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NM_007294.4(BRCA1):c.4272G>C (p.Gln1424His) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 13, 2011
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000077144.4

Allele description [Variation Report for NM_007294.4(BRCA1):c.4272G>C (p.Gln1424His)]

NM_007294.4(BRCA1):c.4272G>C (p.Gln1424His)

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.4272G>C (p.Gln1424His)
HGVS:
  • NC_000017.11:g.43082489C>G
  • NG_005905.2:g.135495G>C
  • NM_001407571.1:c.4059G>C
  • NM_001407581.1:c.4272G>C
  • NM_001407582.1:c.4272G>C
  • NM_001407583.1:c.4272G>C
  • NM_001407585.1:c.4272G>C
  • NM_001407587.1:c.4269G>C
  • NM_001407590.1:c.4269G>C
  • NM_001407591.1:c.4269G>C
  • NM_001407593.1:c.4272G>C
  • NM_001407594.1:c.4272G>C
  • NM_001407596.1:c.4272G>C
  • NM_001407597.1:c.4272G>C
  • NM_001407598.1:c.4272G>C
  • NM_001407602.1:c.4272G>C
  • NM_001407603.1:c.4272G>C
  • NM_001407605.1:c.4272G>C
  • NM_001407610.1:c.4269G>C
  • NM_001407611.1:c.4269G>C
  • NM_001407612.1:c.4269G>C
  • NM_001407613.1:c.4269G>C
  • NM_001407614.1:c.4269G>C
  • NM_001407615.1:c.4269G>C
  • NM_001407616.1:c.4272G>C
  • NM_001407617.1:c.4272G>C
  • NM_001407618.1:c.4272G>C
  • NM_001407619.1:c.4272G>C
  • NM_001407620.1:c.4272G>C
  • NM_001407621.1:c.4272G>C
  • NM_001407622.1:c.4272G>C
  • NM_001407623.1:c.4272G>C
  • NM_001407624.1:c.4269G>C
  • NM_001407625.1:c.4269G>C
  • NM_001407626.1:c.4269G>C
  • NM_001407627.1:c.4266G>C
  • NM_001407628.1:c.4266G>C
  • NM_001407629.1:c.4266G>C
  • NM_001407630.1:c.4266G>C
  • NM_001407631.1:c.4266G>C
  • NM_001407632.1:c.4266G>C
  • NM_001407633.1:c.4269G>C
  • NM_001407634.1:c.4269G>C
  • NM_001407635.1:c.4269G>C
  • NM_001407636.1:c.4269G>C
  • NM_001407637.1:c.4269G>C
  • NM_001407638.1:c.4269G>C
  • NM_001407639.1:c.4269G>C
  • NM_001407640.1:c.4269G>C
  • NM_001407641.1:c.4269G>C
  • NM_001407642.1:c.4269G>C
  • NM_001407644.1:c.4266G>C
  • NM_001407645.1:c.4266G>C
  • NM_001407646.1:c.4260G>C
  • NM_001407647.1:c.4260G>C
  • NM_001407648.1:c.4149G>C
  • NM_001407649.1:c.4146G>C
  • NM_001407652.1:c.4272G>C
  • NM_001407653.1:c.4194G>C
  • NM_001407654.1:c.4194G>C
  • NM_001407655.1:c.4194G>C
  • NM_001407656.1:c.4191G>C
  • NM_001407657.1:c.4194G>C
  • NM_001407658.1:c.4194G>C
  • NM_001407659.1:c.4188G>C
  • NM_001407660.1:c.4188G>C
  • NM_001407661.1:c.4191G>C
  • NM_001407662.1:c.4191G>C
  • NM_001407663.1:c.4191G>C
  • NM_001407664.1:c.4149G>C
  • NM_001407665.1:c.4149G>C
  • NM_001407666.1:c.4149G>C
  • NM_001407667.1:c.4149G>C
  • NM_001407668.1:c.4149G>C
  • NM_001407669.1:c.4149G>C
  • NM_001407670.1:c.4146G>C
  • NM_001407671.1:c.4146G>C
  • NM_001407672.1:c.4146G>C
  • NM_001407673.1:c.4146G>C
  • NM_001407674.1:c.4146G>C
  • NM_001407675.1:c.4146G>C
  • NM_001407676.1:c.4146G>C
  • NM_001407677.1:c.4149G>C
  • NM_001407678.1:c.4149G>C
  • NM_001407679.1:c.4149G>C
  • NM_001407680.1:c.4149G>C
  • NM_001407681.1:c.4146G>C
  • NM_001407682.1:c.4146G>C
  • NM_001407683.1:c.4146G>C
  • NM_001407684.1:c.4272G>C
  • NM_001407685.1:c.4143G>C
  • NM_001407686.1:c.4143G>C
  • NM_001407687.1:c.4143G>C
  • NM_001407688.1:c.4146G>C
  • NM_001407689.1:c.4146G>C
  • NM_001407690.1:c.4143G>C
  • NM_001407691.1:c.4143G>C
  • NM_001407692.1:c.4131G>C
  • NM_001407694.1:c.4131G>C
  • NM_001407695.1:c.4131G>C
  • NM_001407696.1:c.4131G>C
  • NM_001407697.1:c.4131G>C
  • NM_001407698.1:c.4131G>C
  • NM_001407724.1:c.4131G>C
  • NM_001407725.1:c.4131G>C
  • NM_001407726.1:c.4131G>C
  • NM_001407727.1:c.4131G>C
  • NM_001407728.1:c.4131G>C
  • NM_001407729.1:c.4131G>C
  • NM_001407730.1:c.4131G>C
  • NM_001407731.1:c.4131G>C
  • NM_001407732.1:c.4131G>C
  • NM_001407733.1:c.4131G>C
  • NM_001407734.1:c.4131G>C
  • NM_001407735.1:c.4131G>C
  • NM_001407736.1:c.4131G>C
  • NM_001407737.1:c.4131G>C
  • NM_001407738.1:c.4131G>C
  • NM_001407739.1:c.4131G>C
  • NM_001407740.1:c.4128G>C
  • NM_001407741.1:c.4128G>C
  • NM_001407742.1:c.4128G>C
  • NM_001407743.1:c.4128G>C
  • NM_001407744.1:c.4128G>C
  • NM_001407745.1:c.4128G>C
  • NM_001407746.1:c.4128G>C
  • NM_001407747.1:c.4128G>C
  • NM_001407748.1:c.4128G>C
  • NM_001407749.1:c.4128G>C
  • NM_001407750.1:c.4128G>C
  • NM_001407751.1:c.4128G>C
  • NM_001407752.1:c.4128G>C
  • NM_001407838.1:c.4128G>C
  • NM_001407839.1:c.4128G>C
  • NM_001407841.1:c.4128G>C
  • NM_001407842.1:c.4128G>C
  • NM_001407843.1:c.4128G>C
  • NM_001407844.1:c.4128G>C
  • NM_001407845.1:c.4128G>C
  • NM_001407846.1:c.4128G>C
  • NM_001407847.1:c.4125G>C
  • NM_001407848.1:c.4125G>C
  • NM_001407849.1:c.4125G>C
  • NM_001407850.1:c.4128G>C
  • NM_001407851.1:c.4128G>C
  • NM_001407852.1:c.4128G>C
  • NM_001407853.1:c.4059G>C
  • NM_001407854.1:c.4272G>C
  • NM_001407858.1:c.4272G>C
  • NM_001407859.1:c.4272G>C
  • NM_001407860.1:c.4269G>C
  • NM_001407861.1:c.4269G>C
  • NM_001407862.1:c.4071G>C
  • NM_001407863.1:c.4149G>C
  • NM_001407874.1:c.4068G>C
  • NM_001407875.1:c.4068G>C
  • NM_001407879.1:c.4062G>C
  • NM_001407881.1:c.4062G>C
  • NM_001407882.1:c.4062G>C
  • NM_001407884.1:c.4062G>C
  • NM_001407885.1:c.4062G>C
  • NM_001407886.1:c.4062G>C
  • NM_001407887.1:c.4062G>C
  • NM_001407889.1:c.4062G>C
  • NM_001407894.1:c.4059G>C
  • NM_001407895.1:c.4059G>C
  • NM_001407896.1:c.4059G>C
  • NM_001407897.1:c.4059G>C
  • NM_001407898.1:c.4059G>C
  • NM_001407899.1:c.4059G>C
  • NM_001407900.1:c.4062G>C
  • NM_001407902.1:c.4062G>C
  • NM_001407904.1:c.4062G>C
  • NM_001407906.1:c.4062G>C
  • NM_001407907.1:c.4059G>C
  • NM_001407908.1:c.4059G>C
  • NM_001407909.1:c.4059G>C
  • NM_001407910.1:c.4059G>C
  • NM_001407915.1:c.4056G>C
  • NM_001407916.1:c.4059G>C
  • NM_001407917.1:c.4059G>C
  • NM_001407918.1:c.4059G>C
  • NM_001407919.1:c.4149G>C
