U.S. flag

An official website of the United States government

NM_007294.4(BRCA1):c.4883T>C (p.Met1628Thr) AND not provided

Germline classification:
Benign/Likely benign (3 submissions)
Last evaluated:
Apr 1, 2024
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000034754.35

Allele description [Variation Report for NM_007294.4(BRCA1):c.4883T>C (p.Met1628Thr)]

NM_007294.4(BRCA1):c.4883T>C (p.Met1628Thr)

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.4883T>C (p.Met1628Thr)
Other names:
5002T>C; NP_009225.1:p.Met1628Thr
HGVS:
  • NC_000017.11:g.43071031A>G
  • NG_005905.2:g.146953T>C
  • NM_001407571.1:c.4670T>C
  • NM_001407581.1:c.4949T>C
  • NM_001407582.1:c.4949T>C
  • NM_001407583.1:c.4946T>C
  • NM_001407585.1:c.4946T>C
  • NM_001407587.1:c.4946T>C
  • NM_001407590.1:c.4943T>C
  • NM_001407591.1:c.4943T>C
  • NM_001407593.1:c.4883T>C
  • NM_001407594.1:c.4883T>C
  • NM_001407596.1:c.4883T>C
  • NM_001407597.1:c.4883T>C
  • NM_001407598.1:c.4883T>C
  • NM_001407602.1:c.4883T>C
  • NM_001407603.1:c.4883T>C
  • NM_001407605.1:c.4883T>C
  • NM_001407610.1:c.4880T>C
  • NM_001407611.1:c.4880T>C
  • NM_001407612.1:c.4880T>C
  • NM_001407613.1:c.4880T>C
  • NM_001407614.1:c.4880T>C
  • NM_001407615.1:c.4880T>C
  • NM_001407616.1:c.4880T>C
  • NM_001407617.1:c.4880T>C
  • NM_001407618.1:c.4880T>C
  • NM_001407619.1:c.4880T>C
  • NM_001407620.1:c.4880T>C
  • NM_001407621.1:c.4880T>C
  • NM_001407622.1:c.4880T>C
  • NM_001407623.1:c.4880T>C
  • NM_001407624.1:c.4880T>C
  • NM_001407625.1:c.4880T>C
  • NM_001407626.1:c.4880T>C
  • NM_001407627.1:c.4877T>C
  • NM_001407628.1:c.4877T>C
  • NM_001407629.1:c.4877T>C
  • NM_001407630.1:c.4877T>C
  • NM_001407631.1:c.4877T>C
  • NM_001407632.1:c.4877T>C
  • NM_001407633.1:c.4877T>C
  • NM_001407634.1:c.4877T>C
  • NM_001407635.1:c.4877T>C
  • NM_001407636.1:c.4877T>C
  • NM_001407637.1:c.4877T>C
  • NM_001407638.1:c.4877T>C
  • NM_001407639.1:c.4877T>C
  • NM_001407640.1:c.4877T>C
  • NM_001407641.1:c.4877T>C
  • NM_001407642.1:c.4877T>C
  • NM_001407644.1:c.4874T>C
  • NM_001407645.1:c.4874T>C
  • NM_001407646.1:c.4871T>C
  • NM_001407647.1:c.4868T>C
  • NM_001407648.1:c.4826T>C
  • NM_001407649.1:c.4823T>C
  • NM_001407652.1:c.4883T>C
  • NM_001407653.1:c.4805T>C
  • NM_001407654.1:c.4805T>C
  • NM_001407655.1:c.4805T>C
  • NM_001407656.1:c.4802T>C
  • NM_001407657.1:c.4802T>C
  • NM_001407658.1:c.4802T>C
  • NM_001407659.1:c.4799T>C
  • NM_001407660.1:c.4799T>C
  • NM_001407661.1:c.4799T>C
  • NM_001407662.1:c.4799T>C
  • NM_001407663.1:c.4799T>C
  • NM_001407664.1:c.4760T>C
  • NM_001407665.1:c.4760T>C
  • NM_001407666.1:c.4760T>C
  • NM_001407667.1:c.4760T>C
  • NM_001407668.1:c.4760T>C
  • NM_001407669.1:c.4760T>C
  • NM_001407670.1:c.4757T>C
  • NM_001407671.1:c.4757T>C
  • NM_001407672.1:c.4757T>C
  • NM_001407673.1:c.4757T>C
  • NM_001407674.1:c.4757T>C
  • NM_001407675.1:c.4757T>C
  • NM_001407676.1:c.4757T>C
  • NM_001407677.1:c.4757T>C
  • NM_001407678.1:c.4757T>C
  • NM_001407679.1:c.4757T>C
  • NM_001407680.1:c.4757T>C
  • NM_001407681.1:c.4754T>C
  • NM_001407682.1:c.4754T>C
  • NM_001407683.1:c.4754T>C
  • NM_001407684.1:c.4883T>C
  • NM_001407685.1:c.4754T>C
  • NM_001407686.1:c.4754T>C
  • NM_001407687.1:c.4754T>C
  • NM_001407688.1:c.4754T>C
  • NM_001407689.1:c.4754T>C
  • NM_001407690.1:c.4751T>C
  • NM_001407691.1:c.4751T>C
  • NM_001407692.1:c.4742T>C
  • NM_001407694.1:c.4742T>C
  • NM_001407695.1:c.4742T>C
  • NM_001407696.1:c.4742T>C
  • NM_001407697.1:c.4742T>C
  • NM_001407698.1:c.4742T>C
  • NM_001407724.1:c.4742T>C
  • NM_001407725.1:c.4742T>C
  • NM_001407726.1:c.4742T>C
  • NM_001407727.1:c.4742T>C
  • NM_001407728.1:c.4742T>C
  • NM_001407729.1:c.4742T>C
  • NM_001407730.1:c.4742T>C
  • NM_001407731.1:c.4742T>C
  • NM_001407732.1:c.4739T>C
  • NM_001407733.1:c.4739T>C
  • NM_001407734.1:c.4739T>C
  • NM_001407735.1:c.4739T>C
  • NM_001407736.1:c.4739T>C
  • NM_001407737.1:c.4739T>C
  • NM_001407738.1:c.4739T>C
  • NM_001407739.1:c.4739T>C
  • NM_001407740.1:c.4739T>C
  • NM_001407741.1:c.4739T>C
  • NM_001407742.1:c.4739T>C
  • NM_001407743.1:c.4739T>C
  • NM_001407744.1:c.4739T>C
  • NM_001407745.1:c.4739T>C
  • NM_001407746.1:c.4739T>C
  • NM_001407747.1:c.4739T>C
  • NM_001407748.1:c.4739T>C
  • NM_001407749.1:c.4739T>C
  • NM_001407750.1:c.4739T>C
  • NM_001407751.1:c.4739T>C
  • NM_001407752.1:c.4739T>C
  • NM_001407838.1:c.4736T>C
  • NM_001407839.1:c.4736T>C
  • NM_001407841.1:c.4736T>C
  • NM_001407842.1:c.4736T>C
  • NM_001407843.1:c.4736T>C
  • NM_001407844.1:c.4736T>C
  • NM_001407845.1:c.4736T>C
  • NM_001407846.1:c.4736T>C
  • NM_001407847.1:c.4736T>C
  • NM_001407848.1:c.4736T>C
  • NM_001407849.1:c.4736T>C
  • NM_001407850.1:c.4736T>C
  • NM_001407851.1:c.4736T>C
  • NM_001407852.1:c.4736T>C
  • NM_001407853.1:c.4736T>C
  • NM_001407854.1:c.4883T>C
  • NM_001407858.1:c.4880T>C
  • NM_001407859.1:c.4880T>C
  • NM_001407860.1:c.4880T>C
  • NM_001407861.1:c.4877T>C
  • NM_001407862.1:c.4682T>C
  • NM_001407863.1:c.4757T>C
  • NM_001407874.1:c.4676T>C
  • NM_001407875.1:c.4676T>C
  • NM_001407879.1:c.4673T>C
  • NM_001407881.1:c.4673T>C
  • NM_001407882.1:c.4673T>C
  • NM_001407884.1:c.4673T>C
  • NM_001407885.1:c.4673T>C
  • NM_001407886.1:c.4673T>C
  • NM_001407887.1:c.4673T>C
  • NM_001407889.1:c.4673T>C
  • NM_001407894.1:c.4670T>C
  • NM_001407895.1:c.4670T>C
  • NM_001407896.1:c.4670T>C
  • NM_001407897.1:c.4670T>C
  • NM_001407898.1:c.4670T>C
  • NM_001407899.1:c.4670T>C
  • NM_001407900.1:c.4670T>C
  • NM_001407902.1:c.4670T>C
  • NM_001407904.1:c.4670T>C
  • NM_001407906.1:c.4670T>C
  • NM_001407907.1:c.4670T>C
  • NM_001407908.1:c.4670T>C
  • NM_001407909.1:c.4670T>C
  • NM_001407910.1:c.4670T>C
  • NM_001407915.1:c.4667T>C
  • NM_001407916.1:c.4667T>C
  • NM_001407917.1:c.4667T>C
  • NM_001407918.1:c.4667T>C
  • NM_001407919.1:c.4760T>C
  • NM_001407920.1:c.4619T>C
  • NM_001407921.1:c.4619T>C
  • NM_001407922.1:c.4619T>C
  • NM_001407923.1:c.4619T>C
  • NM_001407924.1:c.4619T>C
  • NM_001407925.1:c.4619T>C
  • NM_001407926.1:c.4619T>C
  • NM_001407927.1:c.4616T>C
  • NM_001407928.1:c.4616T>C
  • NM_001407929.1:c.4616T>C
  • NM_001407930.1:c.4616T>C
  • NM_001407931.1:c.4616T>C
  • NM_001407932.1:c.4616T>C
  • NM_001407933.1:c.4616T>C
  • NM_001407934.1:c.4613T>C
  • NM_001407935.1:c.4613T>C
  • NM_001407936.1:c.4613T>C
  • NM_001407937.1:c.4760T>C
  • NM_001407938.1:c.4760T>C
  • NM_001407939.1:c.4757T>C
  • NM_001407940.1:c.4757T>C
  • NM_001407941.1:c.4754T>C
  • NM_001407942.1:c.4742T>C
