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NM_007294.4(BRCA1):c.2006T>C (p.Met669Thr) AND Familial cancer of breast

Germline classification:
Uncertain significance (1 submission)
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:
RCV002250471.9

Allele description [Variation Report for NM_007294.4(BRCA1):c.2006T>C (p.Met669Thr)]

NM_007294.4(BRCA1):c.2006T>C (p.Met669Thr)

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.2006T>C (p.Met669Thr)
HGVS:
  • NC_000017.11:g.43093525A>G
  • NG_005905.2:g.124459T>C
  • NM_001407571.1:c.1793T>C
  • NM_001407581.1:c.2006T>C
  • NM_001407582.1:c.2006T>C
  • NM_001407583.1:c.2006T>C
  • NM_001407585.1:c.2006T>C
  • NM_001407587.1:c.2003T>C
  • NM_001407590.1:c.2003T>C
  • NM_001407591.1:c.2003T>C
  • NM_001407593.1:c.2006T>C
  • NM_001407594.1:c.2006T>C
  • NM_001407596.1:c.2006T>C
  • NM_001407597.1:c.2006T>C
  • NM_001407598.1:c.2006T>C
  • NM_001407602.1:c.2006T>C
  • NM_001407603.1:c.2006T>C
  • NM_001407605.1:c.2006T>C
  • NM_001407610.1:c.2003T>C
  • NM_001407611.1:c.2003T>C
  • NM_001407612.1:c.2003T>C
  • NM_001407613.1:c.2003T>C
  • NM_001407614.1:c.2003T>C
  • NM_001407615.1:c.2003T>C
  • NM_001407616.1:c.2006T>C
  • NM_001407617.1:c.2006T>C
  • NM_001407618.1:c.2006T>C
  • NM_001407619.1:c.2006T>C
  • NM_001407620.1:c.2006T>C
  • NM_001407621.1:c.2006T>C
  • NM_001407622.1:c.2006T>C
  • NM_001407623.1:c.2006T>C
  • NM_001407624.1:c.2006T>C
  • NM_001407625.1:c.2006T>C
  • NM_001407626.1:c.2006T>C
  • NM_001407627.1:c.2003T>C
  • NM_001407628.1:c.2003T>C
  • NM_001407629.1:c.2003T>C
  • NM_001407630.1:c.2003T>C
  • NM_001407631.1:c.2003T>C
  • NM_001407632.1:c.2003T>C
  • NM_001407633.1:c.2003T>C
  • NM_001407634.1:c.2003T>C
  • NM_001407635.1:c.2003T>C
  • NM_001407636.1:c.2003T>C
  • NM_001407637.1:c.2003T>C
  • NM_001407638.1:c.2003T>C
  • NM_001407639.1:c.2006T>C
  • NM_001407640.1:c.2006T>C
  • NM_001407641.1:c.2006T>C
  • NM_001407642.1:c.2006T>C
  • NM_001407644.1:c.2003T>C
  • NM_001407645.1:c.2003T>C
  • NM_001407646.1:c.1997T>C
  • NM_001407647.1:c.1997T>C
  • NM_001407648.1:c.1883T>C
  • NM_001407649.1:c.1880T>C
  • NM_001407652.1:c.2006T>C
  • NM_001407653.1:c.1928T>C
  • NM_001407654.1:c.1928T>C
  • NM_001407655.1:c.1928T>C
  • NM_001407656.1:c.1928T>C
  • NM_001407657.1:c.1928T>C
  • NM_001407658.1:c.1928T>C
  • NM_001407659.1:c.1925T>C
  • NM_001407660.1:c.1925T>C
  • NM_001407661.1:c.1925T>C
  • NM_001407662.1:c.1925T>C
  • NM_001407663.1:c.1928T>C
  • NM_001407664.1:c.1883T>C
  • NM_001407665.1:c.1883T>C
  • NM_001407666.1:c.1883T>C
  • NM_001407667.1:c.1883T>C
  • NM_001407668.1:c.1883T>C
  • NM_001407669.1:c.1883T>C
  • NM_001407670.1:c.1880T>C
  • NM_001407671.1:c.1880T>C
  • NM_001407672.1:c.1880T>C
  • NM_001407673.1:c.1880T>C
  • NM_001407674.1:c.1883T>C
  • NM_001407675.1:c.1883T>C
  • NM_001407676.1:c.1883T>C
  • NM_001407677.1:c.1883T>C
  • NM_001407678.1:c.1883T>C
  • NM_001407679.1:c.1883T>C
  • NM_001407680.1:c.1883T>C
  • NM_001407681.1:c.1883T>C
  • NM_001407682.1:c.1883T>C
  • NM_001407683.1:c.1883T>C
  • NM_001407684.1:c.2006T>C
  • NM_001407685.1:c.1880T>C
  • NM_001407686.1:c.1880T>C
  • NM_001407687.1:c.1880T>C
  • NM_001407688.1:c.1880T>C
  • NM_001407689.1:c.1880T>C
  • NM_001407690.1:c.1880T>C
  • NM_001407691.1:c.1880T>C
  • NM_001407692.1:c.1865T>C
  • NM_001407694.1:c.1865T>C
  • NM_001407695.1:c.1865T>C
  • NM_001407696.1:c.1865T>C
  • NM_001407697.1:c.1865T>C
  • NM_001407698.1:c.1865T>C
  • NM_001407724.1:c.1865T>C
  • NM_001407725.1:c.1865T>C
  • NM_001407726.1:c.1865T>C
  • NM_001407727.1:c.1865T>C
  • NM_001407728.1:c.1865T>C
  • NM_001407729.1:c.1865T>C
  • NM_001407730.1:c.1865T>C
  • NM_001407731.1:c.1865T>C
  • NM_001407732.1:c.1865T>C
  • NM_001407733.1:c.1865T>C
  • NM_001407734.1:c.1865T>C
  • NM_001407735.1:c.1865T>C
  • NM_001407736.1:c.1865T>C
  • NM_001407737.1:c.1865T>C
  • NM_001407738.1:c.1865T>C
  • NM_001407739.1:c.1865T>C
  • NM_001407740.1:c.1862T>C
  • NM_001407741.1:c.1862T>C
  • NM_001407742.1:c.1862T>C
  • NM_001407743.1:c.1862T>C
  • NM_001407744.1:c.1862T>C
  • NM_001407745.1:c.1862T>C
  • NM_001407746.1:c.1862T>C
  • NM_001407747.1:c.1862T>C
  • NM_001407748.1:c.1862T>C
  • NM_001407749.1:c.1862T>C
  • NM_001407750.1:c.1865T>C
  • NM_001407751.1:c.1865T>C
  • NM_001407752.1:c.1865T>C
  • NM_001407838.1:c.1862T>C
  • NM_001407839.1:c.1862T>C
  • NM_001407841.1:c.1862T>C
  • NM_001407842.1:c.1862T>C
  • NM_001407843.1:c.1862T>C
  • NM_001407844.1:c.1862T>C
  • NM_001407845.1:c.1862T>C
  • NM_001407846.1:c.1862T>C
  • NM_001407847.1:c.1862T>C
  • NM_001407848.1:c.1862T>C
  • NM_001407849.1:c.1862T>C
  • NM_001407850.1:c.1865T>C
  • NM_001407851.1:c.1865T>C
  • NM_001407852.1:c.1865T>C
  • NM_001407853.1:c.1793T>C
  • NM_001407854.1:c.2006T>C
  • NM_001407858.1:c.2006T>C
  • NM_001407859.1:c.2006T>C
  • NM_001407860.1:c.2003T>C
  • NM_001407861.1:c.2003T>C
  • NM_001407862.1:c.1805T>C
  • NM_001407863.1:c.1883T>C
  • NM_001407874.1:c.1802T>C
  • NM_001407875.1:c.1802T>C
  • NM_001407879.1:c.1796T>C
  • NM_001407881.1:c.1796T>C
  • NM_001407882.1:c.1796T>C
  • NM_001407884.1:c.1796T>C
  • NM_001407885.1:c.1796T>C
  • NM_001407886.1:c.1796T>C
  • NM_001407887.1:c.1796T>C
