Cys44Trp
  • NP_001394522.1:p.Cys44Trp
  • NP_001394523.1:p.Cys44Trp
  • NP_001394525.1:p.Cys44Trp
  • NP_001394526.1:p.Cys44Trp
  • NP_001394527.1:p.Cys44Trp
  • NP_001394531.1:p.Cys44Trp
  • NP_001394532.1:p.Cys44Trp
  • NP_001394534.1:p.Cys44Trp
  • NP_001394539.1:p.Cys44Trp
  • NP_001394540.1:p.Cys44Trp
  • NP_001394541.1:p.Cys44Trp
  • NP_001394542.1:p.Cys44Trp
  • NP_001394543.1:p.Cys44Trp
  • NP_001394544.1:p.Cys44Trp
  • NP_001394545.1:p.Cys44Trp
  • NP_001394546.1:p.Cys44Trp
  • NP_001394547.1:p.Cys44Trp
  • NP_001394548.1:p.Cys44Trp
  • NP_001394549.1:p.Cys44Trp
  • NP_001394550.1:p.Cys44Trp
  • NP_001394551.1:p.Cys44Trp
  • NP_001394552.1:p.Cys44Trp
  • NP_001394553.1:p.Cys44Trp
  • NP_001394554.1:p.Cys44Trp
  • NP_001394555.1:p.Cys44Trp
  • NP_001394556.1:p.Cys44Trp
  • NP_001394557.1:p.Cys44Trp
  • NP_001394558.1:p.Cys44Trp
  • NP_001394559.1:p.Cys44Trp
  • NP_001394560.1:p.Cys44Trp
  • NP_001394561.1:p.Cys44Trp
  • NP_001394562.1:p.Cys44Trp
  • NP_001394563.1:p.Cys44Trp
  • NP_001394564.1:p.Cys44Trp
  • NP_001394565.1:p.Cys44Trp
  • NP_001394566.1:p.Cys44Trp
  • NP_001394567.1:p.Cys44Trp
  • NP_001394568.1:p.Cys44Trp
  • NP_001394569.1:p.Cys44Trp
  • NP_001394570.1:p.Cys44Trp
  • NP_001394571.1:p.Cys44Trp
  • NP_001394573.1:p.Cys44Trp
  • NP_001394574.1:p.Cys44Trp
  • NP_001394575.1:p.Cys44Trp
  • NP_001394576.1:p.Cys44Trp
  • NP_001394577.1:p.Cys44Trp
  • NP_001394578.1:p.Cys44Trp
  • NP_001394581.1:p.Cys44Trp
  • NP_001394582.1:p.Cys44Trp
  • NP_001394583.1:p.Cys44Trp
  • NP_001394584.1:p.Cys44Trp
  • NP_001394585.1:p.Cys44Trp
  • NP_001394586.1:p.Cys44Trp
  • NP_001394587.1:p.Cys44Trp
  • NP_001394588.1:p.Cys44Trp
  • NP_001394589.1:p.Cys44Trp
  • NP_001394590.1:p.Cys44Trp
  • NP_001394591.1:p.Cys44Trp
  • NP_001394592.1:p.Cys44Trp
  • NP_001394593.1:p.Cys44Trp
  • NP_001394594.1:p.Cys44Trp
  • NP_001394595.1:p.Cys44Trp
  • NP_001394596.1:p.Cys44Trp
  • NP_001394597.1:p.Cys44Trp
  • NP_001394598.1:p.Cys44Trp
  • NP_001394599.1:p.Cys44Trp
  • NP_001394600.1:p.Cys44Trp
  • NP_001394601.1:p.Cys44Trp
  • NP_001394602.1:p.Cys44Trp
  • NP_001394603.1:p.Cys44Trp
  • NP_001394604.1:p.Cys44Trp
  • NP_001394605.1:p.Cys44Trp
  • NP_001394606.1:p.Cys44Trp
  • NP_001394607.1:p.Cys44Trp
  • NP_001394608.1:p.Cys44Trp
  • NP_001394609.1:p.Cys44Trp
  • NP_001394610.1:p.Cys44Trp
  • NP_001394611.1:p.Cys44Trp
  • NP_001394612.1:p.Cys44Trp
  • NP_001394613.1:p.Cys44Trp
  • NP_001394614.1:p.Cys44Trp
  • NP_001394615.1:p.Cys44Trp
  • NP_001394616.1:p.Cys44Trp
  • NP_001394617.1:p.Cys44Trp
  • NP_001394618.1:p.Cys44Trp
  • NP_001394619.1:p.Cys44Trp
  • NP_001394620.1:p.Cys44Trp
  • NP_001394783.1:p.Cys44Trp
  • NP_001394787.1:p.Cys44Trp
  • NP_001394788.1:p.Cys44Trp
  • NP_001394789.1:p.Cys44Trp
  • NP_001394790.1:p.Cys44Trp
  • NP_001394791.1:p.Cys44Trp
  • NP_001394792.1:p.Cys44Trp
  • NP_001394803.1:p.Cys44Trp
  • NP_001394804.1:p.Cys44Trp
  • NP_001394848.1:p.Cys44Trp
  • NP_001394866.1:p.Cys44Trp
  • NP_001394867.1:p.Cys44Trp
  • NP_001394868.1:p.Cys44Trp
  • NP_001394869.1:p.Cys44Trp
  • NP_001394870.1:p.Cys44Trp
  • NP_001394897.1:p.Cys44Trp
  • NP_001394898.1:p.Cys44Trp
  • NP_001394899.1:p.Cys44Trp
  • NP_001394900.1:p.Cys44Trp
  • NP_001394901.1:p.Cys44Trp