  • NM_001407943.1:c.4739T>C
  • NM_001407944.1:c.4739T>C
  • NM_001407945.1:c.4739T>C
  • NM_001407946.1:c.4550T>C
  • NM_001407947.1:c.4550T>C
  • NM_001407948.1:c.4550T>C
  • NM_001407949.1:c.4550T>C
  • NM_001407950.1:c.4547T>C
  • NM_001407951.1:c.4547T>C
  • NM_001407952.1:c.4547T>C
  • NM_001407953.1:c.4547T>C
  • NM_001407954.1:c.4547T>C
  • NM_001407955.1:c.4547T>C
  • NM_001407956.1:c.4544T>C
  • NM_001407957.1:c.4544T>C
  • NM_001407958.1:c.4544T>C
  • NM_001407959.1:c.4502T>C
  • NM_001407960.1:c.4499T>C
  • NM_001407962.1:c.4499T>C
  • NM_001407963.1:c.4496T>C
  • NM_001407964.1:c.4421T>C
  • NM_001407965.1:c.4376T>C
  • NM_001407966.1:c.3995T>C
  • NM_001407967.1:c.3992T>C
  • NM_001407968.1:c.2279T>C
  • NM_001407969.1:c.2276T>C
  • NM_001407970.1:c.1640T>C
  • NM_001407971.1:c.1640T>C
  • NM_001407972.1:c.1637T>C
  • NM_001407973.1:c.1574T>C
  • NM_001407974.1:c.1574T>C
  • NM_001407975.1:c.1574T>C
  • NM_001407976.1:c.1574T>C
  • NM_001407977.1:c.1574T>C
  • NM_001407978.1:c.1574T>C
  • NM_001407979.1:c.1571T>C
  • NM_001407980.1:c.1571T>C
  • NM_001407981.1:c.1571T>C
  • NM_001407982.1:c.1571T>C
  • NM_001407983.1:c.1571T>C
  • NM_001407984.1:c.1571T>C
  • NM_001407985.1:c.1571T>C
  • NM_001407986.1:c.1571T>C
  • NM_001407990.1:c.1571T>C
  • NM_001407991.1:c.1571T>C
  • NM_001407992.1:c.1571T>C
  • NM_001407993.1:c.1571T>C
  • NM_001408392.1:c.1568T>C
  • NM_001408396.1:c.1568T>C
  • NM_001408397.1:c.1568T>C
  • NM_001408398.1:c.1568T>C
  • NM_001408399.1:c.1568T>C
  • NM_001408400.1:c.1568T>C
  • NM_001408401.1:c.1568T>C
  • NM_001408402.1:c.1568T>C
  • NM_001408403.1:c.1568T>C
  • NM_001408404.1:c.1568T>C
  • NM_001408406.1:c.1565T>C
  • NM_001408407.1:c.1565T>C
  • NM_001408408.1:c.1565T>C
  • NM_001408409.1:c.1562T>C
  • NM_001408410.1:c.1499T>C
  • NM_001408411.1:c.1496T>C
  • NM_001408412.1:c.1493T>C
  • NM_001408413.1:c.1493T>C
  • NM_001408414.1:c.1493T>C
  • NM_001408415.1:c.1493T>C
  • NM_001408416.1:c.1493T>C
  • NM_001408418.1:c.1457T>C
  • NM_001408419.1:c.1457T>C
  • NM_001408420.1:c.1457T>C
  • NM_001408421.1:c.1454T>C
  • NM_001408422.1:c.1454T>C
  • NM_001408423.1:c.1454T>C
  • NM_001408424.1:c.1454T>C
  • NM_001408425.1:c.1451T>C
  • NM_001408426.1:c.1451T>C
  • NM_001408427.1:c.1451T>C
  • NM_001408428.1:c.1451T>C
  • NM_001408429.1:c.1451T>C
  • NM_001408430.1:c.1451T>C
  • NM_001408431.1:c.1451T>C
  • NM_001408432.1:c.1448T>C
  • NM_001408433.1:c.1448T>C
  • NM_001408434.1:c.1448T>C
  • NM_001408435.1:c.1448T>C
  • NM_001408436.1:c.1448T>C
  • NM_001408437.1:c.1448T>C
  • NM_001408438.1:c.1448T>C
  • NM_001408439.1:c.1448T>C
  • NM_001408440.1:c.1448T>C
  • NM_001408441.1:c.1448T>C
  • NM_001408442.1:c.1448T>C
  • NM_001408443.1:c.1448T>C
  • NM_001408444.1:c.1448T>C
  • NM_001408445.1:c.1445T>C
  • NM_001408446.1:c.1445T>C
  • NM_001408447.1:c.1445T>C
  • NM_001408448.1:c.1445T>C
  • NM_001408450.1:c.1445T>C
  • NM_001408451.1:c.1439T>C
  • NM_001408452.1:c.1433T>C
  • NM_001408453.1:c.1433T>C
  • NM_001408454.1:c.1433T>C
  • NM_001408455.1:c.1433T>C
  • NM_001408456.1:c.1433T>C
  • NM_001408457.1:c.1433T>C
  • NM_001408458.1:c.1430T>C
  • NM_001408459.1:c.1430T>C
  • NM_001408460.1:c.1430T>C
  • NM_001408461.1:c.1430T>C
  • NM_001408462.1:c.1430T>C
  • NM_001408463.1:c.1430T>C
  • NM_001408464.1:c.1430T>C
  • NM_001408465.1:c.1430T>C
  • NM_001408466.1:c.1430T>C
  • NM_001408467.1:c.1430T>C
  • NM_001408468.1:c.1427T>C
  • NM_001408469.1:c.1427T>C
  • NM_001408470.1:c.1427T>C
  • NM_001408472.1:c.1571T>C
  • NM_001408473.1:c.1568T>C
  • NM_001408474.1:c.1373T>C
  • NM_001408475.1:c.1370T>C
  • NM_001408476.1:c.1370T>C
  • NM_001408478.1:c.1364T>C
  • NM_001408479.1:c.1364T>C
  • NM_001408480.1:c.1364T>C
  • NM_001408481.1:c.1361T>C
  • NM_001408482.1:c.1361T>C
  • NM_001408483.1:c.1361T>C
  • NM_001408484.1:c.1361T>C
  • NM_001408485.1:c.1361T>C
  • NM_001408489.1:c.1361T>C
  • NM_001408490.1:c.1361T>C
  • NM_001408491.1:c.1361T>C
  • NM_001408492.1:c.1358T>C
  • NM_001408493.1:c.1358T>C
  • NM_001408494.1:c.1334T>C
  • NM_001408495.1:c.1328T>C
  • NM_001408496.1:c.1310T>C
  • NM_001408497.1:c.1310T>C
  • NM_001408498.1:c.1310T>C
  • NM_001408499.1:c.1310T>C
  • NM_001408500.1:c.1310T>C
  • NM_001408501.1:c.1310T>C
  • NM_001408502.1:c.1307T>C
  • NM_001408503.1:c.1307T>C
  • NM_001408504.1:c.1307T>C
  • NM_001408505.1:c.1304T>C
  • NM_001408506.1:c.1247T>C
  • NM_001408507.1:c.1244T>C
  • NM_001408508.1:c.1235T>C
  • NM_001408509.1:c.1232T>C
  • NM_001408510.1:c.1193T>C
  • NM_001408511.1:c.1190T>C
  • NM_001408512.1:c.1070T>C
  • NM_001408513.1:c.1043T>C
  • NM_007294.4:c.4883T>CMANE SELECT
  • NM_007297.4:c.4742T>C
  • NM_007298.4:c.1571T>C
  • NM_007299.4:c.1571T>C
  • NM_007300.4:c.4946T>C
  • NM_007304.2:c.1571T>C
  • NP_001394500.1:p.Met1557Thr
  • NP_001394510.1:p.Met1650Thr
  • NP_001394511.1:p.Met1650Thr
  • NP_001394512.1:p.Met1649Thr
  • NP_001394514.1:p.Met1649Thr
  • NP_001394516.1:p.Met1649Thr
  • NP_001394519.1:p.Met1648Thr
  • NP_001394520.1:p.Met1648Thr
  • NP_001394522.1:p.Met1628Thr
  • NP_001394523.1:p.Met1628Thr
  • NP_001394525.1:p.Met1628Thr
  • NP_001394526.1:p.Met1628Thr
  • NP_001394527.1:p.Met1628Thr
  • NP_001394531.1:p.Met1628Thr
  • NP_001394532.1:p.Met1628Thr
  • NP_001394534.1:p.Met1628Thr
  • NP_001394539.1:p.Met1627Thr
  • NP_001394540.1:p.Met1627Thr
  • NP_001394541.1:p.Met1627Thr
  • NP_001394542.1:p.Met1627Thr
  • NP_001394543.1:p.Met1627Thr
  • NP_001394544.1:p.Met1627Thr
  • NP_001394545.1:p.Met1627Thr
  • NP_001394546.1:p.Met1627Thr
  • NP_001394547.1:p.Met1627Thr
  • NP_001394548.1:p.Met1627Thr
  • NP_001394549.1:p.Met1627Thr
  • NP_001394550.1:p.Met1627Thr
  • NP_001394551.1:p.Met1627Thr
  • NP_001394552.1:p.Met1627Thr
  • NP_001394553.1:p.Met1627Thr
  • NP_001394554.1:p.Met1627Thr
  • NP_001394555.1:p.Met1627Thr
  • NP_001394556.1:p.Met1626Thr
  • NP_001394557.1:p.Met1626Thr
  • NP_001394558.1:p.Met1626Thr
  • NP_001394559.1:p.Met1626Thr
  • NP_001394560.1:p.Met1626Thr
  • NP_001394561.1:p.Met1626Thr
  • NP_001394562.1:p.Met1626Thr
  • NP_001394563.1:p.Met1626Thr
  • NP_001394564.1:p.Met1626Thr
  • NP_001394565.1:p.Met1626Thr
  • NP_001394566.1:p.Met1626Thr
  • NP_001394567.1:p.Met1626Thr
  • NP_001394568.1:p.Met1626Thr
  • NP_001394569.1:p.Met1626Thr
  • NP_001394570.1:p.Met1626Thr
  • NP_001394571.1:p.Met1626Thr
  • NP_001394573.1:p.Met1625Thr
  • NP_001394574.1:p.Met1625Thr
  • NP_001394575.1:p.Met1624Thr
  • NP_001394576.1:p.Met1623Thr
  • NP_001394577.1:p.Met1609Thr
  • NP_001394578.1:p.Met1608Thr
  • NP_001394581.1:p.Met1628Thr
