NM_007294.4(BRCA1):c.5022C>T (p.Ile1674=) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 1, 2019
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV001171418.4
Allele description [Variation Report for NM_007294.4(BRCA1):c.5022C>T (p.Ile1674=)]
NM_007294.4(BRCA1):c.5022C>T (p.Ile1674=)
- 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.5022C>T (p.Ile1674=)
- HGVS:
- NC_000017.11:g.43067660G>A
- NG_005905.2:g.150324C>T
- NM_001407571.1:c.4809C>T
- NM_001407581.1:c.5088C>T
- NM_001407582.1:c.5088C>T
- NM_001407583.1:c.5085C>T
- NM_001407585.1:c.5085C>T
- NM_001407587.1:c.5085C>T
- NM_001407590.1:c.5082C>T
- NM_001407591.1:c.5082C>T
- NM_001407593.1:c.5022C>T
- NM_001407594.1:c.5022C>T
- NM_001407596.1:c.5022C>T
- NM_001407597.1:c.5022C>T
- NM_001407598.1:c.5022C>T
- NM_001407602.1:c.5022C>T
- NM_001407603.1:c.5022C>T
- NM_001407605.1:c.5022C>T
- NM_001407610.1:c.5019C>T
- NM_001407611.1:c.5019C>T
- NM_001407612.1:c.5019C>T
- NM_001407613.1:c.5019C>T
- NM_001407614.1:c.5019C>T
- NM_001407615.1:c.5019C>T
- NM_001407616.1:c.5019C>T
- NM_001407617.1:c.5019C>T
- NM_001407618.1:c.5019C>T
- NM_001407619.1:c.5019C>T
- NM_001407620.1:c.5019C>T
- NM_001407621.1:c.5019C>T
- NM_001407622.1:c.5019C>T
- NM_001407623.1:c.5019C>T
- NM_001407624.1:c.5019C>T
- NM_001407625.1:c.5019C>T
- NM_001407626.1:c.5019C>T
- NM_001407627.1:c.5016C>T
- NM_001407628.1:c.5016C>T
- NM_001407629.1:c.5016C>T
- NM_001407630.1:c.5016C>T
- NM_001407631.1:c.5016C>T
- NM_001407632.1:c.5016C>T
- NM_001407633.1:c.5016C>T
- NM_001407634.1:c.5016C>T
- NM_001407635.1:c.5016C>T
- NM_001407636.1:c.5016C>T
- NM_001407637.1:c.5016C>T
- NM_001407638.1:c.5016C>T
- NM_001407639.1:c.5016C>T
- NM_001407640.1:c.5016C>T
- NM_001407641.1:c.5016C>T
- NM_001407642.1:c.5016C>T
- NM_001407644.1:c.5013C>T
- NM_001407645.1:c.5013C>T
- NM_001407646.1:c.5010C>T
- NM_001407647.1:c.5007C>T
- NM_001407648.1:c.4965C>T
- NM_001407649.1:c.4962C>T
- NM_001407652.1:c.5022C>T
- NM_001407653.1:c.4944C>T
- NM_001407654.1:c.4944C>T
- NM_001407655.1:c.4944C>T
- NM_001407656.1:c.4941C>T
- NM_001407657.1:c.4941C>T
- NM_001407658.1:c.4941C>T
- NM_001407659.1:c.4938C>T
- NM_001407660.1:c.4938C>T
- NM_001407661.1:c.4938C>T
- NM_001407662.1:c.4938C>T
- NM_001407663.1:c.4938C>T
- NM_001407664.1:c.4899C>T
- NM_001407665.1:c.4899C>T
- NM_001407666.1:c.4899C>T
- NM_001407667.1:c.4899C>T
- NM_001407668.1:c.4899C>T
- NM_001407669.1:c.4899C>T
- NM_001407670.1:c.4896C>T
- NM_001407671.1:c.4896C>T
- NM_001407672.1:c.4896C>T
- NM_001407673.1:c.4896C>T
- NM_001407674.1:c.4896C>T
- NM_001407675.1:c.4896C>T
- NM_001407676.1:c.4896C>T
- NM_001407677.1:c.4896C>T
- NM_001407678.1:c.4896C>T
