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NM_007294.4(BRCA1):c.2222C>T (p.Ser741Phe) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Jan 16, 2018
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:
RCV000111802.10

Allele description [Variation Report for NM_007294.4(BRCA1):c.2222C>T (p.Ser741Phe)]

NM_007294.4(BRCA1):c.2222C>T (p.Ser741Phe)

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.2222C>T (p.Ser741Phe)
HGVS:
  • NC_000017.11:g.43093309G>A
  • NG_005905.2:g.124675C>T
  • NM_001407571.1:c.2009C>T
  • NM_001407581.1:c.2222C>T
  • NM_001407582.1:c.2222C>T
  • NM_001407583.1:c.2222C>T
  • NM_001407585.1:c.2222C>T
  • NM_001407587.1:c.2219C>T
  • NM_001407590.1:c.2219C>T
  • NM_001407591.1:c.2219C>T
  • NM_001407593.1:c.2222C>T
  • NM_001407594.1:c.2222C>T
  • NM_001407596.1:c.2222C>T
  • NM_001407597.1:c.2222C>T
  • NM_001407598.1:c.2222C>T
  • NM_001407602.1:c.2222C>T
  • NM_001407603.1:c.2222C>T
  • NM_001407605.1:c.2222C>T
  • NM_001407610.1:c.2219C>T
  • NM_001407611.1:c.2219C>T
  • NM_001407612.1:c.2219C>T
  • NM_001407613.1:c.2219C>T
  • NM_001407614.1:c.2219C>T
  • NM_001407615.1:c.2219C>T
  • NM_001407616.1:c.2222C>T
  • NM_001407617.1:c.2222C>T
  • NM_001407618.1:c.2222C>T
  • NM_001407619.1:c.2222C>T
  • NM_001407620.1:c.2222C>T
  • NM_001407621.1:c.2222C>T
  • NM_001407622.1:c.2222C>T
  • NM_001407623.1:c.2222C>T
  • NM_001407624.1:c.2222C>T
  • NM_001407625.1:c.2222C>T
  • NM_001407626.1:c.2222C>T
  • NM_001407627.1:c.2219C>T
  • NM_001407628.1:c.2219C>T
  • NM_001407629.1:c.2219C>T
  • NM_001407630.1:c.2219C>T
  • NM_001407631.1:c.2219C>T
  • NM_001407632.1:c.2219C>T
  • NM_001407633.1:c.2219C>T
  • NM_001407634.1:c.2219C>T
  • NM_001407635.1:c.2219C>T
  • NM_001407636.1:c.2219C>T
  • NM_001407637.1:c.2219C>T
  • NM_001407638.1:c.2219C>T
  • NM_001407639.1:c.2222C>T
  • NM_001407640.1:c.2222C>T
  • NM_001407641.1:c.2222C>T
  • NM_001407642.1:c.2222C>T
  • NM_001407644.1:c.2219C>T
  • NM_001407645.1:c.2219C>T
  • NM_001407646.1:c.2213C>T
  • NM_001407647.1:c.2213C>T
  • NM_001407648.1:c.2099C>T
  • NM_001407649.1:c.2096C>T
  • NM_001407652.1:c.2222C>T
  • NM_001407653.1:c.2144C>T
  • NM_001407654.1:c.2144C>T
  • NM_001407655.1:c.2144C>T
  • NM_001407656.1:c.2144C>T
  • NM_001407657.1:c.2144C>T
  • NM_001407658.1:c.2144C>T
  • NM_001407659.1:c.2141C>T
  • NM_001407660.1:c.2141C>T
  • NM_001407661.1:c.2141C>T
  • NM_001407662.1:c.2141C>T
  • NM_001407663.1:c.2144C>T
  • NM_001407664.1:c.2099C>T
  • NM_001407665.1:c.2099C>T
  • NM_001407666.1:c.2099C>T
  • NM_001407667.1:c.2099C>T
  • NM_001407668.1:c.2099C>T
  • NM_001407669.1:c.2099C>T
  • NM_001407670.1:c.2096C>T
  • NM_001407671.1:c.2096C>T
  • NM_001407672.1:c.2096C>T
  • NM_001407673.1:c.2096C>T
  • NM_001407674.1:c.2099C>T
  • NM_001407675.1:c.2099C>T
  • NM_001407676.1:c.2099C>T
  • NM_001407677.1:c.2099C>T
  • NM_001407678.1:c.2099C>T
  • NM_001407679.1:c.2099C>T
  • NM_001407680.1:c.2099C>T
  • NM_001407681.1:c.2099C>T
  • NM_001407682.1:c.2099C>T
  • NM_001407683.1:c.2099C>T
  • NM_001407684.1:c.2222C>T
  • NM_001407685.1:c.2096C>T
  • NM_001407686.1:c.2096C>T
  • NM_001407687.1:c.2096C>T
  • NM_001407688.1:c.2096C>T
  • NM_001407689.1:c.2096C>T
  • NM_001407690.1:c.2096C>T
  • NM_001407691.1:c.2096C>T
  • NM_001407692.1:c.2081C>T
  • NM_001407694.1:c.2081C>T
  • NM_001407695.1:c.2081C>T
  • NM_001407696.1:c.2081C>T
  • NM_001407697.1:c.2081C>T
  • NM_001407698.1:c.2081C>T
  • NM_001407724.1:c.2081C>T
  • NM_001407725.1:c.2081C>T
  • NM_001407726.1:c.2081C>T
  • NM_001407727.1:c.2081C>T
  • NM_001407728.1:c.2081C>T
  • NM_001407729.1:c.2081C>T
  • NM_001407730.1:c.2081C>T
  • NM_001407731.1:c.2081C>T
  • NM_001407732.1:c.2081C>T
  • NM_001407733.1:c.2081C>T
  • NM_001407734.1:c.2081C>T
  • NM_001407735.1:c.2081C>T
  • NM_001407736.1:c.2081C>T
  • NM_001407737.1:c.2081C>T
  • NM_001407738.1:c.2081C>T
  • NM_001407739.1:c.2081C>T
  • NM_001407740.1:c.2078C>T
  • NM_001407741.1:c.2078C>T
  • NM_001407742.1:c.2078C>T
  • NM_001407743.1:c.2078C>T
  • NM_001407744.1:c.2078C>T
  • NM_001407745.1:c.2078C>T
  • NM_001407746.1:c.2078C>T
  • NM_001407747.1:c.2078C>T
  • NM_001407748.1:c.2078C>T
  • NM_001407749.1:c.2078C>T
  • NM_001407750.1:c.2081C>T
  • NM_001407751.1:c.2081C>T
  • NM_001407752.1:c.2081C>T
  • NM_001407838.1:c.2078C>T
  • NM_001407839.1:c.2078C>T
  • NM_001407841.1:c.2078C>T
  • NM_001407842.1:c.2078C>T
  • NM_001407843.1:c.2078C>T
  • NM_001407844.1:c.2078C>T
  • NM_001407845.1:c.2078C>T
  • NM_001407846.1:c.2078C>T
  • NM_001407847.1:c.2078C>T
  • NM_001407848.1:c.2078C>T
  • NM_001407849.1:c.2078C>T
  • NM_001407850.1:c.2081C>T
  • NM_001407851.1:c.2081C>T
  • NM_001407852.1:c.2081C>T
  • NM_001407853.1:c.2009C>T
  • NM_001407854.1:c.2222C>T
  • NM_001407858.1:c.2222C>T
  • NM_001407859.1:c.2222C>T
  • NM_001407860.1:c.2219C>T
  • NM_001407861.1:c.2219C>T
  • NM_001407862.1:c.2021C>T
  • NM_001407863.1:c.2099C>T
  • NM_001407874.1:c.2018C>T
  • NM_001407875.1:c.2018C>T
  • NM_001407879.1:c.2012C>T
  • NM_001407881.1:c.2012C>T
  • NM_001407882.1:c.2012C>T
  • NM_001407884.1:c.2012C>T
  • NM_001407885.1:c.2012C>T
  • NM_001407886.1:c.2012C>T
  • NM_001407887.1:c.2012C>T
  • NM_001407889.1:c.2012C>T
  • NM_001407894.1:c.2009C>T
  • NM_001407895.1:c.2009C>T
  • NM_001407896.1:c.2009C>T
  • NM_001407897.1:c.2009C>T