  • NP_001394582.1:p.Met1602Thr
  • NP_001394583.1:p.Met1602Thr
  • NP_001394584.1:p.Met1602Thr
  • NP_001394585.1:p.Met1601Thr
  • NP_001394586.1:p.Met1601Thr
  • NP_001394587.1:p.Met1601Thr
  • NP_001394588.1:p.Met1600Thr
  • NP_001394589.1:p.Met1600Thr
  • NP_001394590.1:p.Met1600Thr
  • NP_001394591.1:p.Met1600Thr
  • NP_001394592.1:p.Met1600Thr
  • NP_001394593.1:p.Met1587Thr
  • NP_001394594.1:p.Met1587Thr
  • NP_001394595.1:p.Met1587Thr
  • NP_001394596.1:p.Met1587Thr
  • NP_001394597.1:p.Met1587Thr
  • NP_001394598.1:p.Met1587Thr
  • NP_001394599.1:p.Met1586Thr
  • NP_001394600.1:p.Met1586Thr
  • NP_001394601.1:p.Met1586Thr
  • NP_001394602.1:p.Met1586Thr
  • NP_001394603.1:p.Met1586Thr
  • NP_001394604.1:p.Met1586Thr
  • NP_001394605.1:p.Met1586Thr
  • NP_001394606.1:p.Met1586Thr
  • NP_001394607.1:p.Met1586Thr
  • NP_001394608.1:p.Met1586Thr
  • NP_001394609.1:p.Met1586Thr
  • NP_001394610.1:p.Met1585Thr
  • NP_001394611.1:p.Met1585Thr
  • NP_001394612.1:p.Met1585Thr
  • NP_001394613.1:p.Met1628Thr
  • NP_001394614.1:p.Met1585Thr
  • NP_001394615.1:p.Met1585Thr
  • NP_001394616.1:p.Met1585Thr
  • NP_001394617.1:p.Met1585Thr
  • NP_001394618.1:p.Met1585Thr
  • NP_001394619.1:p.Met1584Thr
  • NP_001394620.1:p.Met1584Thr
  • NP_001394621.1:p.Met1581Thr
  • NP_001394623.1:p.Met1581Thr
  • NP_001394624.1:p.Met1581Thr
  • NP_001394625.1:p.Met1581Thr
  • NP_001394626.1:p.Met1581Thr
  • NP_001394627.1:p.Met1581Thr
  • NP_001394653.1:p.Met1581Thr
  • NP_001394654.1:p.Met1581Thr
  • NP_001394655.1:p.Met1581Thr
  • NP_001394656.1:p.Met1581Thr
  • NP_001394657.1:p.Met1581Thr
  • NP_001394658.1:p.Met1581Thr
  • NP_001394659.1:p.Met1581Thr
  • NP_001394660.1:p.Met1581Thr
  • NP_001394661.1:p.Met1580Thr
  • NP_001394662.1:p.Met1580Thr
  • NP_001394663.1:p.Met1580Thr
  • NP_001394664.1:p.Met1580Thr
  • NP_001394665.1:p.Met1580Thr
  • NP_001394666.1:p.Met1580Thr
  • NP_001394667.1:p.Met1580Thr
  • NP_001394668.1:p.Met1580Thr
  • NP_001394669.1:p.Met1580Thr
  • NP_001394670.1:p.Met1580Thr
  • NP_001394671.1:p.Met1580Thr
  • NP_001394672.1:p.Met1580Thr
  • NP_001394673.1:p.Met1580Thr
  • NP_001394674.1:p.Met1580Thr
  • NP_001394675.1:p.Met1580Thr
  • NP_001394676.1:p.Met1580Thr
  • NP_001394677.1:p.Met1580Thr
  • NP_001394678.1:p.Met1580Thr
  • NP_001394679.1:p.Met1580Thr
  • NP_001394680.1:p.Met1580Thr
  • NP_001394681.1:p.Met1580Thr
  • NP_001394767.1:p.Met1579Thr
  • NP_001394768.1:p.Met1579Thr
  • NP_001394770.1:p.Met1579Thr
  • NP_001394771.1:p.Met1579Thr
  • NP_001394772.1:p.Met1579Thr
  • NP_001394773.1:p.Met1579Thr
  • NP_001394774.1:p.Met1579Thr
  • NP_001394775.1:p.Met1579Thr
  • NP_001394776.1:p.Met1579Thr
  • NP_001394777.1:p.Met1579Thr
  • NP_001394778.1:p.Met1579Thr
  • NP_001394779.1:p.Met1579Thr
  • NP_001394780.1:p.Met1579Thr
  • NP_001394781.1:p.Met1579Thr
  • NP_001394782.1:p.Met1579Thr
  • NP_001394783.1:p.Met1628Thr
  • NP_001394787.1:p.Met1627Thr
  • NP_001394788.1:p.Met1627Thr
  • NP_001394789.1:p.Met1627Thr
  • NP_001394790.1:p.Met1626Thr
  • NP_001394791.1:p.Met1561Thr
  • NP_001394792.1:p.Met1586Thr
  • NP_001394803.1:p.Met1559Thr
  • NP_001394804.1:p.Met1559Thr
  • NP_001394808.1:p.Met1558Thr
  • NP_001394810.1:p.Met1558Thr
  • NP_001394811.1:p.Met1558Thr
  • NP_001394813.1:p.Met1558Thr
  • NP_001394814.1:p.Met1558Thr
  • NP_001394815.1:p.Met1558Thr
  • NP_001394816.1:p.Met1558Thr
  • NP_001394818.1:p.Met1558Thr
  • NP_001394823.1:p.Met1557Thr
  • NP_001394824.1:p.Met1557Thr
  • NP_001394825.1:p.Met1557Thr
  • NP_001394826.1:p.Met1557Thr
  • NP_001394827.1:p.Met1557Thr
  • NP_001394828.1:p.Met1557Thr
  • NP_001394829.1:p.Met1557Thr
  • NP_001394831.1:p.Met1557Thr
  • NP_001394833.1:p.Met1557Thr
  • NP_001394835.1:p.Met1557Thr
  • NP_001394836.1:p.Met1557Thr
  • NP_001394837.1:p.Met1557Thr
  • NP_001394838.1:p.Met1557Thr
  • NP_001394839.1:p.Met1557Thr
  • NP_001394844.1:p.Met1556Thr
  • NP_001394845.1:p.Met1556Thr
  • NP_001394846.1:p.Met1556Thr
  • NP_001394847.1:p.Met1556Thr
  • NP_001394848.1:p.Met1587Thr
  • NP_001394849.1:p.Met1540Thr
  • NP_001394850.1:p.Met1540Thr
  • NP_001394851.1:p.Met1540Thr
  • NP_001394852.1:p.Met1540Thr
  • NP_001394853.1:p.Met1540Thr
  • NP_001394854.1:p.Met1540Thr
  • NP_001394855.1:p.Met1540Thr
  • NP_001394856.1:p.Met1539Thr
  • NP_001394857.1:p.Met1539Thr
  • NP_001394858.1:p.Met1539Thr
  • NP_001394859.1:p.Met1539Thr
  • NP_001394860.1:p.Met1539Thr
  • NP_001394861.1:p.Met1539Thr
  • NP_001394862.1:p.Met1539Thr
  • NP_001394863.1:p.Met1538Thr
  • NP_001394864.1:p.Met1538Thr
  • NP_001394865.1:p.Met1538Thr
  • NP_001394866.1:p.Met1587Thr
  • NP_001394867.1:p.Met1587Thr
  • NP_001394868.1:p.Met1586Thr
  • NP_001394869.1:p.Met1586Thr
  • NP_001394870.1:p.Met1585Thr
  • NP_001394871.1:p.Met1581Thr
  • NP_001394872.1:p.Met1580Thr
  • NP_001394873.1:p.Met1580Thr
  • NP_001394874.1:p.Met1580Thr
  • NP_001394875.1:p.Met1517Thr
  • NP_001394876.1:p.Met1517Thr
  • NP_001394877.1:p.Met1517Thr
  • NP_001394878.1:p.Met1517Thr
  • NP_001394879.1:p.Met1516Thr
  • NP_001394880.1:p.Met1516Thr
  • NP_001394881.1:p.Met1516Thr
  • NP_001394882.1:p.Met1516Thr
  • NP_001394883.1:p.Met1516Thr
  • NP_001394884.1:p.Met1516Thr
  • NP_001394885.1:p.Met1515Thr
  • NP_001394886.1:p.Met1515Thr
  • NP_001394887.1:p.Met1515Thr
  • NP_001394888.1:p.Met1501Thr
  • NP_001394889.1:p.Met1500Thr
  • NP_001394891.1:p.Met1500Thr
  • NP_001394892.1:p.Met1499Thr
  • NP_001394893.1:p.Met1474Thr
  • NP_001394894.1:p.Met1459Thr
  • NP_001394895.1:p.Met1332Thr
  • NP_001394896.1:p.Met1331Thr
  • NP_001394897.1:p.Met760Thr
  • NP_001394898.1:p.Met759Thr
  • NP_001394899.1:p.Met547Thr
  • NP_001394900.1:p.Met547Thr
  • NP_001394901.1:p.Met546Thr
  • NP_001394902.1:p.Met525Thr
  • NP_001394903.1:p.Met525Thr
  • NP_001394904.1:p.Met525Thr
  • NP_001394905.1:p.Met525Thr
  • NP_001394906.1:p.Met525Thr
  • NP_001394907.1:p.Met525Thr
  • NP_001394908.1:p.Met524Thr
  • NP_001394909.1:p.Met524Thr
  • NP_001394910.1:p.Met524Thr
  • NP_001394911.1:p.Met524Thr
  • NP_001394912.1:p.Met524Thr
  • NP_001394913.1:p.Met524Thr
  • NP_001394914.1:p.Met524Thr
  • NP_001394915.1:p.Met524Thr
  • NP_001394919.1:p.Met524Thr
  • NP_001394920.1:p.Met524Thr
  • NP_001394921.1:p.Met524Thr
  • NP_001394922.1:p.Met524Thr
  • NP_001395321.1:p.Met523Thr
  • NP_001395325.1:p.Met523Thr
  • NP_001395326.1:p.Met523Thr
  • NP_001395327.1:p.Met523Thr
  • NP_001395328.1:p.Met523Thr
  • NP_001395329.1:p.Met523Thr
  • NP_001395330.1:p.Met523Thr
  • NP_001395331.1:p.Met523Thr
  • NP_001395332.1:p.Met523Thr
  • NP_001395333.1:p.Met523Thr