- NM_001407679.1:c.4896C>T
- NM_001407680.1:c.4896C>T
- NM_001407681.1:c.4893C>T
- NM_001407682.1:c.4893C>T
- NM_001407683.1:c.4893C>T
- NM_001407684.1:c.5022C>T
- NM_001407685.1:c.4893C>T
- NM_001407686.1:c.4893C>T
- NM_001407687.1:c.4893C>T
- NM_001407688.1:c.4893C>T
- NM_001407689.1:c.4893C>T
- NM_001407690.1:c.4890C>T
- NM_001407691.1:c.4890C>T
- NM_001407692.1:c.4881C>T
- NM_001407694.1:c.4881C>T
- NM_001407695.1:c.4881C>T
- NM_001407696.1:c.4881C>T
- NM_001407697.1:c.4881C>T
- NM_001407698.1:c.4881C>T
- NM_001407724.1:c.4881C>T
- NM_001407725.1:c.4881C>T
- NM_001407726.1:c.4881C>T
- NM_001407727.1:c.4881C>T
- NM_001407728.1:c.4881C>T
- NM_001407729.1:c.4881C>T
- NM_001407730.1:c.4881C>T
- NM_001407731.1:c.4881C>T
- NM_001407732.1:c.4878C>T
- NM_001407733.1:c.4878C>T
- NM_001407734.1:c.4878C>T
- NM_001407735.1:c.4878C>T
- NM_001407736.1:c.4878C>T
- NM_001407737.1:c.4878C>T
- NM_001407738.1:c.4878C>T
- NM_001407739.1:c.4878C>T
- NM_001407740.1:c.4878C>T
- NM_001407741.1:c.4878C>T
- NM_001407742.1:c.4878C>T
- NM_001407743.1:c.4878C>T
- NM_001407744.1:c.4878C>T
- NM_001407745.1:c.4878C>T
- NM_001407746.1:c.4878C>T
- NM_001407747.1:c.4878C>T
- NM_001407748.1:c.4878C>T
- NM_001407749.1:c.4878C>T
- NM_001407750.1:c.4878C>T
- NM_001407751.1:c.4878C>T
- NM_001407752.1:c.4878C>T
- NM_001407838.1:c.4875C>T
- NM_001407839.1:c.4875C>T
- NM_001407841.1:c.4875C>T
- NM_001407842.1:c.4875C>T
- NM_001407843.1:c.4875C>T
- NM_001407844.1:c.4875C>T
- NM_001407845.1:c.4875C>T
- NM_001407846.1:c.4875C>T
- NM_001407847.1:c.4875C>T
- NM_001407848.1:c.4875C>T
- NM_001407849.1:c.4875C>T
- NM_001407850.1:c.4875C>T
- NM_001407851.1:c.4875C>T
- NM_001407852.1:c.4875C>T
- NM_001407853.1:c.4875C>T
- NM_001407854.1:c.5022C>T
- NM_001407858.1:c.5019C>T
- NM_001407859.1:c.5019C>T
- NM_001407860.1:c.5019C>T
- NM_001407861.1:c.5016C>T
- NM_001407862.1:c.4821C>T
- NM_001407863.1:c.4896C>T
- NM_001407874.1:c.4815C>T
- NM_001407875.1:c.4815C>T
- NM_001407879.1:c.4812C>T
- NM_001407881.1:c.4812C>T
- NM_001407882.1:c.4812C>T
- NM_001407884.1:c.4812C>T
- NM_001407885.1:c.4812C>T
- NM_001407886.1:c.4812C>T
- NM_001407887.1:c.4812C>T
- NM_001407889.1:c.4812C>T
- NM_001407894.1:c.4809C>T
- NM_001407895.1:c.4809C>T
- NM_001407896.1:c.4809C>T
- NM_001407897.1:c.4809C>T
- NM_001407898.1:c.4809C>T
- NM_001407899.1:c.4809C>T
- NM_001407900.1:c.4809C>T
- NM_001407902.1:c.4809C>T
- NM_001407904.1:c.4809C>T
- NM_001407906.1:c.4809C>T
- NM_001407907.1:c.4809C>T
- NM_001407908.1:c.4809C>T
- NM_001407909.1:c.4809C>T
- NM_001407910.1:c.4809C>T
- NM_001407915.1:c.4806C>T
- NM_001407916.1:c.4806C>T
- NM_001407917.1:c.4806C>T