  • NM_001407898.1:c.2009C>T
  • NM_001407899.1:c.2009C>T
  • NM_001407900.1:c.2012C>T
  • NM_001407902.1:c.2012C>T
  • NM_001407904.1:c.2012C>T
  • NM_001407906.1:c.2012C>T
  • NM_001407907.1:c.2012C>T
  • NM_001407908.1:c.2012C>T
  • NM_001407909.1:c.2012C>T
  • NM_001407910.1:c.2012C>T
  • NM_001407915.1:c.2009C>T
  • NM_001407916.1:c.2009C>T
  • NM_001407917.1:c.2009C>T
  • NM_001407918.1:c.2009C>T
  • NM_001407919.1:c.2099C>T
  • NM_001407920.1:c.1958C>T
  • NM_001407921.1:c.1958C>T
  • NM_001407922.1:c.1958C>T
  • NM_001407923.1:c.1958C>T
  • NM_001407924.1:c.1958C>T
  • NM_001407925.1:c.1958C>T
  • NM_001407926.1:c.1958C>T
  • NM_001407927.1:c.1958C>T
  • NM_001407928.1:c.1958C>T
  • NM_001407929.1:c.1958C>T
  • NM_001407930.1:c.1955C>T
  • NM_001407931.1:c.1955C>T
  • NM_001407932.1:c.1955C>T
  • NM_001407933.1:c.1958C>T
  • NM_001407934.1:c.1955C>T
  • NM_001407935.1:c.1958C>T
  • NM_001407936.1:c.1955C>T
  • NM_001407937.1:c.2099C>T
  • NM_001407938.1:c.2099C>T
  • NM_001407939.1:c.2099C>T
  • NM_001407940.1:c.2096C>T
  • NM_001407941.1:c.2096C>T
  • NM_001407942.1:c.2081C>T
  • NM_001407943.1:c.2078C>T
  • NM_001407944.1:c.2081C>T
  • NM_001407945.1:c.2081C>T
  • NM_001407946.1:c.1889C>T
  • NM_001407947.1:c.1889C>T
  • NM_001407948.1:c.1889C>T
  • NM_001407949.1:c.1889C>T
  • NM_001407950.1:c.1889C>T
  • NM_001407951.1:c.1889C>T
  • NM_001407952.1:c.1889C>T
  • NM_001407953.1:c.1889C>T
  • NM_001407954.1:c.1886C>T
  • NM_001407955.1:c.1886C>T
  • NM_001407956.1:c.1886C>T
  • NM_001407957.1:c.1889C>T
  • NM_001407958.1:c.1886C>T
  • NM_001407959.1:c.1841C>T
  • NM_001407960.1:c.1841C>T
  • NM_001407962.1:c.1838C>T
  • NM_001407963.1:c.1841C>T
  • NM_001407964.1:c.2078C>T
  • NM_001407965.1:c.1718C>T
  • NM_001407966.1:c.1334C>T
  • NM_001407967.1:c.1334C>T
  • NM_001407968.1:c.788-1170C>T
  • NM_001407969.1:c.788-1170C>T
  • NM_001407970.1:c.787+1435C>T
  • NM_001407971.1:c.787+1435C>T
  • NM_001407972.1:c.784+1435C>T
  • NM_001407973.1:c.787+1435C>T
  • NM_001407974.1:c.787+1435C>T
  • NM_001407975.1:c.787+1435C>T
  • NM_001407976.1:c.787+1435C>T
  • NM_001407977.1:c.787+1435C>T
  • NM_001407978.1:c.787+1435C>T
  • NM_001407979.1:c.787+1435C>T
  • NM_001407980.1:c.787+1435C>T
  • NM_001407981.1:c.787+1435C>T
  • NM_001407982.1:c.787+1435C>T
  • NM_001407983.1:c.787+1435C>T
  • NM_001407984.1:c.784+1435C>T
  • NM_001407985.1:c.784+1435C>T
  • NM_001407986.1:c.784+1435C>T
  • NM_001407990.1:c.787+1435C>T
  • NM_001407991.1:c.784+1435C>T
  • NM_001407992.1:c.784+1435C>T
  • NM_001407993.1:c.787+1435C>T
  • NM_001408392.1:c.784+1435C>T
  • NM_001408396.1:c.784+1435C>T
  • NM_001408397.1:c.784+1435C>T
  • NM_001408398.1:c.784+1435C>T
  • NM_001408399.1:c.784+1435C>T
  • NM_001408400.1:c.784+1435C>T
  • NM_001408401.1:c.784+1435C>T
  • NM_001408402.1:c.784+1435C>T
  • NM_001408403.1:c.787+1435C>T
  • NM_001408404.1:c.787+1435C>T
  • NM_001408406.1:c.790+1432C>T
  • NM_001408407.1:c.784+1435C>T
  • NM_001408408.1:c.778+1435C>T
  • NM_001408409.1:c.709+1435C>T
  • NM_001408410.1:c.646+1435C>T
  • NM_001408411.1:c.709+1435C>T
  • NM_001408412.1:c.709+1435C>T
  • NM_001408413.1:c.706+1435C>T
  • NM_001408414.1:c.709+1435C>T
  • NM_001408415.1:c.709+1435C>T
  • NM_001408416.1:c.706+1435C>T
  • NM_001408418.1:c.671-2277C>T
  • NM_001408419.1:c.671-2277C>T
  • NM_001408420.1:c.671-2277C>T
  • NM_001408421.1:c.668-2277C>T
  • NM_001408422.1:c.671-2277C>T
  • NM_001408423.1:c.671-2277C>T
  • NM_001408424.1:c.668-2277C>T
  • NM_001408425.1:c.664+1435C>T
  • NM_001408426.1:c.664+1435C>T
  • NM_001408427.1:c.664+1435C>T
  • NM_001408428.1:c.664+1435C>T
  • NM_001408429.1:c.664+1435C>T
  • NM_001408430.1:c.664+1435C>T
  • NM_001408431.1:c.668-2277C>T
  • NM_001408432.1:c.661+1435C>T
  • NM_001408433.1:c.661+1435C>T
  • NM_001408434.1:c.661+1435C>T
  • NM_001408435.1:c.661+1435C>T
  • NM_001408436.1:c.664+1435C>T
  • NM_001408437.1:c.664+1435C>T
  • NM_001408438.1:c.664+1435C>T
  • NM_001408439.1:c.664+1435C>T
  • NM_001408440.1:c.664+1435C>T
  • NM_001408441.1:c.664+1435C>T
  • NM_001408442.1:c.664+1435C>T
  • NM_001408443.1:c.664+1435C>T
  • NM_001408444.1:c.664+1435C>T
  • NM_001408445.1:c.661+1435C>T
  • NM_001408446.1:c.661+1435C>T
  • NM_001408447.1:c.661+1435C>T
  • NM_001408448.1:c.661+1435C>T
  • NM_001408450.1:c.661+1435C>T
  • NM_001408451.1:c.652+1435C>T
  • NM_001408452.1:c.646+1435C>T
  • NM_001408453.1:c.646+1435C>T
  • NM_001408454.1:c.646+1435C>T
  • NM_001408455.1:c.646+1435C>T
  • NM_001408456.1:c.646+1435C>T
  • NM_001408457.1:c.646+1435C>T
  • NM_001408458.1:c.646+1435C>T
  • NM_001408459.1:c.646+1435C>T
  • NM_001408460.1:c.646+1435C>T
  • NM_001408461.1:c.646+1435C>T
  • NM_001408462.1:c.643+1435C>T
  • NM_001408463.1:c.643+1435C>T
  • NM_001408464.1:c.643+1435C>T
  • NM_001408465.1:c.643+1435C>T
  • NM_001408466.1:c.646+1435C>T
  • NM_001408467.1:c.646+1435C>T
  • NM_001408468.1:c.643+1435C>T
  • NM_001408469.1:c.646+1435C>T
  • NM_001408470.1:c.643+1435C>T
  • NM_001408472.1:c.787+1435C>T
  • NM_001408473.1:c.784+1435C>T
  • NM_001408474.1:c.586+1435C>T
  • NM_001408475.1:c.583+1435C>T
  • NM_001408476.1:c.586+1435C>T
  • NM_001408478.1:c.577+1435C>T
  • NM_001408479.1:c.577+1435C>T
  • NM_001408480.1:c.577+1435C>T
  • NM_001408481.1:c.577+1435C>T
  • NM_001408482.1:c.577+1435C>T
  • NM_001408483.1:c.577+1435C>T