  • NM_001407920.1:c.4008G>C
  • NM_001407921.1:c.4008G>C
  • NM_001407922.1:c.4008G>C
  • NM_001407923.1:c.4008G>C
  • NM_001407924.1:c.4008G>C
  • NM_001407925.1:c.4008G>C
  • NM_001407926.1:c.4008G>C
  • NM_001407927.1:c.4008G>C
  • NM_001407928.1:c.4008G>C
  • NM_001407929.1:c.4008G>C
  • NM_001407930.1:c.4005G>C
  • NM_001407931.1:c.4005G>C
  • NM_001407932.1:c.4005G>C
  • NM_001407933.1:c.4005G>C
  • NM_001407934.1:c.4002G>C
  • NM_001407935.1:c.4005G>C
  • NM_001407936.1:c.4005G>C
  • NM_001407937.1:c.4149G>C
  • NM_001407938.1:c.4149G>C
  • NM_001407939.1:c.4149G>C
  • NM_001407940.1:c.4146G>C
  • NM_001407941.1:c.4146G>C
  • NM_001407942.1:c.4131G>C
  • NM_001407943.1:c.4128G>C
  • NM_001407944.1:c.4131G>C
  • NM_001407945.1:c.4131G>C
  • NM_001407946.1:c.3939G>C
  • NM_001407947.1:c.3939G>C
  • NM_001407948.1:c.3939G>C
  • NM_001407949.1:c.3939G>C
  • NM_001407950.1:c.3939G>C
  • NM_001407951.1:c.3939G>C
  • NM_001407952.1:c.3936G>C
  • NM_001407953.1:c.3936G>C
  • NM_001407954.1:c.3936G>C
  • NM_001407955.1:c.3936G>C
  • NM_001407956.1:c.3933G>C
  • NM_001407957.1:c.3936G>C
  • NM_001407958.1:c.3936G>C
  • NM_001407959.1:c.3891G>C
  • NM_001407960.1:c.3891G>C
  • NM_001407962.1:c.3888G>C
  • NM_001407963.1:c.3888G>C
  • NM_001407964.1:c.4128G>C
  • NM_001407965.1:c.3765G>C
  • NM_001407966.1:c.3384G>C
  • NM_001407967.1:c.3384G>C
  • NM_001407968.1:c.1668G>C
  • NM_001407969.1:c.1665G>C
  • NM_001407970.1:c.963G>C
  • NM_001407971.1:c.963G>C
  • NM_001407972.1:c.960G>C
  • NM_001407973.1:c.963G>C
  • NM_001407974.1:c.963G>C
  • NM_001407975.1:c.963G>C
  • NM_001407976.1:c.963G>C
  • NM_001407977.1:c.963G>C
  • NM_001407978.1:c.963G>C
  • NM_001407979.1:c.960G>C
  • NM_001407980.1:c.960G>C
  • NM_001407981.1:c.960G>C
  • NM_001407982.1:c.960G>C
  • NM_001407983.1:c.960G>C
  • NM_001407984.1:c.960G>C
  • NM_001407985.1:c.960G>C
  • NM_001407986.1:c.960G>C
  • NM_001407990.1:c.960G>C
  • NM_001407991.1:c.960G>C
  • NM_001407992.1:c.960G>C
  • NM_001407993.1:c.963G>C
  • NM_001408392.1:c.960G>C
  • NM_001408396.1:c.960G>C
  • NM_001408397.1:c.960G>C
  • NM_001408398.1:c.960G>C
  • NM_001408399.1:c.960G>C
  • NM_001408400.1:c.957G>C
  • NM_001408401.1:c.957G>C
  • NM_001408402.1:c.957G>C
  • NM_001408403.1:c.960G>C
  • NM_001408404.1:c.960G>C
  • NM_001408406.1:c.954G>C
  • NM_001408407.1:c.957G>C
  • NM_001408408.1:c.954G>C
  • NM_001408409.1:c.885G>C
  • NM_001408410.1:c.822G>C
  • NM_001408411.1:c.885G>C
  • NM_001408412.1:c.885G>C
  • NM_001408413.1:c.882G>C
  • NM_001408414.1:c.885G>C
  • NM_001408415.1:c.885G>C
  • NM_001408416.1:c.882G>C
  • NM_001408418.1:c.846G>C
  • NM_001408419.1:c.846G>C
  • NM_001408420.1:c.846G>C
  • NM_001408421.1:c.843G>C
  • NM_001408422.1:c.846G>C
  • NM_001408423.1:c.846G>C
  • NM_001408424.1:c.843G>C
  • NM_001408425.1:c.840G>C
  • NM_001408426.1:c.840G>C
  • NM_001408427.1:c.840G>C
  • NM_001408428.1:c.840G>C
  • NM_001408429.1:c.840G>C
  • NM_001408430.1:c.840G>C
  • NM_001408431.1:c.843G>C
  • NM_001408432.1:c.837G>C
  • NM_001408433.1:c.837G>C
  • NM_001408434.1:c.837G>C
  • NM_001408435.1:c.837G>C
  • NM_001408436.1:c.840G>C
  • NM_001408437.1:c.840G>C
  • NM_001408438.1:c.840G>C
  • NM_001408439.1:c.840G>C
  • NM_001408440.1:c.840G>C
  • NM_001408441.1:c.837G>C
  • NM_001408442.1:c.837G>C
  • NM_001408443.1:c.837G>C
  • NM_001408444.1:c.837G>C
  • NM_001408445.1:c.837G>C
  • NM_001408446.1:c.837G>C
  • NM_001408447.1:c.837G>C
  • NM_001408448.1:c.837G>C
  • NM_001408450.1:c.837G>C
  • NM_001408451.1:c.828G>C
  • NM_001408452.1:c.822G>C
  • NM_001408453.1:c.822G>C
  • NM_001408454.1:c.822G>C
  • NM_001408455.1:c.822G>C
  • NM_001408456.1:c.822G>C
  • NM_001408457.1:c.822G>C
  • NM_001408458.1:c.822G>C
  • NM_001408459.1:c.822G>C
  • NM_001408460.1:c.822G>C
  • NM_001408461.1:c.822G>C
  • NM_001408462.1:c.819G>C
  • NM_001408463.1:c.819G>C
  • NM_001408464.1:c.819G>C
  • NM_001408465.1:c.819G>C
  • NM_001408466.1:c.819G>C
  • NM_001408467.1:c.819G>C
  • NM_001408468.1:c.819G>C
  • NM_001408469.1:c.819G>C
  • NM_001408470.1:c.816G>C
  • NM_001408472.1:c.960G>C
  • NM_001408473.1:c.960G>C
  • NM_001408474.1:c.762G>C
  • NM_001408475.1:c.759G>C
  • NM_001408476.1:c.762G>C
  • NM_001408478.1:c.753G>C
  • NM_001408479.1:c.753G>C
  • NM_001408480.1:c.753G>C
  • NM_001408481.1:c.753G>C
  • NM_001408482.1:c.753G>C
  • NM_001408483.1:c.753G>C
  • NM_001408484.1:c.753G>C
  • NM_001408485.1:c.753G>C
  • NM_001408489.1:c.750G>C
  • NM_001408490.1:c.750G>C
  • NM_001408491.1:c.750G>C
  • NM_001408492.1:c.750G>C
  • NM_001408493.1:c.750G>C
  • NM_001408494.1:c.723G>C
  • NM_001408495.1:c.720G>C
  • NM_001408496.1:c.699G>C
  • NM_001408497.1:c.699G>C
  • NM_001408498.1:c.699G>C
  • NM_001408499.1:c.699G>C
  • NM_001408500.1:c.699G>C
  • NM_001408501.1:c.699G>C
  • NM_001408502.1:c.630G>C
  • NM_001408503.1:c.696G>C
  • NM_001408504.1:c.696G>C
  • NM_001408505.1:c.696G>C
  • NM_001408506.1:c.636G>C
  • NM_001408507.1:c.633G>C
  • NM_001408508.1:c.624G>C
  • NM_001408509.1:c.624G>C
  • NM_001408510.1:c.582G>C
  • NM_001408511.1:c.579G>C
  • NM_001408512.1:c.459G>C
  • NM_001408513.1:c.750G>C
  • NM_001408514.1:c.753G>C
  • NM_007294.4:c.4272G>CMANE SELECT
  • NM_007297.4:c.4131G>C
  • NM_007298.4:c.963G>C
  • NM_007299.4:c.963G>C
  • NM_007300.4:c.4272G>C
  • NM_007304.2:c.963G>C
  • NP_001394500.1:p.Gln1353His
  • NP_001394510.1:p.Gln1424His
  • NP_001394511.1:p.Gln1424His
  • NP_001394512.1:p.Gln1424His
  • NP_001394514.1:p.Gln1424His
  • NP_001394516.1:p.Gln1423His
  • NP_001394519.1:p.Gln1423His
  • NP_001394520.1:p.Gln1423His
  • NP_001394522.1:p.Gln1424His
  • NP_001394523.1:p.Gln1424His
  • NP_001394525.1:p.Gln1424His
  • NP_001394526.1:p.Gln1424His
  • NP_001394527.1:p.Gln1424His