- NM_001407918.1:c.4806C>T
- NM_001407919.1:c.4899C>T
- NM_001407920.1:c.4758C>T
- NM_001407921.1:c.4758C>T
- NM_001407922.1:c.4758C>T
- NM_001407923.1:c.4758C>T
- NM_001407924.1:c.4758C>T
- NM_001407925.1:c.4758C>T
- NM_001407926.1:c.4758C>T
- NM_001407927.1:c.4755C>T
- NM_001407928.1:c.4755C>T
- NM_001407929.1:c.4755C>T
- NM_001407930.1:c.4755C>T
- NM_001407931.1:c.4755C>T
- NM_001407932.1:c.4755C>T
- NM_001407933.1:c.4755C>T
- NM_001407934.1:c.4752C>T
- NM_001407935.1:c.4752C>T
- NM_001407936.1:c.4752C>T
- NM_001407937.1:c.4899C>T
- NM_001407938.1:c.4899C>T
- NM_001407939.1:c.4896C>T
- NM_001407940.1:c.4896C>T
- NM_001407941.1:c.4893C>T
- NM_001407942.1:c.4881C>T
- NM_001407943.1:c.4878C>T
- NM_001407944.1:c.4878C>T
- NM_001407945.1:c.4878C>T
- NM_001407946.1:c.4689C>T
- NM_001407947.1:c.4689C>T
- NM_001407948.1:c.4689C>T
- NM_001407949.1:c.4689C>T
- NM_001407950.1:c.4686C>T
- NM_001407951.1:c.4686C>T
- NM_001407952.1:c.4686C>T
- NM_001407953.1:c.4686C>T
- NM_001407954.1:c.4686C>T
- NM_001407955.1:c.4686C>T
- NM_001407956.1:c.4683C>T
- NM_001407957.1:c.4683C>T
- NM_001407958.1:c.4683C>T
- NM_001407959.1:c.4641C>T
- NM_001407960.1:c.4638C>T
- NM_001407962.1:c.4638C>T
- NM_001407963.1:c.4635C>T
- NM_001407964.1:c.4560C>T
- NM_001407965.1:c.4515C>T
- NM_001407966.1:c.4134C>T
- NM_001407967.1:c.4131C>T
- NM_001407968.1:c.2418C>T
- NM_001407969.1:c.2415C>T
- NM_001407970.1:c.1779C>T
- NM_001407971.1:c.1779C>T
- NM_001407972.1:c.1776C>T
- NM_001407973.1:c.1713C>T
- NM_001407974.1:c.1713C>T
- NM_001407975.1:c.1713C>T
- NM_001407976.1:c.1713C>T
- NM_001407977.1:c.1713C>T
- NM_001407978.1:c.1713C>T
- NM_001407979.1:c.1710C>T
- NM_001407980.1:c.1710C>T
- NM_001407981.1:c.1710C>T
- NM_001407982.1:c.1710C>T
- NM_001407983.1:c.1710C>T
- NM_001407984.1:c.1710C>T
- NM_001407985.1:c.1710C>T
- NM_001407986.1:c.1710C>T
- NM_001407990.1:c.1710C>T
- NM_001407991.1:c.1710C>T
- NM_001407992.1:c.1710C>T
- NM_001407993.1:c.1710C>T
- NM_001408392.1:c.1707C>T
- NM_001408396.1:c.1707C>T
- NM_001408397.1:c.1707C>T
- NM_001408398.1:c.1707C>T
- NM_001408399.1:c.1707C>T
- NM_001408400.1:c.1707C>T
- NM_001408401.1:c.1707C>T
- NM_001408402.1:c.1707C>T
- NM_001408403.1:c.1707C>T
- NM_001408404.1:c.1707C>T
- NM_001408406.1:c.1704C>T
- NM_001408407.1:c.1704C>T
- NM_001408408.1:c.1704C>T
- NM_001408409.1:c.1701C>T
- NM_001408410.1:c.1638C>T
- NM_001408411.1:c.1635C>T
- NM_001408412.1:c.1632C>T
- NM_001408413.1:c.1632C>T
- NM_001408414.1:c.1632C>T
- NM_001408415.1:c.1632C>T
- NM_001408416.1:c.1632C>T
- NM_001408418.1:c.1596C>T
- NM_001408419.1:c.1596C>T
- NM_001408420.1:c.1596C>T
- NM_001408421.1:c.1593C>T
- NM_001408422.1:c.1593C>T