  • NP_001395335.1:p.Met522Thr
  • NP_001395336.1:p.Met522Thr
  • NP_001395337.1:p.Met522Thr
  • NP_001395338.1:p.Met521Thr
  • NP_001395339.1:p.Met500Thr
  • NP_001395340.1:p.Met499Thr
  • NP_001395341.1:p.Met498Thr
  • NP_001395342.1:p.Met498Thr
  • NP_001395343.1:p.Met498Thr
  • NP_001395344.1:p.Met498Thr
  • NP_001395345.1:p.Met498Thr
  • NP_001395347.1:p.Met486Thr
  • NP_001395348.1:p.Met486Thr
  • NP_001395349.1:p.Met486Thr
  • NP_001395350.1:p.Met485Thr
  • NP_001395351.1:p.Met485Thr
  • NP_001395352.1:p.Met485Thr
  • NP_001395353.1:p.Met485Thr
  • NP_001395354.1:p.Met484Thr
  • NP_001395355.1:p.Met484Thr
  • NP_001395356.1:p.Met484Thr
  • NP_001395357.1:p.Met484Thr
  • NP_001395358.1:p.Met484Thr
  • NP_001395359.1:p.Met484Thr
  • NP_001395360.1:p.Met484Thr
  • NP_001395361.1:p.Met483Thr
  • NP_001395362.1:p.Met483Thr
  • NP_001395363.1:p.Met483Thr
  • NP_001395364.1:p.Met483Thr
  • NP_001395365.1:p.Met483Thr
  • NP_001395366.1:p.Met483Thr
  • NP_001395367.1:p.Met483Thr
  • NP_001395368.1:p.Met483Thr
  • NP_001395369.1:p.Met483Thr
  • NP_001395370.1:p.Met483Thr
  • NP_001395371.1:p.Met483Thr
  • NP_001395372.1:p.Met483Thr
  • NP_001395373.1:p.Met483Thr
  • NP_001395374.1:p.Met482Thr
  • NP_001395375.1:p.Met482Thr
  • NP_001395376.1:p.Met482Thr
  • NP_001395377.1:p.Met482Thr
  • NP_001395379.1:p.Met482Thr
  • NP_001395380.1:p.Met480Thr
  • NP_001395381.1:p.Met478Thr
  • NP_001395382.1:p.Met478Thr
  • NP_001395383.1:p.Met478Thr
  • NP_001395384.1:p.Met478Thr
  • NP_001395385.1:p.Met478Thr
  • NP_001395386.1:p.Met478Thr
  • NP_001395387.1:p.Met477Thr
  • NP_001395388.1:p.Met477Thr
  • NP_001395389.1:p.Met477Thr
  • NP_001395390.1:p.Met477Thr
  • NP_001395391.1:p.Met477Thr
  • NP_001395392.1:p.Met477Thr
  • NP_001395393.1:p.Met477Thr
  • NP_001395394.1:p.Met477Thr
  • NP_001395395.1:p.Met477Thr
  • NP_001395396.1:p.Met477Thr
  • NP_001395397.1:p.Met476Thr
  • NP_001395398.1:p.Met476Thr
  • NP_001395399.1:p.Met476Thr
  • NP_001395401.1:p.Met524Thr
  • NP_001395402.1:p.Met523Thr
  • NP_001395403.1:p.Met458Thr
  • NP_001395404.1:p.Met457Thr
  • NP_001395405.1:p.Met457Thr
  • NP_001395407.1:p.Met455Thr
  • NP_001395408.1:p.Met455Thr
  • NP_001395409.1:p.Met455Thr
  • NP_001395410.1:p.Met454Thr
  • NP_001395411.1:p.Met454Thr
  • NP_001395412.1:p.Met454Thr
  • NP_001395413.1:p.Met454Thr
  • NP_001395414.1:p.Met454Thr
  • NP_001395418.1:p.Met454Thr
  • NP_001395419.1:p.Met454Thr
  • NP_001395420.1:p.Met454Thr
  • NP_001395421.1:p.Met453Thr
  • NP_001395422.1:p.Met453Thr
  • NP_001395423.1:p.Met445Thr
  • NP_001395424.1:p.Met443Thr
  • NP_001395425.1:p.Met437Thr
  • NP_001395426.1:p.Met437Thr
  • NP_001395427.1:p.Met437Thr
  • NP_001395428.1:p.Met437Thr
  • NP_001395429.1:p.Met437Thr
  • NP_001395430.1:p.Met437Thr
  • NP_001395431.1:p.Met436Thr
  • NP_001395432.1:p.Met436Thr
  • NP_001395433.1:p.Met436Thr
  • NP_001395434.1:p.Met435Thr
  • NP_001395435.1:p.Met416Thr
  • NP_001395436.1:p.Met415Thr
  • NP_001395437.1:p.Met412Thr
  • NP_001395438.1:p.Met411Thr
  • NP_001395439.1:p.Met398Thr
  • NP_001395440.1:p.Met397Thr
  • NP_001395441.1:p.Met357Thr
  • NP_001395442.1:p.Met348Thr
  • NP_009225.1:p.Met1628Thr
  • NP_009225.1:p.Met1628Thr
  • NP_009228.2:p.Met1581Thr
  • NP_009229.2:p.Met524Thr
  • NP_009229.2:p.Met524Thr
  • NP_009230.2:p.Met524Thr
  • NP_009231.2:p.Met1649Thr
  • NP_009235.2:p.Met524Thr
  • LRG_292t1:c.4883T>C
  • LRG_292:g.146953T>C
  • LRG_292p1:p.Met1628Thr
  • NC_000017.10:g.41223048A>G
  • NM_007294.3:c.4883T>C
  • NM_007298.3:c.1571T>C
  • NM_007300.3:c.4946T>C
  • NR_027676.2:n.5060T>C
  • P38398:p.Met1628Thr
  • U14680.1:n.5002T>C
  • p.M1628T
Protein change:
M1331T
Links:
BRCA1-HCI: BRCA1_00013; UniProtKB: P38398#VAR_007793; dbSNP: rs4986854
NCBI 1000 Genomes Browser:
rs4986854
Molecular consequence:
  • NM_001407571.1:c.4670T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.4949T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.4949T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.4946T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.4946T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.4946T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.4943T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.4943T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.4883T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.4883T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.4883T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.4883T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.4883T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.4883T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.4883T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.4883T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.4880T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.4880T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.4880T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.4880T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.4880T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.4880T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.4880T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.4880T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.4880T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.4880T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.4880T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.4880T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.4880T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.4880T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.4880T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.4880T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.4880T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.4877T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.4877T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.4877T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.4877T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.4877T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.4877T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.4877T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.4877T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.4877T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.4877T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.4877T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.4877T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.4877T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.4877T