  • NM_001408484.1:c.577+1435C>T
  • NM_001408485.1:c.577+1435C>T
  • NM_001408489.1:c.577+1435C>T
  • NM_001408490.1:c.574+1435C>T
  • NM_001408491.1:c.574+1435C>T
  • NM_001408492.1:c.577+1435C>T
  • NM_001408493.1:c.574+1435C>T
  • NM_001408494.1:c.548-2277C>T
  • NM_001408495.1:c.545-2277C>T
  • NM_001408496.1:c.523+1435C>T
  • NM_001408497.1:c.523+1435C>T
  • NM_001408498.1:c.523+1435C>T
  • NM_001408499.1:c.523+1435C>T
  • NM_001408500.1:c.523+1435C>T
  • NM_001408501.1:c.523+1435C>T
  • NM_001408502.1:c.454+1435C>T
  • NM_001408503.1:c.520+1435C>T
  • NM_001408504.1:c.520+1435C>T
  • NM_001408505.1:c.520+1435C>T
  • NM_001408506.1:c.461-2277C>T
  • NM_001408507.1:c.461-2277C>T
  • NM_001408508.1:c.451+1435C>T
  • NM_001408509.1:c.451+1435C>T
  • NM_001408510.1:c.406+1435C>T
  • NM_001408511.1:c.404-2277C>T
  • NM_001408512.1:c.283+1435C>T
  • NM_001408513.1:c.577+1435C>T
  • NM_001408514.1:c.577+1435C>T
  • NM_007294.4:c.2222C>TMANE SELECT
  • NM_007297.4:c.2081C>T
  • NM_007298.4:c.787+1435C>T
  • NM_007299.4:c.787+1435C>T
  • NM_007300.4:c.2222C>T
  • NP_001394500.1:p.Ser670Phe
  • NP_001394510.1:p.Ser741Phe
  • NP_001394511.1:p.Ser741Phe
  • NP_001394512.1:p.Ser741Phe
  • NP_001394514.1:p.Ser741Phe
  • NP_001394516.1:p.Ser740Phe
  • NP_001394519.1:p.Ser740Phe
  • NP_001394520.1:p.Ser740Phe
  • NP_001394522.1:p.Ser741Phe
  • NP_001394523.1:p.Ser741Phe
  • NP_001394525.1:p.Ser741Phe
  • NP_001394526.1:p.Ser741Phe
  • NP_001394527.1:p.Ser741Phe
  • NP_001394531.1:p.Ser741Phe
  • NP_001394532.1:p.Ser741Phe
  • NP_001394534.1:p.Ser741Phe
  • NP_001394539.1:p.Ser740Phe
  • NP_001394540.1:p.Ser740Phe
  • NP_001394541.1:p.Ser740Phe
  • NP_001394542.1:p.Ser740Phe
  • NP_001394543.1:p.Ser740Phe
  • NP_001394544.1:p.Ser740Phe
  • NP_001394545.1:p.Ser741Phe
  • NP_001394546.1:p.Ser741Phe
  • NP_001394547.1:p.Ser741Phe
  • NP_001394548.1:p.Ser741Phe
  • NP_001394549.1:p.Ser741Phe
  • NP_001394550.1:p.Ser741Phe
  • NP_001394551.1:p.Ser741Phe
  • NP_001394552.1:p.Ser741Phe
  • NP_001394553.1:p.Ser741Phe
  • NP_001394554.1:p.Ser741Phe
  • NP_001394555.1:p.Ser741Phe
  • NP_001394556.1:p.Ser740Phe
  • NP_001394557.1:p.Ser740Phe
  • NP_001394558.1:p.Ser740Phe
  • NP_001394559.1:p.Ser740Phe
  • NP_001394560.1:p.Ser740Phe
  • NP_001394561.1:p.Ser740Phe
  • NP_001394562.1:p.Ser740Phe
  • NP_001394563.1:p.Ser740Phe
  • NP_001394564.1:p.Ser740Phe
  • NP_001394565.1:p.Ser740Phe
  • NP_001394566.1:p.Ser740Phe
  • NP_001394567.1:p.Ser740Phe
  • NP_001394568.1:p.Ser741Phe
  • NP_001394569.1:p.Ser741Phe
  • NP_001394570.1:p.Ser741Phe
  • NP_001394571.1:p.Ser741Phe
  • NP_001394573.1:p.Ser740Phe
  • NP_001394574.1:p.Ser740Phe
  • NP_001394575.1:p.Ser738Phe
  • NP_001394576.1:p.Ser738Phe
  • NP_001394577.1:p.Ser700Phe
  • NP_001394578.1:p.Ser699Phe
  • NP_001394581.1:p.Ser741Phe
  • NP_001394582.1:p.Ser715Phe
  • NP_001394583.1:p.Ser715Phe
  • NP_001394584.1:p.Ser715Phe
  • NP_001394585.1:p.Ser715Phe
  • NP_001394586.1:p.Ser715Phe
  • NP_001394587.1:p.Ser715Phe
  • NP_001394588.1:p.Ser714Phe
  • NP_001394589.1:p.Ser714Phe
  • NP_001394590.1:p.Ser714Phe
  • NP_001394591.1:p.Ser714Phe
  • NP_001394592.1:p.Ser715Phe
  • NP_001394593.1:p.Ser700Phe
  • NP_001394594.1:p.Ser700Phe
  • NP_001394595.1:p.Ser700Phe
  • NP_001394596.1:p.Ser700Phe
  • NP_001394597.1:p.Ser700Phe
  • NP_001394598.1:p.Ser700Phe
  • NP_001394599.1:p.Ser699Phe
  • NP_001394600.1:p.Ser699Phe
  • NP_001394601.1:p.Ser699Phe
  • NP_001394602.1:p.Ser699Phe
  • NP_001394603.1:p.Ser700Phe
  • NP_001394604.1:p.Ser700Phe
  • NP_001394605.1:p.Ser700Phe
  • NP_001394606.1:p.Ser700Phe
  • NP_001394607.1:p.Ser700Phe
  • NP_001394608.1:p.Ser700Phe
  • NP_001394609.1:p.Ser700Phe
  • NP_001394610.1:p.Ser700Phe
  • NP_001394611.1:p.Ser700Phe
  • NP_001394612.1:p.Ser700Phe
  • NP_001394613.1:p.Ser741Phe
  • NP_001394614.1:p.Ser699Phe
  • NP_001394615.1:p.Ser699Phe
  • NP_001394616.1:p.Ser699Phe
  • NP_001394617.1:p.Ser699Phe
  • NP_001394618.1:p.Ser699Phe
  • NP_001394619.1:p.Ser699Phe
  • NP_001394620.1:p.Ser699Phe
  • NP_001394621.1:p.Ser694Phe
  • NP_001394623.1:p.Ser694Phe
  • NP_001394624.1:p.Ser694Phe
  • NP_001394625.1:p.Ser694Phe
  • NP_001394626.1:p.Ser694Phe
  • NP_001394627.1:p.Ser694Phe
  • NP_001394653.1:p.Ser694Phe
  • NP_001394654.1:p.Ser694Phe
  • NP_001394655.1:p.Ser694Phe
  • NP_001394656.1:p.Ser694Phe
  • NP_001394657.1:p.Ser694Phe
  • NP_001394658.1:p.Ser694Phe
  • NP_001394659.1:p.Ser694Phe
  • NP_001394660.1:p.Ser694Phe
  • NP_001394661.1:p.Ser694Phe
  • NP_001394662.1:p.Ser694Phe
  • NP_001394663.1:p.Ser694Phe
  • NP_001394664.1:p.Ser694Phe
  • NP_001394665.1:p.Ser694Phe
  • NP_001394666.1:p.Ser694Phe
  • NP_001394667.1:p.Ser694Phe
  • NP_001394668.1:p.Ser694Phe
  • NP_001394669.1:p.Ser693Phe
  • NP_001394670.1:p.Ser693Phe
  • NP_001394671.1:p.Ser693Phe
  • NP_001394672.1:p.Ser693Phe
  • NP_001394673.1:p.Ser693Phe
  • NP_001394674.1:p.Ser693Phe
  • NP_001394675.1:p.Ser693Phe
  • NP_001394676.1:p.Ser693Phe
  • NP_001394677.1:p.Ser693Phe
  • NP_001394678.1:p.Ser693Phe
  • NP_001394679.1:p.Ser694Phe
  • NP_001394680.1:p.Ser694Phe
  • NP_001394681.1:p.Ser694Phe
  • NP_001394767.1:p.Ser693Phe
  • NP_001394768.1:p.Ser693Phe
  • NP_001394770.1:p.Ser693Phe
  • NP_001394771.1:p.Ser693Phe
  • NP_001394772.1:p.Ser693Phe
  • NP_001394773.1:p.Ser693Phe
  • NP_001394774.1:p.Ser693Phe
  • NP_001394775.1:p.Ser693Phe