  • NP_001394531.1:p.Gln1424His
  • NP_001394532.1:p.Gln1424His
  • NP_001394534.1:p.Gln1424His
  • NP_001394539.1:p.Gln1423His
  • NP_001394540.1:p.Gln1423His
  • NP_001394541.1:p.Gln1423His
  • NP_001394542.1:p.Gln1423His
  • NP_001394543.1:p.Gln1423His
  • NP_001394544.1:p.Gln1423His
  • NP_001394545.1:p.Gln1424His
  • NP_001394546.1:p.Gln1424His
  • NP_001394547.1:p.Gln1424His
  • NP_001394548.1:p.Gln1424His
  • NP_001394549.1:p.Gln1424His
  • NP_001394550.1:p.Gln1424His
  • NP_001394551.1:p.Gln1424His
  • NP_001394552.1:p.Gln1424His
  • NP_001394553.1:p.Gln1423His
  • NP_001394554.1:p.Gln1423His
  • NP_001394555.1:p.Gln1423His
  • NP_001394556.1:p.Gln1422His
  • NP_001394557.1:p.Gln1422His
  • NP_001394558.1:p.Gln1422His
  • NP_001394559.1:p.Gln1422His
  • NP_001394560.1:p.Gln1422His
  • NP_001394561.1:p.Gln1422His
  • NP_001394562.1:p.Gln1423His
  • NP_001394563.1:p.Gln1423His
  • NP_001394564.1:p.Gln1423His
  • NP_001394565.1:p.Gln1423His
  • NP_001394566.1:p.Gln1423His
  • NP_001394567.1:p.Gln1423His
  • NP_001394568.1:p.Gln1423His
  • NP_001394569.1:p.Gln1423His
  • NP_001394570.1:p.Gln1423His
  • NP_001394571.1:p.Gln1423His
  • NP_001394573.1:p.Gln1422His
  • NP_001394574.1:p.Gln1422His
  • NP_001394575.1:p.Gln1420His
  • NP_001394576.1:p.Gln1420His
  • NP_001394577.1:p.Gln1383His
  • NP_001394578.1:p.Gln1382His
  • NP_001394581.1:p.Gln1424His
  • NP_001394582.1:p.Gln1398His
  • NP_001394583.1:p.Gln1398His
  • NP_001394584.1:p.Gln1398His
  • NP_001394585.1:p.Gln1397His
  • NP_001394586.1:p.Gln1398His
  • NP_001394587.1:p.Gln1398His
  • NP_001394588.1:p.Gln1396His
  • NP_001394589.1:p.Gln1396His
  • NP_001394590.1:p.Gln1397His
  • NP_001394591.1:p.Gln1397His
  • NP_001394592.1:p.Gln1397His
  • NP_001394593.1:p.Gln1383His
  • NP_001394594.1:p.Gln1383His
  • NP_001394595.1:p.Gln1383His
  • NP_001394596.1:p.Gln1383His
  • NP_001394597.1:p.Gln1383His
  • NP_001394598.1:p.Gln1383His
  • NP_001394599.1:p.Gln1382His
  • NP_001394600.1:p.Gln1382His
  • NP_001394601.1:p.Gln1382His
  • NP_001394602.1:p.Gln1382His
  • NP_001394603.1:p.Gln1382His
  • NP_001394604.1:p.Gln1382His
  • NP_001394605.1:p.Gln1382His
  • NP_001394606.1:p.Gln1383His
  • NP_001394607.1:p.Gln1383His
  • NP_001394608.1:p.Gln1383His
  • NP_001394609.1:p.Gln1383His
  • NP_001394610.1:p.Gln1382His
  • NP_001394611.1:p.Gln1382His
  • NP_001394612.1:p.Gln1382His
  • NP_001394613.1:p.Gln1424His
  • NP_001394614.1:p.Gln1381His
  • NP_001394615.1:p.Gln1381His
  • NP_001394616.1:p.Gln1381His
  • NP_001394617.1:p.Gln1382His
  • NP_001394618.1:p.Gln1382His
  • NP_001394619.1:p.Gln1381His
  • NP_001394620.1:p.Gln1381His
  • NP_001394621.1:p.Gln1377His
  • NP_001394623.1:p.Gln1377His
  • NP_001394624.1:p.Gln1377His
  • NP_001394625.1:p.Gln1377His
  • NP_001394626.1:p.Gln1377His
  • NP_001394627.1:p.Gln1377His
  • NP_001394653.1:p.Gln1377His
  • NP_001394654.1:p.Gln1377His
  • NP_001394655.1:p.Gln1377His
  • NP_001394656.1:p.Gln1377His
  • NP_001394657.1:p.Gln1377His
  • NP_001394658.1:p.Gln1377His
  • NP_001394659.1:p.Gln1377His
  • NP_001394660.1:p.Gln1377His
  • NP_001394661.1:p.Gln1377His
  • NP_001394662.1:p.Gln1377His
  • NP_001394663.1:p.Gln1377His
  • NP_001394664.1:p.Gln1377His
  • NP_001394665.1:p.Gln1377His
  • NP_001394666.1:p.Gln1377His
  • NP_001394667.1:p.Gln1377His
  • NP_001394668.1:p.Gln1377His
  • NP_001394669.1:p.Gln1376His
  • NP_001394670.1:p.Gln1376His
  • NP_001394671.1:p.Gln1376His
  • NP_001394672.1:p.Gln1376His
  • NP_001394673.1:p.Gln1376His
  • NP_001394674.1:p.Gln1376His
  • NP_001394675.1:p.Gln1376His
  • NP_001394676.1:p.Gln1376His
  • NP_001394677.1:p.Gln1376His
  • NP_001394678.1:p.Gln1376His
  • NP_001394679.1:p.Gln1376His
  • NP_001394680.1:p.Gln1376His
  • NP_001394681.1:p.Gln1376His
  • NP_001394767.1:p.Gln1376His
  • NP_001394768.1:p.Gln1376His
  • NP_001394770.1:p.Gln1376His
  • NP_001394771.1:p.Gln1376His
  • NP_001394772.1:p.Gln1376His
  • NP_001394773.1:p.Gln1376His
  • NP_001394774.1:p.Gln1376His
  • NP_001394775.1:p.Gln1376His
  • NP_001394776.1:p.Gln1375His
  • NP_001394777.1:p.Gln1375His
  • NP_001394778.1:p.Gln1375His
  • NP_001394779.1:p.Gln1376His
  • NP_001394780.1:p.Gln1376His
  • NP_001394781.1:p.Gln1376His
  • NP_001394782.1:p.Gln1353His
  • NP_001394783.1:p.Gln1424His
  • NP_001394787.1:p.Gln1424His
  • NP_001394788.1:p.Gln1424His
  • NP_001394789.1:p.Gln1423His
  • NP_001394790.1:p.Gln1423His
  • NP_001394791.1:p.Gln1357His
  • NP_001394792.1:p.Gln1383His
  • NP_001394803.1:p.Gln1356His
  • NP_001394804.1:p.Gln1356His
  • NP_001394808.1:p.Gln1354His
  • NP_001394810.1:p.Gln1354His
  • NP_001394811.1:p.Gln1354His
  • NP_001394813.1:p.Gln1354His
  • NP_001394814.1:p.Gln1354His
  • NP_001394815.1:p.Gln1354His
  • NP_001394816.1:p.Gln1354His
  • NP_001394818.1:p.Gln1354His
  • NP_001394823.1:p.Gln1353His
  • NP_001394824.1:p.Gln1353His
  • NP_001394825.1:p.Gln1353His
  • NP_001394826.1:p.Gln1353His
  • NP_001394827.1:p.Gln1353His
  • NP_001394828.1:p.Gln1353His
  • NP_001394829.1:p.Gln1354His
  • NP_001394831.1:p.Gln1354His
  • NP_001394833.1:p.Gln1354His
  • NP_001394835.1:p.Gln1354His
  • NP_001394836.1:p.Gln1353His
  • NP_001394837.1:p.Gln1353His
  • NP_001394838.1:p.Gln1353His
  • NP_001394839.1:p.Gln1353His
  • NP_001394844.1:p.Gln1352His
  • NP_001394845.1:p.Gln1353His
  • NP_001394846.1:p.Gln1353His
  • NP_001394847.1:p.Gln1353His
  • NP_001394848.1:p.Gln1383His
  • NP_001394849.1:p.Gln1336His
  • NP_001394850.1:p.Gln1336His
  • NP_001394851.1:p.Gln1336His
  • NP_001394852.1:p.Gln1336His
  • NP_001394853.1:p.Gln1336His
  • NP_001394854.1:p.Gln1336His
  • NP_001394855.1:p.Gln1336His
  • NP_001394856.1:p.Gln1336His
  • NP_001394857.1:p.Gln1336His
  • NP_001394858.1:p.Gln1336His
  • NP_001394859.1:p.Gln1335His
  • NP_001394860.1:p.Gln1335His