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.4877T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.4877T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.4874T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.4874T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.4871T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.4868T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.4826T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.4823T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.4883T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.4805T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.4805T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.4805T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.4802T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.4802T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.4802T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.4799T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.4799T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.4799T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.4799T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.4799T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.4760T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.4760T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.4760T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.4760T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.4760T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.4760T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.4757T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.4757T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.4757T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.4757T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.4757T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.4757T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.4757T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.4757T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.4757T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.4757T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.4757T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.4754T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.4754T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.4754T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.4883T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.4754T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.4754T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.4754T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.4754T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.4754T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.4751T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.4751T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.4742T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.4742T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.4742T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.4742T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.4742T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.4742T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.4742T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.4742T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.4742T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.4742T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.4742T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.4742T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.4742T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.4742T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.4739T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.4739T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.4739T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.4739T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.4739T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.4739T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.4739T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.4739T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.4739T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.4739T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.4739T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.4739T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.4739T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.4739T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.4739T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.4739T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.4739T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.4739T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.4739T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.4739T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.4739T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.4736T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.4736T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.4736T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.4736T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.4736T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.4736T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.4736T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.4736T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.4736T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.4736T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.4736T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.4736T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.4736T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.4736T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.4736T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.4883T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.4880T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.4880T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.4880T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.4877T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.4682T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.4757T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.4676T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.4676T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.4673T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.4673T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.4673T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