  • NM_001407889.1:c.1796T>C
  • NM_001407894.1:c.1793T>C
  • NM_001407895.1:c.1793T>C
  • NM_001407896.1:c.1793T>C
  • NM_001407897.1:c.1793T>C
  • NM_001407898.1:c.1793T>C
  • NM_001407899.1:c.1793T>C
  • NM_001407900.1:c.1796T>C
  • NM_001407902.1:c.1796T>C
  • NM_001407904.1:c.1796T>C
  • NM_001407906.1:c.1796T>C
  • NM_001407907.1:c.1796T>C
  • NM_001407908.1:c.1796T>C
  • NM_001407909.1:c.1796T>C
  • NM_001407910.1:c.1796T>C
  • NM_001407915.1:c.1793T>C
  • NM_001407916.1:c.1793T>C
  • NM_001407917.1:c.1793T>C
  • NM_001407918.1:c.1793T>C
  • NM_001407919.1:c.1883T>C
  • NM_001407920.1:c.1742T>C
  • NM_001407921.1:c.1742T>C
  • NM_001407922.1:c.1742T>C
  • NM_001407923.1:c.1742T>C
  • NM_001407924.1:c.1742T>C
  • NM_001407925.1:c.1742T>C
  • NM_001407926.1:c.1742T>C
  • NM_001407927.1:c.1742T>C
  • NM_001407928.1:c.1742T>C
  • NM_001407929.1:c.1742T>C
  • NM_001407930.1:c.1739T>C
  • NM_001407931.1:c.1739T>C
  • NM_001407932.1:c.1739T>C
  • NM_001407933.1:c.1742T>C
  • NM_001407934.1:c.1739T>C
  • NM_001407935.1:c.1742T>C
  • NM_001407936.1:c.1739T>C
  • NM_001407937.1:c.1883T>C
  • NM_001407938.1:c.1883T>C
  • NM_001407939.1:c.1883T>C
  • NM_001407940.1:c.1880T>C
  • NM_001407941.1:c.1880T>C
  • NM_001407942.1:c.1865T>C
  • NM_001407943.1:c.1862T>C
  • NM_001407944.1:c.1865T>C
  • NM_001407945.1:c.1865T>C
  • NM_001407946.1:c.1673T>C
  • NM_001407947.1:c.1673T>C
  • NM_001407948.1:c.1673T>C
  • NM_001407949.1:c.1673T>C
  • NM_001407950.1:c.1673T>C
  • NM_001407951.1:c.1673T>C
  • NM_001407952.1:c.1673T>C
  • NM_001407953.1:c.1673T>C
  • NM_001407954.1:c.1670T>C
  • NM_001407955.1:c.1670T>C
  • NM_001407956.1:c.1670T>C
  • NM_001407957.1:c.1673T>C
  • NM_001407958.1:c.1670T>C
  • NM_001407959.1:c.1625T>C
  • NM_001407960.1:c.1625T>C
  • NM_001407962.1:c.1622T>C
  • NM_001407963.1:c.1625T>C
  • NM_001407964.1:c.1862T>C
  • NM_001407965.1:c.1502T>C
  • NM_001407966.1:c.1118T>C
  • NM_001407967.1:c.1118T>C
  • NM_001407968.1:c.787+1219T>C
  • NM_001407969.1:c.787+1219T>C
  • NM_001407970.1:c.787+1219T>C
  • NM_001407971.1:c.787+1219T>C
  • NM_001407972.1:c.784+1219T>C
  • NM_001407973.1:c.787+1219T>C
  • NM_001407974.1:c.787+1219T>C
  • NM_001407975.1:c.787+1219T>C
  • NM_001407976.1:c.787+1219T>C
  • NM_001407977.1:c.787+1219T>C
  • NM_001407978.1:c.787+1219T>C
  • NM_001407979.1:c.787+1219T>C
  • NM_001407980.1:c.787+1219T>C
  • NM_001407981.1:c.787+1219T>C
  • NM_001407982.1:c.787+1219T>C
  • NM_001407983.1:c.787+1219T>C
  • NM_001407984.1:c.784+1219T>C
  • NM_001407985.1:c.784+1219T>C
  • NM_001407986.1:c.784+1219T>C
  • NM_001407990.1:c.787+1219T>C
  • NM_001407991.1:c.784+1219T>C
  • NM_001407992.1:c.784+1219T>C
  • NM_001407993.1:c.787+1219T>C
  • NM_001408392.1:c.784+1219T>C
  • NM_001408396.1:c.784+1219T>C
  • NM_001408397.1:c.784+1219T>C
  • NM_001408398.1:c.784+1219T>C
  • NM_001408399.1:c.784+1219T>C
  • NM_001408400.1:c.784+1219T>C
  • NM_001408401.1:c.784+1219T>C
  • NM_001408402.1:c.784+1219T>C
  • NM_001408403.1:c.787+1219T>C
  • NM_001408404.1:c.787+1219T>C
  • NM_001408406.1:c.790+1216T>C
  • NM_001408407.1:c.784+1219T>C
  • NM_001408408.1:c.778+1219T>C
  • NM_001408409.1:c.709+1219T>C
  • NM_001408410.1:c.646+1219T>C
  • NM_001408411.1:c.709+1219T>C
  • NM_001408412.1:c.709+1219T>C
  • NM_001408413.1:c.706+1219T>C
  • NM_001408414.1:c.709+1219T>C
  • NM_001408415.1:c.709+1219T>C
  • NM_001408416.1:c.706+1219T>C
  • NM_001408418.1:c.670+2321T>C
  • NM_001408419.1:c.670+2321T>C
  • NM_001408420.1:c.670+2321T>C
  • NM_001408421.1:c.667+2321T>C
  • NM_001408422.1:c.670+2321T>C
  • NM_001408423.1:c.670+2321T>C
  • NM_001408424.1:c.667+2321T>C
  • NM_001408425.1:c.664+1219T>C
  • NM_001408426.1:c.664+1219T>C
  • NM_001408427.1:c.664+1219T>C
  • NM_001408428.1:c.664+1219T>C
  • NM_001408429.1:c.664+1219T>C
  • NM_001408430.1:c.664+1219T>C
  • NM_001408431.1:c.667+2321T>C
  • NM_001408432.1:c.661+1219T>C
  • NM_001408433.1:c.661+1219T>C
  • NM_001408434.1:c.661+1219T>C
  • NM_001408435.1:c.661+1219T>C
  • NM_001408436.1:c.664+1219T>C
  • NM_001408437.1:c.664+1219T>C
  • NM_001408438.1:c.664+1219T>C
  • NM_001408439.1:c.664+1219T>C
  • NM_001408440.1:c.664+1219T>C
  • NM_001408441.1:c.664+1219T>C
  • NM_001408442.1:c.664+1219T>C
  • NM_001408443.1:c.664+1219T>C
  • NM_001408444.1:c.664+1219T>C
  • NM_001408445.1:c.661+1219T>C
  • NM_001408446.1:c.661+1219T>C
  • NM_001408447.1:c.661+1219T>C
  • NM_001408448.1:c.661+1219T>C
  • NM_001408450.1:c.661+1219T>C
  • NM_001408451.1:c.652+1219T>C
  • NM_001408452.1:c.646+1219T>C
  • NM_001408453.1:c.646+1219T>C
  • NM_001408454.1:c.646+1219T>C
  • NM_001408455.1:c.646+1219T>C
  • NM_001408456.1:c.646+1219T>C
  • NM_001408457.1:c.646+1219T>C
  • NM_001408458.1:c.646+1219T>C
  • NM_001408459.1:c.646+1219T>C
  • NM_001408460.1:c.646+1219T>C
  • NM_001408461.1:c.646+1219T>C
  • NM_001408462.1:c.643+1219T>C
  • NM_001408463.1:c.643+1219T>C
  • NM_001408464.1:c.643+1219T>C
  • NM_001408465.1:c.643+1219T>C
  • NM_001408466.1:c.646+1219T>C
  • NM_001408467.1:c.646+1219T>C
  • NM_001408468.1:c.643+1219T>C
  • NM_001408469.1:c.646+1219T>C
  • NM_001408470.1:c.643+1219T>C
  • NM_001408472.1:c.787+1219T>C
  • NM_001408473.1:c.784+1219T>C
  • NM_001408474.1:c.586+1219T>C