  • NP_001394861.1:p.Gln1335His
  • NP_001394862.1:p.Gln1335His
  • NP_001394863.1:p.Gln1334His
  • NP_001394864.1:p.Gln1335His
  • NP_001394865.1:p.Gln1335His
  • NP_001394866.1:p.Gln1383His
  • NP_001394867.1:p.Gln1383His
  • NP_001394868.1:p.Gln1383His
  • NP_001394869.1:p.Gln1382His
  • NP_001394870.1:p.Gln1382His
  • NP_001394871.1:p.Gln1377His
  • NP_001394872.1:p.Gln1376His
  • NP_001394873.1:p.Gln1377His
  • NP_001394874.1:p.Gln1377His
  • NP_001394875.1:p.Gln1313His
  • NP_001394876.1:p.Gln1313His
  • NP_001394877.1:p.Gln1313His
  • NP_001394878.1:p.Gln1313His
  • NP_001394879.1:p.Gln1313His
  • NP_001394880.1:p.Gln1313His
  • NP_001394881.1:p.Gln1312His
  • NP_001394882.1:p.Gln1312His
  • NP_001394883.1:p.Gln1312His
  • NP_001394884.1:p.Gln1312His
  • NP_001394885.1:p.Gln1311His
  • NP_001394886.1:p.Gln1312His
  • NP_001394887.1:p.Gln1312His
  • NP_001394888.1:p.Gln1297His
  • NP_001394889.1:p.Gln1297His
  • NP_001394891.1:p.Gln1296His
  • NP_001394892.1:p.Gln1296His
  • NP_001394893.1:p.Gln1376His
  • NP_001394894.1:p.Gln1255His
  • NP_001394895.1:p.Gln1128His
  • NP_001394896.1:p.Gln1128His
  • NP_001394897.1:p.Gln556His
  • NP_001394898.1:p.Gln555His
  • NP_001394899.1:p.Gln321His
  • NP_001394900.1:p.Gln321His
  • NP_001394901.1:p.Gln320His
  • NP_001394902.1:p.Gln321His
  • NP_001394903.1:p.Gln321His
  • NP_001394904.1:p.Gln321His
  • NP_001394905.1:p.Gln321His
  • NP_001394906.1:p.Gln321His
  • NP_001394907.1:p.Gln321His
  • NP_001394908.1:p.Gln320His
  • NP_001394909.1:p.Gln320His
  • NP_001394910.1:p.Gln320His
  • NP_001394911.1:p.Gln320His
  • NP_001394912.1:p.Gln320His
  • NP_001394913.1:p.Gln320His
  • NP_001394914.1:p.Gln320His
  • NP_001394915.1:p.Gln320His
  • NP_001394919.1:p.Gln320His
  • NP_001394920.1:p.Gln320His
  • NP_001394921.1:p.Gln320His
  • NP_001394922.1:p.Gln321His
  • NP_001395321.1:p.Gln320His
  • NP_001395325.1:p.Gln320His
  • NP_001395326.1:p.Gln320His
  • NP_001395327.1:p.Gln320His
  • NP_001395328.1:p.Gln320His
  • NP_001395329.1:p.Gln319His
  • NP_001395330.1:p.Gln319His
  • NP_001395331.1:p.Gln319His
  • NP_001395332.1:p.Gln320His
  • NP_001395333.1:p.Gln320His
  • NP_001395335.1:p.Gln318His
  • NP_001395336.1:p.Gln319His
  • NP_001395337.1:p.Gln318His
  • NP_001395338.1:p.Gln295His
  • NP_001395339.1:p.Gln274His
  • NP_001395340.1:p.Gln295His
  • NP_001395341.1:p.Gln295His
  • NP_001395342.1:p.Gln294His
  • NP_001395343.1:p.Gln295His
  • NP_001395344.1:p.Gln295His
  • NP_001395345.1:p.Gln294His
  • NP_001395347.1:p.Gln282His
  • NP_001395348.1:p.Gln282His
  • NP_001395349.1:p.Gln282His
  • NP_001395350.1:p.Gln281His
  • NP_001395351.1:p.Gln282His
  • NP_001395352.1:p.Gln282His
  • NP_001395353.1:p.Gln281His
  • NP_001395354.1:p.Gln280His
  • NP_001395355.1:p.Gln280His
  • NP_001395356.1:p.Gln280His
  • NP_001395357.1:p.Gln280His
  • NP_001395358.1:p.Gln280His
  • NP_001395359.1:p.Gln280His
  • NP_001395360.1:p.Gln281His
  • NP_001395361.1:p.Gln279His
  • NP_001395362.1:p.Gln279His
  • NP_001395363.1:p.Gln279His
  • NP_001395364.1:p.Gln279His
  • NP_001395365.1:p.Gln280His
  • NP_001395366.1:p.Gln280His
  • NP_001395367.1:p.Gln280His
  • NP_001395368.1:p.Gln280His
  • NP_001395369.1:p.Gln280His
  • NP_001395370.1:p.Gln279His
  • NP_001395371.1:p.Gln279His
  • NP_001395372.1:p.Gln279His
  • NP_001395373.1:p.Gln279His
  • NP_001395374.1:p.Gln279His
  • NP_001395375.1:p.Gln279His
  • NP_001395376.1:p.Gln279His
  • NP_001395377.1:p.Gln279His
  • NP_001395379.1:p.Gln279His
  • NP_001395380.1:p.Gln276His
  • NP_001395381.1:p.Gln274His
  • NP_001395382.1:p.Gln274His
  • NP_001395383.1:p.Gln274His
  • NP_001395384.1:p.Gln274His
  • NP_001395385.1:p.Gln274His
  • NP_001395386.1:p.Gln274His
  • NP_001395387.1:p.Gln274His
  • NP_001395388.1:p.Gln274His
  • NP_001395389.1:p.Gln274His
  • NP_001395390.1:p.Gln274His
  • NP_001395391.1:p.Gln273His
  • NP_001395392.1:p.Gln273His
  • NP_001395393.1:p.Gln273His
  • NP_001395394.1:p.Gln273His
  • NP_001395395.1:p.Gln273His
  • NP_001395396.1:p.Gln273His
  • NP_001395397.1:p.Gln273His
  • NP_001395398.1:p.Gln273His
  • NP_001395399.1:p.Gln272His
  • NP_001395401.1:p.Gln320His
  • NP_001395402.1:p.Gln320His
  • NP_001395403.1:p.Gln254His
  • NP_001395404.1:p.Gln253His
  • NP_001395405.1:p.Gln254His
  • NP_001395407.1:p.Gln251His
  • NP_001395408.1:p.Gln251His
  • NP_001395409.1:p.Gln251His
  • NP_001395410.1:p.Gln251His
  • NP_001395411.1:p.Gln251His
  • NP_001395412.1:p.Gln251His
  • NP_001395413.1:p.Gln251His
  • NP_001395414.1:p.Gln251His
  • NP_001395418.1:p.Gln250His
  • NP_001395419.1:p.Gln250His
  • NP_001395420.1:p.Gln250His
  • NP_001395421.1:p.Gln250His
  • NP_001395422.1:p.Gln250His
  • NP_001395423.1:p.Gln241His
  • NP_001395424.1:p.Gln240His
  • NP_001395425.1:p.Gln233His
  • NP_001395426.1:p.Gln233His
  • NP_001395427.1:p.Gln233His
  • NP_001395428.1:p.Gln233His
  • NP_001395429.1:p.Gln233His
  • NP_001395430.1:p.Gln233His
  • NP_001395431.1:p.Gln210His
  • NP_001395432.1:p.Gln232His
  • NP_001395433.1:p.Gln232His
  • NP_001395434.1:p.Gln232His
  • NP_001395435.1:p.Gln212His
  • NP_001395436.1:p.Gln211His
  • NP_001395437.1:p.Gln208His
  • NP_001395438.1:p.Gln208His
  • NP_001395439.1:p.Gln194His
  • NP_001395440.1:p.Gln193His
  • NP_001395441.1:p.Gln153His
  • NP_001395442.1:p.Gln250His
  • NP_001395443.1:p.Gln251His
  • NP_009225.1:p.Gln1424His
  • NP_009225.1:p.Gln1424His
  • NP_009228.2:p.Gln1377His
  • NP_009229.2:p.Gln321His
  • NP_009229.2:p.Gln321His
  • NP_009230.2:p.Gln321His
  • NP_009231.2:p.Gln1424His
  • NP_009235.2:p.Gln321His
  • LRG_292t1:c.4272G>C
  • LRG_292:g.135495G>C
  • LRG_292p1:p.Gln1424His
  • NC_000017.10:g.41234506C>G
  • NM_007294.3:c.4272G>C
  • NM_007298.3:c.963G>C
  • NR_027676.2:n.4449G>C
Nucleotide change:
4391G>C