.4673T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.4673T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.4673T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.4673T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.4673T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.4670T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.4670T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.4670T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.4670T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.4670T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.4670T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.4670T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.4670T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.4670T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.4670T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.4670T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.4670T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.4670T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.4670T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.4667T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.4667T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.4667T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.4667T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.4760T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.4619T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.4619T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.4619T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.4619T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.4619T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.4619T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.4619T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.4616T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.4616T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.4616T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.4616T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.4616T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.4616T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.4616T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.4613T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.4613T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.4613T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.4760T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.4760T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.4757T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.4757T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.4754T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.4742T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.4739T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.4739T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.4739T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.4550T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.4550T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.4550T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.4550T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.4547T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.4547T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.4547T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.4547T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.4547T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.4547T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.4544T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.4544T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.4544T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.4502T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.4499T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.4499T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.4496T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.4421T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.4376T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.3995T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.3992T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.2279T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.2276T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.1640T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.1640T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.1637T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.1574T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.1574T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.1574T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.1574T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.1574T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.1574T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.1571T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.1571T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.1571T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.1571T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.1571T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.1571T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.1571T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.1571T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.1571T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.1571T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.1571T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.1571T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.1568T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.1568T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.1568T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.1568T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.1568T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.1568T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.1568T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.1568T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.1568T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.1568T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.1565T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.1565T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.1565T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.1562T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408410.1:c.1499T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.1496T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.1493T