  • NP_001394776.1:p.Ser693Phe
  • NP_001394777.1:p.Ser693Phe
  • NP_001394778.1:p.Ser693Phe
  • NP_001394779.1:p.Ser694Phe
  • NP_001394780.1:p.Ser694Phe
  • NP_001394781.1:p.Ser694Phe
  • NP_001394782.1:p.Ser670Phe
  • NP_001394783.1:p.Ser741Phe
  • NP_001394787.1:p.Ser741Phe
  • NP_001394788.1:p.Ser741Phe
  • NP_001394789.1:p.Ser740Phe
  • NP_001394790.1:p.Ser740Phe
  • NP_001394791.1:p.Ser674Phe
  • NP_001394792.1:p.Ser700Phe
  • NP_001394803.1:p.Ser673Phe
  • NP_001394804.1:p.Ser673Phe
  • NP_001394808.1:p.Ser671Phe
  • NP_001394810.1:p.Ser671Phe
  • NP_001394811.1:p.Ser671Phe
  • NP_001394813.1:p.Ser671Phe
  • NP_001394814.1:p.Ser671Phe
  • NP_001394815.1:p.Ser671Phe
  • NP_001394816.1:p.Ser671Phe
  • NP_001394818.1:p.Ser671Phe
  • NP_001394823.1:p.Ser670Phe
  • NP_001394824.1:p.Ser670Phe
  • NP_001394825.1:p.Ser670Phe
  • NP_001394826.1:p.Ser670Phe
  • NP_001394827.1:p.Ser670Phe
  • NP_001394828.1:p.Ser670Phe
  • NP_001394829.1:p.Ser671Phe
  • NP_001394831.1:p.Ser671Phe
  • NP_001394833.1:p.Ser671Phe
  • NP_001394835.1:p.Ser671Phe
  • NP_001394836.1:p.Ser671Phe
  • NP_001394837.1:p.Ser671Phe
  • NP_001394838.1:p.Ser671Phe
  • NP_001394839.1:p.Ser671Phe
  • NP_001394844.1:p.Ser670Phe
  • NP_001394845.1:p.Ser670Phe
  • NP_001394846.1:p.Ser670Phe
  • NP_001394847.1:p.Ser670Phe
  • NP_001394848.1:p.Ser700Phe
  • NP_001394849.1:p.Ser653Phe
  • NP_001394850.1:p.Ser653Phe
  • NP_001394851.1:p.Ser653Phe
  • NP_001394852.1:p.Ser653Phe
  • NP_001394853.1:p.Ser653Phe
  • NP_001394854.1:p.Ser653Phe
  • NP_001394855.1:p.Ser653Phe
  • NP_001394856.1:p.Ser653Phe
  • NP_001394857.1:p.Ser653Phe
  • NP_001394858.1:p.Ser653Phe
  • NP_001394859.1:p.Ser652Phe
  • NP_001394860.1:p.Ser652Phe
  • NP_001394861.1:p.Ser652Phe
  • NP_001394862.1:p.Ser653Phe
  • NP_001394863.1:p.Ser652Phe
  • NP_001394864.1:p.Ser653Phe
  • NP_001394865.1:p.Ser652Phe
  • NP_001394866.1:p.Ser700Phe
  • NP_001394867.1:p.Ser700Phe
  • NP_001394868.1:p.Ser700Phe
  • NP_001394869.1:p.Ser699Phe
  • NP_001394870.1:p.Ser699Phe
  • NP_001394871.1:p.Ser694Phe
  • NP_001394872.1:p.Ser693Phe
  • NP_001394873.1:p.Ser694Phe
  • NP_001394874.1:p.Ser694Phe
  • NP_001394875.1:p.Ser630Phe
  • NP_001394876.1:p.Ser630Phe
  • NP_001394877.1:p.Ser630Phe
  • NP_001394878.1:p.Ser630Phe
  • NP_001394879.1:p.Ser630Phe
  • NP_001394880.1:p.Ser630Phe
  • NP_001394881.1:p.Ser630Phe
  • NP_001394882.1:p.Ser630Phe
  • NP_001394883.1:p.Ser629Phe
  • NP_001394884.1:p.Ser629Phe
  • NP_001394885.1:p.Ser629Phe
  • NP_001394886.1:p.Ser630Phe
  • NP_001394887.1:p.Ser629Phe
  • NP_001394888.1:p.Ser614Phe
  • NP_001394889.1:p.Ser614Phe
  • NP_001394891.1:p.Ser613Phe
  • NP_001394892.1:p.Ser614Phe
  • NP_001394893.1:p.Ser693Phe
  • NP_001394894.1:p.Ser573Phe
  • NP_001394895.1:p.Ser445Phe
  • NP_001394896.1:p.Ser445Phe
  • NP_009225.1:p.Ser741Phe
  • NP_009225.1:p.Ser741Phe
  • NP_009228.2:p.Ser694Phe
  • NP_009231.2:p.Ser741Phe
  • LRG_292t1:c.2222C>T
  • LRG_292:g.124675C>T
  • LRG_292p1:p.Ser741Phe
  • NC_000017.10:g.41245326G>A
  • NM_007294.3:c.2222C>T
  • NR_027676.1:n.2358C>T
  • U14680.1:n.2341C>T
Protein change:
S445F
Links:
dbSNP: rs80357051
NCBI 1000 Genomes Browser:
rs80357051
Molecular consequence:
  • NM_001407968.1:c.788-1170C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.788-1170C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.787+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.787+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.784+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.787+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.787+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.787+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.787+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.787+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.787+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.787+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.787+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.787+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.787+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.787+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.784+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.784+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.784+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.787+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.784+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.784+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.787+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.784+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.784+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.784+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.784+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.784+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.784+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.784+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.784+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.787+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.787+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.790+1432C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.784+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.778+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.709+