  • NM_001408475.1:c.583+1219T>C
  • NM_001408476.1:c.586+1219T>C
  • NM_001408478.1:c.577+1219T>C
  • NM_001408479.1:c.577+1219T>C
  • NM_001408480.1:c.577+1219T>C
  • NM_001408481.1:c.577+1219T>C
  • NM_001408482.1:c.577+1219T>C
  • NM_001408483.1:c.577+1219T>C
  • NM_001408484.1:c.577+1219T>C
  • NM_001408485.1:c.577+1219T>C
  • NM_001408489.1:c.577+1219T>C
  • NM_001408490.1:c.574+1219T>C
  • NM_001408491.1:c.574+1219T>C
  • NM_001408492.1:c.577+1219T>C
  • NM_001408493.1:c.574+1219T>C
  • NM_001408494.1:c.548-2493T>C
  • NM_001408495.1:c.545-2493T>C
  • NM_001408496.1:c.523+1219T>C
  • NM_001408497.1:c.523+1219T>C
  • NM_001408498.1:c.523+1219T>C
  • NM_001408499.1:c.523+1219T>C
  • NM_001408500.1:c.523+1219T>C
  • NM_001408501.1:c.523+1219T>C
  • NM_001408502.1:c.454+1219T>C
  • NM_001408503.1:c.520+1219T>C
  • NM_001408504.1:c.520+1219T>C
  • NM_001408505.1:c.520+1219T>C
  • NM_001408506.1:c.460+2321T>C
  • NM_001408507.1:c.460+2321T>C
  • NM_001408508.1:c.451+1219T>C
  • NM_001408509.1:c.451+1219T>C
  • NM_001408510.1:c.406+1219T>C
  • NM_001408511.1:c.404-2493T>C
  • NM_001408512.1:c.283+1219T>C
  • NM_001408513.1:c.577+1219T>C
  • NM_001408514.1:c.577+1219T>C
  • NM_007294.4:c.2006T>CMANE SELECT
  • NM_007297.4:c.1865T>C
  • NM_007298.4:c.787+1219T>C
  • NM_007299.4:c.787+1219T>C
  • NM_007300.4:c.2006T>C
  • NP_001394500.1:p.Met598Thr
  • NP_001394510.1:p.Met669Thr
  • NP_001394511.1:p.Met669Thr
  • NP_001394512.1:p.Met669Thr
  • NP_001394514.1:p.Met669Thr
  • NP_001394516.1:p.Met668Thr
  • NP_001394519.1:p.Met668Thr
  • NP_001394520.1:p.Met668Thr
  • NP_001394522.1:p.Met669Thr
  • NP_001394523.1:p.Met669Thr
  • NP_001394525.1:p.Met669Thr
  • NP_001394526.1:p.Met669Thr
  • NP_001394527.1:p.Met669Thr
  • NP_001394531.1:p.Met669Thr
  • NP_001394532.1:p.Met669Thr
  • NP_001394534.1:p.Met669Thr
  • NP_001394539.1:p.Met668Thr
  • NP_001394540.1:p.Met668Thr
  • NP_001394541.1:p.Met668Thr
  • NP_001394542.1:p.Met668Thr
  • NP_001394543.1:p.Met668Thr
  • NP_001394544.1:p.Met668Thr
  • NP_001394545.1:p.Met669Thr
  • NP_001394546.1:p.Met669Thr
  • NP_001394547.1:p.Met669Thr
  • NP_001394548.1:p.Met669Thr
  • NP_001394549.1:p.Met669Thr
  • NP_001394550.1:p.Met669Thr
  • NP_001394551.1:p.Met669Thr
  • NP_001394552.1:p.Met669Thr
  • NP_001394553.1:p.Met669Thr
  • NP_001394554.1:p.Met669Thr
  • NP_001394555.1:p.Met669Thr
  • NP_001394556.1:p.Met668Thr
  • NP_001394557.1:p.Met668Thr
  • NP_001394558.1:p.Met668Thr
  • NP_001394559.1:p.Met668Thr
  • NP_001394560.1:p.Met668Thr
  • NP_001394561.1:p.Met668Thr
  • NP_001394562.1:p.Met668Thr
  • NP_001394563.1:p.Met668Thr
  • NP_001394564.1:p.Met668Thr
  • NP_001394565.1:p.Met668Thr
  • NP_001394566.1:p.Met668Thr
  • NP_001394567.1:p.Met668Thr
  • NP_001394568.1:p.Met669Thr
  • NP_001394569.1:p.Met669Thr
  • NP_001394570.1:p.Met669Thr
  • NP_001394571.1:p.Met669Thr
  • NP_001394573.1:p.Met668Thr
  • NP_001394574.1:p.Met668Thr
  • NP_001394575.1:p.Met666Thr
  • NP_001394576.1:p.Met666Thr
  • NP_001394577.1:p.Met628Thr
  • NP_001394578.1:p.Met627Thr
  • NP_001394581.1:p.Met669Thr
  • NP_001394582.1:p.Met643Thr
  • NP_001394583.1:p.Met643Thr
  • NP_001394584.1:p.Met643Thr
  • NP_001394585.1:p.Met643Thr
  • NP_001394586.1:p.Met643Thr
  • NP_001394587.1:p.Met643Thr
  • NP_001394588.1:p.Met642Thr
  • NP_001394589.1:p.Met642Thr
  • NP_001394590.1:p.Met642Thr
  • NP_001394591.1:p.Met642Thr
  • NP_001394592.1:p.Met643Thr
  • NP_001394593.1:p.Met628Thr
  • NP_001394594.1:p.Met628Thr
  • NP_001394595.1:p.Met628Thr
  • NP_001394596.1:p.Met628Thr
  • NP_001394597.1:p.Met628Thr
  • NP_001394598.1:p.Met628Thr
  • NP_001394599.1:p.Met627Thr
  • NP_001394600.1:p.Met627Thr
  • NP_001394601.1:p.Met627Thr
  • NP_001394602.1:p.Met627Thr
  • NP_001394603.1:p.Met628Thr
  • NP_001394604.1:p.Met628Thr
  • NP_001394605.1:p.Met628Thr
  • NP_001394606.1:p.Met628Thr
  • NP_001394607.1:p.Met628Thr
  • NP_001394608.1:p.Met628Thr
  • NP_001394609.1:p.Met628Thr
  • NP_001394610.1:p.Met628Thr
  • NP_001394611.1:p.Met628Thr
  • NP_001394612.1:p.Met628Thr
  • NP_001394613.1:p.Met669Thr
  • NP_001394614.1:p.Met627Thr
  • NP_001394615.1:p.Met627Thr
  • NP_001394616.1:p.Met627Thr
  • NP_001394617.1:p.Met627Thr
  • NP_001394618.1:p.Met627Thr
  • NP_001394619.1:p.Met627Thr
  • NP_001394620.1:p.Met627Thr
  • NP_001394621.1:p.Met622Thr
  • NP_001394623.1:p.Met622Thr
  • NP_001394624.1:p.Met622Thr
  • NP_001394625.1:p.Met622Thr
  • NP_001394626.1:p.Met622Thr
  • NP_001394627.1:p.Met622Thr
  • NP_001394653.1:p.Met622Thr
  • NP_001394654.1:p.Met622Thr
  • NP_001394655.1:p.Met622Thr
  • NP_001394656.1:p.Met622Thr
  • NP_001394657.1:p.Met622Thr
  • NP_001394658.1:p.Met622Thr
  • NP_001394659.1:p.Met622Thr
  • NP_001394660.1:p.Met622Thr
  • NP_001394661.1:p.Met622Thr
  • NP_001394662.1:p.Met622Thr
  • NP_001394663.1:p.Met622Thr
  • NP_001394664.1:p.Met622Thr
  • NP_001394665.1:p.Met622Thr
  • NP_001394666.1:p.Met622Thr
  • NP_001394667.1:p.Met622Thr
  • NP_001394668.1:p.Met622Thr
  • NP_001394669.1:p.Met621Thr
  • NP_001394670.1:p.Met621Thr
  • NP_001394671.1:p.Met621Thr
  • NP_001394672.1:p.Met621Thr
  • NP_001394673.1:p.Met621Thr
  • NP_001394674.1:p.Met621Thr
  • NP_001394675.1:p.Met621Thr
  • NP_001394676.1:p.Met621Thr