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.1493T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.1493T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.1493T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.1493T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.1457T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.1457T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.1457T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.1454T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.1454T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.1454T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.1454T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.1451T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.1451T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.1451T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.1451T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.1451T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.1451T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.1451T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.1448T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.1448T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.1448T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.1448T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.1448T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.1448T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.1448T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.1448T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.1448T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.1448T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.1448T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.1448T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.1448T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.1445T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.1445T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.1445T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.1445T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.1445T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408451.1:c.1439T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408452.1:c.1433T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408453.1:c.1433T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408454.1:c.1433T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408455.1:c.1433T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408456.1:c.1433T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408457.1:c.1433T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408458.1:c.1430T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408459.1:c.1430T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408460.1:c.1430T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408461.1:c.1430T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408462.1:c.1430T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408463.1:c.1430T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408464.1:c.1430T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408465.1:c.1430T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408466.1:c.1430T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408467.1:c.1430T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408468.1:c.1427T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408469.1:c.1427T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408470.1:c.1427T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408472.1:c.1571T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408473.1:c.1568T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.1373T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.1370T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.1370T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408478.1:c.1364T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408479.1:c.1364T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408480.1:c.1364T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408481.1:c.1361T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408482.1:c.1361T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408483.1:c.1361T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408484.1:c.1361T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408485.1:c.1361T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408489.1:c.1361T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408490.1:c.1361T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408491.1:c.1361T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408492.1:c.1358T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408493.1:c.1358T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.1334T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.1328T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408496.1:c.1310T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408497.1:c.1310T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408498.1:c.1310T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408499.1:c.1310T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408500.1:c.1310T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408501.1:c.1310T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408502.1:c.1307T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408503.1:c.1307T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408504.1:c.1307T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408505.1:c.1304T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408506.1:c.1247T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408507.1:c.1244T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408508.1:c.1235T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408509.1:c.1232T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408510.1:c.1193T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408511.1:c.1190T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408512.1:c.1070T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408513.1:c.1043T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.4883T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.4742T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.1571T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.1571T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.4946T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.1571T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.5060T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
10