Protein change:
Q1128H
Links:
dbSNP: rs398122684
NCBI 1000 Genomes Browser:
rs398122684
Molecular consequence:
  • NM_001407571.1:c.4059G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.4272G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.4272G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.4272G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.4272G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.4269G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.4269G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.4269G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.4272G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.4272G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.4272G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.4272G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.4272G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.4272G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.4272G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.4272G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.4269G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.4269G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.4269G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.4269G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.4269G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.4269G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.4272G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.4272G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.4272G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.4272G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.4272G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.4272G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.4272G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.4272G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.4269G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.4269G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.4269G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.4266G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.4266G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.4266G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.4266G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.4266G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.4266G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.4269G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.4269G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.4269G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.4269G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.4269G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.4269G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.4269G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.4269G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.4269G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.4269G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.4266G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.4266G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.4260G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.4260G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.4149G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.4146G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.4272G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.4194G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.4194G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.4194G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.4191G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.4194G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.4194G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.4188G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.4188G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.4191G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.4191G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.4191G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.4149G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.4149G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.4149G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.4149G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.4149G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.4149G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.4146G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.4146G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.4146G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.4146G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.4146G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.4146G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.4146G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.4149G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.4149G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.4149G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.4149G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.4146G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.4146G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.4146G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.4272G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.4143G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.4143G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.4143G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.4146G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.4146G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.4143G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.4143G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.4131G