- NM_001408423.1:c.1593C>T
- NM_001408424.1:c.1593C>T
- NM_001408425.1:c.1590C>T
- NM_001408426.1:c.1590C>T
- NM_001408427.1:c.1590C>T
- NM_001408428.1:c.1590C>T
- NM_001408429.1:c.1590C>T
- NM_001408430.1:c.1590C>T
- NM_001408431.1:c.1590C>T
- NM_001408432.1:c.1587C>T
- NM_001408433.1:c.1587C>T
- NM_001408434.1:c.1587C>T
- NM_001408435.1:c.1587C>T
- NM_001408436.1:c.1587C>T
- NM_001408437.1:c.1587C>T
- NM_001408438.1:c.1587C>T
- NM_001408439.1:c.1587C>T
- NM_001408440.1:c.1587C>T
- NM_001408441.1:c.1587C>T
- NM_001408442.1:c.1587C>T
- NM_001408443.1:c.1587C>T
- NM_001408444.1:c.1587C>T
- NM_001408445.1:c.1584C>T
- NM_001408446.1:c.1584C>T
- NM_001408447.1:c.1584C>T
- NM_001408448.1:c.1584C>T
- NM_001408450.1:c.1584C>T
- NM_001408451.1:c.1578C>T
- NM_001408452.1:c.1572C>T
- NM_001408453.1:c.1572C>T
- NM_001408454.1:c.1572C>T
- NM_001408455.1:c.1572C>T
- NM_001408456.1:c.1572C>T
- NM_001408457.1:c.1572C>T
- NM_001408458.1:c.1569C>T
- NM_001408459.1:c.1569C>T
- NM_001408460.1:c.1569C>T
- NM_001408461.1:c.1569C>T
- NM_001408462.1:c.1569C>T
- NM_001408463.1:c.1569C>T
- NM_001408464.1:c.1569C>T
- NM_001408465.1:c.1569C>T
- NM_001408466.1:c.1569C>T
- NM_001408467.1:c.1569C>T
- NM_001408468.1:c.1566C>T
- NM_001408469.1:c.1566C>T
- NM_001408470.1:c.1566C>T
- NM_001408472.1:c.1710C>T
- NM_001408473.1:c.1707C>T
- NM_001408474.1:c.1512C>T
- NM_001408475.1:c.1509C>T
- NM_001408476.1:c.1509C>T
- NM_001408478.1:c.1503C>T
- NM_001408479.1:c.1503C>T
- NM_001408480.1:c.1503C>T
- NM_001408481.1:c.1500C>T
- NM_001408482.1:c.1500C>T
- NM_001408483.1:c.1500C>T
- NM_001408484.1:c.1500C>T
- NM_001408485.1:c.1500C>T
- NM_001408489.1:c.1500C>T
- NM_001408490.1:c.1500C>T
- NM_001408491.1:c.1500C>T
- NM_001408492.1:c.1497C>T
- NM_001408493.1:c.1497C>T
- NM_001408494.1:c.1473C>T
- NM_001408495.1:c.1467C>T
- NM_001408496.1:c.1449C>T
- NM_001408497.1:c.1449C>T
- NM_001408498.1:c.1449C>T
- NM_001408499.1:c.1449C>T
- NM_001408500.1:c.1449C>T
- NM_001408501.1:c.1449C>T
- NM_001408502.1:c.1446C>T
- NM_001408503.1:c.1446C>T
- NM_001408504.1:c.1446C>T
- NM_001408505.1:c.1443C>T
- NM_001408506.1:c.1386C>T
- NM_001408507.1:c.1383C>T
- NM_001408508.1:c.1374C>T
- NM_001408509.1:c.1371C>T
- NM_001408510.1:c.1332C>T
- NM_001408511.1:c.1329C>T
- NM_001408512.1:c.1209C>T
- NM_001408513.1:c.1182C>T
- NM_001408514.1:c.839-3709C>T
- NM_007294.4:c.5022C>TMANE SELECT
- NM_007297.4:c.4881C>T
- NM_007298.4:c.1710C>T
- NM_007299.4:c.1710C>T
- NM_007300.3:c.5085C>T
- NM_007300.4:c.5085C>T
- NM_007304.2:c.1710C>T
- NP_001394500.1:p.Ile1603=
- NP_001394510.1:p.Ile1696=
- NP_001394511.1:p.Ile1696=
- NP_001394512.1:p.Ile1695=