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000043155Biesecker Lab/Clinical Genomics Section, National Institutes of Health - ClinSeq
no assertion criteria provided
probably not pathogenic
(Jul 13, 2012) 		germlineresearch

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

SCV001473746ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)		Benign
(Mar 12, 2020) 		germlineclinical testing

Citation Link,

SCV002063617CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Likely benign
(Apr 1, 2024) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineno1not providednot provided572not providedresearch
not providedgermlineyes10not providednot providednot providednot providedclinical testing

Citations

PubMed

Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.

Johnston JJ, Rubinstein WS, Facio FM, Ng D, Singh LN, Teer JK, Mullikin JC, Biesecker LG.

Am J Hum Genet. 2012 Jul 13;91(1):97-108. doi: 10.1016/j.ajhg.2012.05.021. Epub 2012 Jun 14.

PubMed [citation]
PMID:
22703879
PMCID:
PMC3397257

Details of each submission

From Biesecker Lab/Clinical Genomics Section, National Institutes of Health - ClinSeq, SCV000043155.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)

Description

The study set was not selected for affection status in relation to any cancer. Pathogenicity categories were based on literature curation. See PubMed ID:22703879 for details.

Description

Converted during submission to Likely benign.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineno572not provideddiscovery1not providednot providednot provided

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001473746.1

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

From CeGaT Center for Human Genetics Tuebingen, SCV002063617.16

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided10not providednot providedclinical testingnot provided

Description

BRCA1: BP4, BS2

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided10not providednot providednot provided

Last Updated: Jun 17, 2024