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.4131G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.4131G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.4131G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.4131G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.4131G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.4131G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.4131G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.4131G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.4131G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.4131G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.4131G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.4131G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.4131G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.4131G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.4131G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.4131G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.4131G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.4131G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.4131G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.4131G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.4131G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.4128G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.4128G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.4128G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.4128G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.4128G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.4128G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.4128G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.4128G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.4128G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.4128G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.4128G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.4128G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.4128G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.4128G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.4128G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.4128G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.4128G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.4128G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.4128G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.4128G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.4128G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.4125G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.4125G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.4125G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.4128G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.4128G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.4128G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.4059G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.4272G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.4272G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.4272G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.4269G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.4269G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.4071G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.4149G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.4068G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.4068G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.4062G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.4062G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.4062G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.4062G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.4062G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.4062G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.4062G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.4062G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.4059G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.4059G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.4059G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.4059G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.4059G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.4059G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.4062G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.4062G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.4062G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.4062G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.4059G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.4059G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.4059G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.4059G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.4056G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.4059G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.4059G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.4059G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.4149G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.4008G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.4008G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.4008G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.4008G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.4008G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.4008G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.4008G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.4008G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.4008G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.4008G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.4005G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.4005G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.4005G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.4005G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.4002G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.4005G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.4005G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.4149G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.4149G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.4149G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.4146G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.4146G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.4131G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.4128G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.4131G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.4131G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.3939G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.3939G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.3939G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.3939G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.3939G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.3939G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.3936G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.3936G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.3936G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.3936G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.3933G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.3936G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.3936G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.3891G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.3891G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.3888G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.3888G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.4128G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.3765G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.3384G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.3384G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.1668G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.1665G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.963G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.963G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.960G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.963G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.963G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.963G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.963G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.963G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.963G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.960G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.960G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.960G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.960G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.960G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.960G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.960G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.960G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.960G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.960G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.960G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.963G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.960G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.960G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.960G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.960G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.960G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.957G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.957G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.957G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.960G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.960G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.954G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.957G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.954G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.885G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408410.1:c.822G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.885G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.885G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.882G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.885G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.885G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.882G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.846G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.846G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.846G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.843G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.846G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.846G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.843G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.840G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.840G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.840G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.840G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.840G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.840G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.843G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.837G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.837G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.837G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.837G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.840G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