  • NP_001394677.1:p.Met621Thr
  • NP_001394678.1:p.Met621Thr
  • NP_001394679.1:p.Met622Thr
  • NP_001394680.1:p.Met622Thr
  • NP_001394681.1:p.Met622Thr
  • NP_001394767.1:p.Met621Thr
  • NP_001394768.1:p.Met621Thr
  • NP_001394770.1:p.Met621Thr
  • NP_001394771.1:p.Met621Thr
  • NP_001394772.1:p.Met621Thr
  • NP_001394773.1:p.Met621Thr
  • NP_001394774.1:p.Met621Thr
  • NP_001394775.1:p.Met621Thr
  • NP_001394776.1:p.Met621Thr
  • NP_001394777.1:p.Met621Thr
  • NP_001394778.1:p.Met621Thr
  • NP_001394779.1:p.Met622Thr
  • NP_001394780.1:p.Met622Thr
  • NP_001394781.1:p.Met622Thr
  • NP_001394782.1:p.Met598Thr
  • NP_001394783.1:p.Met669Thr
  • NP_001394787.1:p.Met669Thr
  • NP_001394788.1:p.Met669Thr
  • NP_001394789.1:p.Met668Thr
  • NP_001394790.1:p.Met668Thr
  • NP_001394791.1:p.Met602Thr
  • NP_001394792.1:p.Met628Thr
  • NP_001394803.1:p.Met601Thr
  • NP_001394804.1:p.Met601Thr
  • NP_001394808.1:p.Met599Thr
  • NP_001394810.1:p.Met599Thr
  • NP_001394811.1:p.Met599Thr
  • NP_001394813.1:p.Met599Thr
  • NP_001394814.1:p.Met599Thr
  • NP_001394815.1:p.Met599Thr
  • NP_001394816.1:p.Met599Thr
  • NP_001394818.1:p.Met599Thr
  • NP_001394823.1:p.Met598Thr
  • NP_001394824.1:p.Met598Thr
  • NP_001394825.1:p.Met598Thr
  • NP_001394826.1:p.Met598Thr
  • NP_001394827.1:p.Met598Thr
  • NP_001394828.1:p.Met598Thr
  • NP_001394829.1:p.Met599Thr
  • NP_001394831.1:p.Met599Thr
  • NP_001394833.1:p.Met599Thr
  • NP_001394835.1:p.Met599Thr
  • NP_001394836.1:p.Met599Thr
  • NP_001394837.1:p.Met599Thr
  • NP_001394838.1:p.Met599Thr
  • NP_001394839.1:p.Met599Thr
  • NP_001394844.1:p.Met598Thr
  • NP_001394845.1:p.Met598Thr
  • NP_001394846.1:p.Met598Thr
  • NP_001394847.1:p.Met598Thr
  • NP_001394848.1:p.Met628Thr
  • NP_001394849.1:p.Met581Thr
  • NP_001394850.1:p.Met581Thr
  • NP_001394851.1:p.Met581Thr
  • NP_001394852.1:p.Met581Thr
  • NP_001394853.1:p.Met581Thr
  • NP_001394854.1:p.Met581Thr
  • NP_001394855.1:p.Met581Thr
  • NP_001394856.1:p.Met581Thr
  • NP_001394857.1:p.Met581Thr
  • NP_001394858.1:p.Met581Thr
  • NP_001394859.1:p.Met580Thr
  • NP_001394860.1:p.Met580Thr
  • NP_001394861.1:p.Met580Thr
  • NP_001394862.1:p.Met581Thr
  • NP_001394863.1:p.Met580Thr
  • NP_001394864.1:p.Met581Thr
  • NP_001394865.1:p.Met580Thr
  • NP_001394866.1:p.Met628Thr
  • NP_001394867.1:p.Met628Thr
  • NP_001394868.1:p.Met628Thr
  • NP_001394869.1:p.Met627Thr
  • NP_001394870.1:p.Met627Thr
  • NP_001394871.1:p.Met622Thr
  • NP_001394872.1:p.Met621Thr
  • NP_001394873.1:p.Met622Thr
  • NP_001394874.1:p.Met622Thr
  • NP_001394875.1:p.Met558Thr
  • NP_001394876.1:p.Met558Thr
  • NP_001394877.1:p.Met558Thr
  • NP_001394878.1:p.Met558Thr
  • NP_001394879.1:p.Met558Thr
  • NP_001394880.1:p.Met558Thr
  • NP_001394881.1:p.Met558Thr
  • NP_001394882.1:p.Met558Thr
  • NP_001394883.1:p.Met557Thr
  • NP_001394884.1:p.Met557Thr
  • NP_001394885.1:p.Met557Thr
  • NP_001394886.1:p.Met558Thr
  • NP_001394887.1:p.Met557Thr
  • NP_001394888.1:p.Met542Thr
  • NP_001394889.1:p.Met542Thr
  • NP_001394891.1:p.Met541Thr
  • NP_001394892.1:p.Met542Thr
  • NP_001394893.1:p.Met621Thr
  • NP_001394894.1:p.Met501Thr
  • NP_001394895.1:p.Met373Thr
  • NP_001394896.1:p.Met373Thr
  • NP_009225.1:p.Met669Thr
  • NP_009225.1:p.Met669Thr
  • NP_009228.2:p.Met622Thr
  • NP_009231.2:p.Met669Thr
  • LRG_292t1:c.2006T>C
  • LRG_292:g.124459T>C
  • LRG_292p1:p.Met669Thr
  • NC_000017.10:g.41245542A>G
  • NM_007294.3:c.2006T>C
  • NR_027676.1:n.2142T>C
  • U14680.1:n.2125T>C
  • p.M669T
Nucleotide change:
2125T>C
Protein change:
M373T
Links:
dbSNP: rs80356895
NCBI 1000 Genomes Browser:
rs80356895
Molecular consequence:
  • NM_001407968.1:c.787+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.787+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.787+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.787+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.784+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.787+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.787+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.787+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.787+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.787+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.787+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.787+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.787+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.787+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.787+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.787+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.784+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.784+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.784+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.787+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.784+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.784+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.787+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.784+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.784+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.784+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.784+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