- NP_001394514.1:p.Ile1695=
- NP_001394516.1:p.Ile1695=
- NP_001394519.1:p.Ile1694=
- NP_001394520.1:p.Ile1694=
- NP_001394522.1:p.Ile1674=
- NP_001394523.1:p.Ile1674=
- NP_001394525.1:p.Ile1674=
- NP_001394526.1:p.Ile1674=
- NP_001394527.1:p.Ile1674=
- NP_001394531.1:p.Ile1674=
- NP_001394532.1:p.Ile1674=
- NP_001394534.1:p.Ile1674=
- NP_001394539.1:p.Ile1673=
- NP_001394540.1:p.Ile1673=
- NP_001394541.1:p.Ile1673=
- NP_001394542.1:p.Ile1673=
- NP_001394543.1:p.Ile1673=
- NP_001394544.1:p.Ile1673=
- NP_001394545.1:p.Ile1673=
- NP_001394546.1:p.Ile1673=
- NP_001394547.1:p.Ile1673=
- NP_001394548.1:p.Ile1673=
- NP_001394549.1:p.Ile1673=
- NP_001394550.1:p.Ile1673=
- NP_001394551.1:p.Ile1673=
- NP_001394552.1:p.Ile1673=
- NP_001394553.1:p.Ile1673=
- NP_001394554.1:p.Ile1673=
- NP_001394555.1:p.Ile1673=
- NP_001394556.1:p.Ile1672=
- NP_001394557.1:p.Ile1672=
- NP_001394558.1:p.Ile1672=
- NP_001394559.1:p.Ile1672=
- NP_001394560.1:p.Ile1672=
- NP_001394561.1:p.Ile1672=
- NP_001394562.1:p.Ile1672=
- NP_001394563.1:p.Ile1672=
- NP_001394564.1:p.Ile1672=
- NP_001394565.1:p.Ile1672=
- NP_001394566.1:p.Ile1672=
- NP_001394567.1:p.Ile1672=
- NP_001394568.1:p.Ile1672=
- NP_001394569.1:p.Ile1672=
- NP_001394570.1:p.Ile1672=
- NP_001394571.1:p.Ile1672=
- NP_001394573.1:p.Ile1671=
- NP_001394574.1:p.Ile1671=
- NP_001394575.1:p.Ile1670=
- NP_001394576.1:p.Ile1669=
- NP_001394577.1:p.Ile1655=
- NP_001394578.1:p.Ile1654=
- NP_001394581.1:p.Ile1674=
- NP_001394582.1:p.Ile1648=
- NP_001394583.1:p.Ile1648=
- NP_001394584.1:p.Ile1648=
- NP_001394585.1:p.Ile1647=
- NP_001394586.1:p.Ile1647=
- NP_001394587.1:p.Ile1647=
- NP_001394588.1:p.Ile1646=
- NP_001394589.1:p.Ile1646=
- NP_001394590.1:p.Ile1646=
- NP_001394591.1:p.Ile1646=
- NP_001394592.1:p.Ile1646=
- NP_001394593.1:p.Ile1633=
- NP_001394594.1:p.Ile1633=
- NP_001394595.1:p.Ile1633=
- NP_001394596.1:p.Ile1633=
- NP_001394597.1:p.Ile1633=
- NP_001394598.1:p.Ile1633=
- NP_001394599.1:p.Ile1632=
- NP_001394600.1:p.Ile1632=
- NP_001394601.1:p.Ile1632=
- NP_001394602.1:p.Ile1632=
- NP_001394603.1:p.Ile1632=
- NP_001394604.1:p.Ile1632=
- NP_001394605.1:p.Ile1632=
- NP_001394606.1:p.Ile1632=
- NP_001394607.1:p.Ile1632=
- NP_001394608.1:p.Ile1632=
- NP_001394609.1:p.Ile1632=
- NP_001394610.1:p.Ile1631=
- NP_001394611.1:p.Ile1631=
- NP_001394612.1:p.Ile1631=
- NP_001394613.1:p.Ile1674=
- NP_001394614.1:p.Ile1631=
- NP_001394615.1:p.Ile1631=
- NP_001394616.1:p.Ile1631=
- NP_001394617.1:p.Ile1631=
- NP_001394618.1:p.Ile1631=
- NP_001394619.1:p.Ile1630=
- NP_001394620.1:p.Ile1630=
- NP_001394621.1:p.Ile1627=
- NP_001394623.1:p.Ile1627=
- NP_001394624.1:p.Ile1627=
- NP_001394625.1:p.Ile1627=