.840G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.840G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.840G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.840G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.837G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.837G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.837G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.837G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.837G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.837G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.837G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.837G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.837G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408451.1:c.828G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408452.1:c.822G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408453.1:c.822G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408454.1:c.822G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408455.1:c.822G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408456.1:c.822G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408457.1:c.822G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408458.1:c.822G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408459.1:c.822G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408460.1:c.822G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408461.1:c.822G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408462.1:c.819G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408463.1:c.819G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408464.1:c.819G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408465.1:c.819G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408466.1:c.819G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408467.1:c.819G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408468.1:c.819G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408469.1:c.819G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408470.1:c.816G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408472.1:c.960G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408473.1:c.960G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.762G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.759G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.762G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408478.1:c.753G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408479.1:c.753G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408480.1:c.753G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408481.1:c.753G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408482.1:c.753G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408483.1:c.753G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408484.1:c.753G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408485.1:c.753G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408489.1:c.750G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408490.1:c.750G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408491.1:c.750G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408492.1:c.750G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408493.1:c.750G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.723G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.720G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408496.1:c.699G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408497.1:c.699G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408498.1:c.699G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408499.1:c.699G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408500.1:c.699G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408501.1:c.699G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408502.1:c.630G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408503.1:c.696G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408504.1:c.696G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408505.1:c.696G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408506.1:c.636G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408507.1:c.633G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408508.1:c.624G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408509.1:c.624G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408510.1:c.582G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408511.1:c.579G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408512.1:c.459G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408513.1:c.750G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408514.1:c.753G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.4272G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.4131G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.963G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.963G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.4272G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.963G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.4449G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Name:
Breast-ovarian cancer, familial, susceptibility to, 1 (BROVCA1)
Synonyms:
OVARIAN CANCER, SUSCEPTIBILITY TO; Breast-ovarian cancer, familial 1; Breast cancer, familial 1
Identifiers:
MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000108941Sharing Clinical Reports Project (SCRP)
no assertion criteria provided
Uncertain significance
(Jun 13, 2011) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided1not providednot provided1not providedclinical testing

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000108941.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Jul 15, 2024