.784+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.784+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.784+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.784+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.787+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.787+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.790+1216T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.784+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.778+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.709+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.646+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.709+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.709+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.706+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.709+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.709+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.706+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.670+2321T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.670+2321T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.670+2321T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.667+2321T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.670+2321T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.670+2321T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.667+2321T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.664+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.664+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.664+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.664+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.664+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.664+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.667+2321T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.661+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.661+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.661+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.661+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.664+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.664+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.664+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.664+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.664+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.664+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.664+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.664+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.664+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.661+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.661+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.661+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.661+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.661+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.652+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.646+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.646+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.646+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.646+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.646+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.646+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.646+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.646+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.646+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.646+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.643+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.643+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.643+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.643+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.646+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.646+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.643+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.646+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.643+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.787+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.784+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.586+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.583+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.586+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.577+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.577+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.577+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.577+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.577+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.577+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.577+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.577+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.577+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.574+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.574+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.577+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.574+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-2493T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-2493T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.523+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.523+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.523+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.523+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.523+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.523+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.454+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.520+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.520+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.520+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.460+2321T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.460+2321T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.451+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.451+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.406+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-2493T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.283+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.577+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.577+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.787+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.787+1219T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.1793T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.2006T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.2006T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.2006T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.2006T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.2003T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.2003T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.2003T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.2006T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.2006T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.2006T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.2006T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.2006T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.2006T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.2006T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.2006T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.2003T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.2003T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.2003T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.2003T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.2003T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.2003T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.2006T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.2006T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.2006T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.2006T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.2006T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.2006T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.2006T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.2006T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.2006T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.2006T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.2006T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.2003T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.2003T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.2003T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.2003T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.2003T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.2003T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.2003T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.2003T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.2003T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.2003T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.2003T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.2003T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.2006T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.2006T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.2006T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.2006T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.2003T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.2003T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.1997T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.1997T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.1883T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.1880T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.2006T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.1928T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.1928T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.1928T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.1928T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.1928T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.1928T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.1925T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.1925T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.1925T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.1925T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.1928T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.1883T