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.646+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.709+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.709+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.706+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.709+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.709+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.706+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-2277C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-2277C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-2277C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-2277C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-2277C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-2277C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-2277C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.664+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.664+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.664+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.664+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.664+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.664+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-2277C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.661+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.661+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.661+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.661+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.664+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.664+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.664+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.664+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.664+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.664+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.664+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.664+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.664+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.661+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.661+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.661+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.661+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.661+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.652+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.646+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.646+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.646+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.646+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.646+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.646+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.646+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.646+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.646+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.646+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.643+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.643+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.643+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.643+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.646+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.646+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.643+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.646+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.643+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.787+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.784+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.586+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.583+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.586+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.577+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.577+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.577+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.577+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.577+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.577+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.577+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.577+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.577+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.574+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.574+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.577+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.574+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-2277C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-2277C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.523+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.523+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.523+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.523+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.523+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.523+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.454+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.520+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.520+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.520+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-2277C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-2277C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.451+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.451+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.406+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-2277C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.283+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.577+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.577+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.787+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.787+1435C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.2009C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.2222C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.2222C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.2222C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.2222C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.2219C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.2219C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.2219C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.2222C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.2222C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.2222C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.2222C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.2222C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.2222C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.2222C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.2222C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.2219C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.2219C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.2219C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.2219C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.2219C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.2219C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.2222C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.2222C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.2222C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.2222C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.2222C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.2222C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.2222C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.2222C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.2222C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.2222C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.2222C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.2219C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.2219C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.2219C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.2219C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.2219C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.2219C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.2219C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.2219C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.2219C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.2219C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.2219C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.2219C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.2222C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.2222C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.2222C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.2222C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.2219C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.2219C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.2213C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.2213C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.2099C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.2096C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.2222C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.2144C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.2144C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.2144C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.2144C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.2144C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.2144C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.2141C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.2141C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.2141C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.2141C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.2144C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.2099C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.2099C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.2099C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.2099C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.2099C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.2099C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.2096C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.2096C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.2096C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.2096C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.2099C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.2099C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.2099C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.2099C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.2099C