  • NP_001394902.1:p.Cys44Trp
  • NP_001394903.1:p.Cys44Trp
  • NP_001394904.1:p.Cys44Trp
  • NP_001394905.1:p.Cys44Trp
  • NP_001394906.1:p.Cys44Trp
  • NP_001394907.1:p.Cys44Trp
  • NP_001394908.1:p.Cys44Trp
  • NP_001394909.1:p.Cys44Trp
  • NP_001394910.1:p.Cys44Trp
  • NP_001394911.1:p.Cys44Trp
  • NP_001394912.1:p.Cys44Trp
  • NP_001394913.1:p.Cys44Trp
  • NP_001394914.1:p.Cys44Trp
  • NP_001394915.1:p.Cys44Trp
  • NP_001394919.1:p.Cys44Trp
  • NP_001394920.1:p.Cys44Trp
  • NP_001394921.1:p.Cys44Trp
  • NP_001394922.1:p.Cys44Trp
  • NP_001395321.1:p.Cys44Trp
  • NP_001395325.1:p.Cys44Trp
  • NP_001395326.1:p.Cys44Trp
  • NP_001395327.1:p.Cys44Trp
  • NP_001395328.1:p.Cys44Trp
  • NP_001395329.1:p.Cys44Trp
  • NP_001395330.1:p.Cys44Trp
  • NP_001395331.1:p.Cys44Trp
  • NP_001395332.1:p.Cys44Trp
  • NP_001395333.1:p.Cys44Trp
  • NP_001395335.1:p.Cys44Trp
  • NP_001395336.1:p.Cys44Trp
  • NP_001395337.1:p.Cys44Trp
  • NP_001395338.1:p.Cys44Trp
  • NP_001395340.1:p.Cys44Trp
  • NP_001395341.1:p.Cys44Trp
  • NP_001395342.1:p.Cys44Trp
  • NP_001395343.1:p.Cys44Trp
  • NP_001395344.1:p.Cys44Trp
  • NP_001395345.1:p.Cys44Trp
  • NP_001395347.1:p.Cys44Trp
  • NP_001395348.1:p.Cys44Trp
  • NP_001395349.1:p.Cys44Trp
  • NP_001395350.1:p.Cys44Trp
  • NP_001395351.1:p.Cys44Trp
  • NP_001395352.1:p.Cys44Trp
  • NP_001395353.1:p.Cys44Trp
  • NP_001395354.1:p.Cys44Trp
  • NP_001395355.1:p.Cys44Trp
  • NP_001395356.1:p.Cys44Trp
  • NP_001395357.1:p.Cys44Trp
  • NP_001395358.1:p.Cys44Trp
  • NP_001395359.1:p.Cys44Trp
  • NP_001395360.1:p.Cys44Trp
  • NP_001395361.1:p.Cys44Trp
  • NP_001395362.1:p.Cys44Trp
  • NP_001395363.1:p.Cys44Trp
  • NP_001395364.1:p.Cys44Trp
  • NP_001395365.1:p.Cys44Trp
  • NP_001395366.1:p.Cys44Trp
  • NP_001395367.1:p.Cys44Trp
  • NP_001395368.1:p.Cys44Trp
  • NP_001395369.1:p.Cys44Trp
  • NP_001395370.1:p.Cys44Trp
  • NP_001395371.1:p.Cys44Trp
  • NP_001395372.1:p.Cys44Trp
  • NP_001395373.1:p.Cys44Trp
  • NP_001395374.1:p.Cys44Trp
  • NP_001395375.1:p.Cys44Trp
  • NP_001395376.1:p.Cys44Trp
  • NP_001395377.1:p.Cys44Trp
  • NP_001395379.1:p.Cys44Trp
  • NP_001395401.1:p.Cys44Trp
  • NP_001395402.1:p.Cys44Trp
  • NP_001395403.1:p.Cys44Trp
  • NP_001395404.1:p.Cys44Trp
  • NP_001395405.1:p.Cys44Trp
  • NP_001395423.1:p.Cys44Trp
  • NP_001395424.1:p.Cys44Trp
  • NP_009225.1:p.Cys44Trp
  • NP_009225.1:p.Cys44Trp
  • NP_009229.2:p.Cys44Trp
  • NP_009229.2:p.Cys44Trp
  • NP_009230.2:p.Cys44Trp
  • NP_009231.2:p.Cys44Trp
  • NP_009235.2:p.Cys44Trp
  • LRG_292t1:c.132C>G
  • LRG_292:g.102256C>G
  • LRG_292p1:p.Cys44Trp
  • NC_000017.10:g.41267745G>C
  • NM_007294.3:c.132C>G
  • NM_007298.3:c.132C>G
  • NR_027676.2:n.334C>G
Protein change:
C44W
Links:
dbSNP: rs876658362
NCBI 1000 Genomes Browser:
rs876658362
Molecular consequence:
  • NM_007297.4:c.-8+8289C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407581.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408472.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408473.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.334C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Functional consequence:
functionally_abnormal [Sequence Ontology: SO:0002218] - Comment(s)