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.1883T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.1883T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.1883T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.1883T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.1883T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.1880T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.1880T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.1880T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.1880T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.1883T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.1883T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.1883T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.1883T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.1883T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.1883T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.1883T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.1883T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.1883T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.1883T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.2006T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.1880T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.1880T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.1880T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.1880T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.1880T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.1880T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.1880T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.1865T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.1865T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.1865T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.1865T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.1865T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.1865T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.1865T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.1865T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.1865T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.1865T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.1865T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.1865T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.1865T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.1865T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.1865T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.1865T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.1865T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.1865T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.1865T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.1865T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.1865T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.1865T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.1862T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.1862T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.1862T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.1862T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.1862T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.1862T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.1862T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.1862T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.1862T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.1862T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.1865T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.1865T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.1865T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.1862T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.1862T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.1862T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.1862T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.1862T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.1862T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.1862T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.1862T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.1862T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.1862T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.1862T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.1865T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.1865T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.1865T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.1793T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.2006T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.2006T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.2006T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.2003T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.2003T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.1805T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.1883T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.1802T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.1802T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.1796T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.1796T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.1796T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.1796T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.1796T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.1796T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.1796T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.1796T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.1793T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.1793T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.1793T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.1793T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.1793T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.1793T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.1796T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.1796T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.1796T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.1796T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.1796T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.1796T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.1796T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.1796T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.1793T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.1793T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.1793T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.1793T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.1883T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.1742T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.1742T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.1742T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.1742T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.1742T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.1742T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.1742T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.1742T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.1742T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.1742T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.1739T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.1739T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.1739T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.1742T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.1739T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.1742T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.1739T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.1883T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.1883T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.1883T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.1880T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.1880T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.1865T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.1862T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.1865T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.1865T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.1673T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.1673T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.1673T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.1673T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.1673T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.1673T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.1673T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.1673T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.1670T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.1670T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.1670T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.1673T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.1670T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.1625T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.1625T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.1622T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.1625T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.1862T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.1502T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.1118T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.1118T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.2006T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.1865T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.2006T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Familial cancer of breast
Synonyms:
Breast cancer, familial; Hereditary breast cancer
Identifiers:
MONDO: MONDO:0016419; MedGen: C0346153; OMIM: 114480

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002520891Center for Precision Medicine, Meizhou People's Hospital
no assertion criteria provided
Uncertain significancegermlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Prevalence of BRCA1 gene mutation in breast cancer patients in Guangxi, China.

Sun L, Liu J, Wang S, Chen Y, Li Z.

Int J Clin Exp Pathol. 2014;7(9):6262-9.

PubMed [citation]
PMID:
25337278
PMCID:
PMC4203249

Details of each submission

From Center for Precision Medicine, Meizhou People's Hospital, SCV002520891.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024