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.2099C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.2099C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.2099C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.2099C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.2099C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.2222C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.2096C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.2096C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.2096C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.2096C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.2096C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.2096C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.2096C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.2081C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.2081C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.2081C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.2081C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.2081C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.2081C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.2081C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.2081C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.2081C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.2081C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.2081C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.2081C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.2081C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.2081C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.2081C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.2081C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.2081C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.2081C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.2081C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.2081C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.2081C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.2081C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.2078C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.2078C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.2078C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.2078C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.2078C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.2078C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.2078C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.2078C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.2078C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.2078C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.2081C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.2081C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.2081C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.2078C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.2078C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.2078C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.2078C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.2078C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.2078C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.2078C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.2078C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.2078C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.2078C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.2078C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.2081C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.2081C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.2081C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.2009C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.2222C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.2222C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.2222C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.2219C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.2219C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.2021C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.2099C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.2018C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.2018C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.2012C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.2012C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.2012C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.2012C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.2012C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.2012C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.2012C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.2012C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.2009C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.2009C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.2009C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.2009C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.2009C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.2009C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.2012C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.2012C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.2012C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.2012C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.2012C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.2012C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.2012C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.2012C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.2009C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.2009C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.2009C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.2009C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.2099C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.1958C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.1958C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.1958C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.1958C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.1958C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.1958C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.1958C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.1958C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.1958C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.1958C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.1955C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.1955C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.1955C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.1958C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.1955C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.1958C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.1955C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.2099C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.2099C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.2099C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.2096C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.2096C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.2081C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.2078C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.2081C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.2081C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.1889C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.1889C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.1889C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.1889C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.1889C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.1889C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.1889C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.1889C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.1886C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.1886C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.1886C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.1889C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.1886C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.1841C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.1841C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.1838C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.1841C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.2078C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.1718C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.1334C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.1334C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.2222C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.2081C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.2222C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Name:
Breast-ovarian cancer, familial, susceptibility to, 1 (BROVCA1)
Synonyms:
OVARIAN CANCER, SUSCEPTIBILITY TO; 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
SCV000144347Breast Cancer Information Core (BIC) (BRCA1)
no assertion criteria provided
Uncertain significance
(Feb 20, 2004) 		germlineclinical testing

SCV000785935Counsyl
criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))		Uncertain significance
(Jan 16, 2018) 		unknownclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
Western European, French Canadiangermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Marsupial BRCA1: conserved regions in mammals and the potential effect of missense changes.

Ramirez CJ, Fleming MA, Potter JD, Ostrander GK, Ostrander EA.

Oncogene. 2004 Mar 4;23(9):1780-8.

PubMed [citation]
PMID:
15001988

Evaluation of BRCA1 and BRCA2 mutation prevalence, risk prediction models and a multistep testing approach in French-Canadian families with high risk of breast and ovarian cancer.

Simard J, Dumont M, Moisan AM, Gaborieau V, Malouin H, Durocher F, Chiquette J, Plante M, Avard D, Bessette P, Brousseau C, Dorval M, Godard B, Houde L; INHERIT BRCAs., Joly Y, Lajoie MA, Leblanc G, Lépine J, Lespérance B, Vézina H, Parboosingh J, et al.

J Med Genet. 2007 Feb;44(2):107-21. Epub 2006 Aug 11. Erratum in: J Med Genet. 2007 Jul;44(7):471.

PubMed [citation]
PMID:
16905680
PMCID:
PMC2598057
See all PubMed Citations (5)

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA1), SCV000144347.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
2Western European, French Canadian1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided
2germlineyesnot providednot providednot provided1not providednot providednot provided

From Counsyl, SCV000785935.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024