Condition(s)

Name:
Hereditary breast ovarian cancer syndrome
Synonyms:
Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000942433Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Likely pathogenic
(Mar 6, 2019) 		germlineclinical testing

PubMed (11)
[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

Characterization of BRCA1 ring finger variants of uncertain significance.

Sweet K, Senter L, Pilarski R, Wei L, Toland AE.

Breast Cancer Res Treat. 2010 Feb;119(3):737-43. doi: 10.1007/s10549-009-0438-6. Epub 2009 Jun 20.

PubMed [citation]
PMID:
19543972
PMCID:
PMC4283813

Germline Analysis from Tumor-Germline Sequencing Dyads to Identify Clinically Actionable Secondary Findings.

Seifert BA, O'Daniel JM, Amin K, Marchuk DS, Patel NM, Parker JS, Hoyle AP, Mose LE, Marron A, Hayward MC, Bizon C, Wilhelmsen KC, Evans JP, Earp HS 3rd, Sharpless NE, Hayes DN, Berg JS.

Clin Cancer Res. 2016 Aug 15;22(16):4087-4094. doi: 10.1158/1078-0432.CCR-16-0015. Epub 2016 Apr 15.

PubMed [citation]
PMID:
27083775
PMCID:
PMC4987173
See all PubMed Citations (11)

Details of each submission

From Invitae, SCV000942433.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (11)

Description

This variant disrupts the p.Cys44 amino acid residue in BRCA1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 19543972, 27083775, 21922593, 25823446, 23633455, 18159056, 25777348, 16267036, 30209399). This suggests that this residue is clinically-significant, and that variants that disrupt this residue are likely to be disease-causing. This variant has not been reported in the literature in individuals with BRCA1-related disease. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant affects the highly conserved Cys44 residue within the N-terminal RING domain of the BRCA1 protein (PMID: 22843421). This variant has been reported to affect BRCA1 protein function (PMID: 30209399). This variant is not present in population databases (ExAC no frequency). This sequence change replaces cysteine with tryptophan at codon 44 of the BRCA1 protein (p.Cys44Trp). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tryptophan.

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

Last Updated: Jul 15, 2024