- NP_001394626.1:p.Ile1627=
- NP_001394627.1:p.Ile1627=
- NP_001394653.1:p.Ile1627=
- NP_001394654.1:p.Ile1627=
- NP_001394655.1:p.Ile1627=
- NP_001394656.1:p.Ile1627=
- NP_001394657.1:p.Ile1627=
- NP_001394658.1:p.Ile1627=
- NP_001394659.1:p.Ile1627=
- NP_001394660.1:p.Ile1627=
- NP_001394661.1:p.Ile1626=
- NP_001394662.1:p.Ile1626=
- NP_001394663.1:p.Ile1626=
- NP_001394664.1:p.Ile1626=
- NP_001394665.1:p.Ile1626=
- NP_001394666.1:p.Ile1626=
- NP_001394667.1:p.Ile1626=
- NP_001394668.1:p.Ile1626=
- NP_001394669.1:p.Ile1626=
- NP_001394670.1:p.Ile1626=
- NP_001394671.1:p.Ile1626=
- NP_001394672.1:p.Ile1626=
- NP_001394673.1:p.Ile1626=
- NP_001394674.1:p.Ile1626=
- NP_001394675.1:p.Ile1626=
- NP_001394676.1:p.Ile1626=
- NP_001394677.1:p.Ile1626=
- NP_001394678.1:p.Ile1626=
- NP_001394679.1:p.Ile1626=
- NP_001394680.1:p.Ile1626=
- NP_001394681.1:p.Ile1626=
- NP_001394767.1:p.Ile1625=
- NP_001394768.1:p.Ile1625=
- NP_001394770.1:p.Ile1625=
- NP_001394771.1:p.Ile1625=
- NP_001394772.1:p.Ile1625=
- NP_001394773.1:p.Ile1625=
- NP_001394774.1:p.Ile1625=
- NP_001394775.1:p.Ile1625=
- NP_001394776.1:p.Ile1625=
- NP_001394777.1:p.Ile1625=
- NP_001394778.1:p.Ile1625=
- NP_001394779.1:p.Ile1625=
- NP_001394780.1:p.Ile1625=
- NP_001394781.1:p.Ile1625=
- NP_001394782.1:p.Ile1625=
- NP_001394783.1:p.Ile1674=
- NP_001394787.1:p.Ile1673=
- NP_001394788.1:p.Ile1673=
- NP_001394789.1:p.Ile1673=
- NP_001394790.1:p.Ile1672=
- NP_001394791.1:p.Ile1607=
- NP_001394792.1:p.Ile1632=
- NP_001394803.1:p.Ile1605=
- NP_001394804.1:p.Ile1605=
- NP_001394808.1:p.Ile1604=
- NP_001394810.1:p.Ile1604=
- NP_001394811.1:p.Ile1604=
- NP_001394813.1:p.Ile1604=
- NP_001394814.1:p.Ile1604=
- NP_001394815.1:p.Ile1604=
- NP_001394816.1:p.Ile1604=
- NP_001394818.1:p.Ile1604=
- NP_001394823.1:p.Ile1603=
- NP_001394824.1:p.Ile1603=
- NP_001394825.1:p.Ile1603=
- NP_001394826.1:p.Ile1603=
- NP_001394827.1:p.Ile1603=
- NP_001394828.1:p.Ile1603=
- NP_001394829.1:p.Ile1603=
- NP_001394831.1:p.Ile1603=
- NP_001394833.1:p.Ile1603=
- NP_001394835.1:p.Ile1603=
- NP_001394836.1:p.Ile1603=
- NP_001394837.1:p.Ile1603=
- NP_001394838.1:p.Ile1603=
- NP_001394839.1:p.Ile1603=
- NP_001394844.1:p.Ile1602=
- NP_001394845.1:p.Ile1602=
- NP_001394846.1:p.Ile1602=
- NP_001394847.1:p.Ile1602=
- NP_001394848.1:p.Ile1633=
- NP_001394849.1:p.Ile1586=
- NP_001394850.1:p.Ile1586=
- NP_001394851.1:p.Ile1586=
- NP_001394852.1:p.Ile1586=
- NP_001394853.1:p.Ile1586=
- NP_001394854.1:p.Ile1586=
- NP_001394855.1:p.Ile1586=
- NP_001394856.1:p.Ile1585=
- NP_001394857.1:p.Ile1585=
- NP_001394858.1:p.Ile1585=
- NP_001394859.1:p.Ile1585=
- NP_001394860.1:p.Ile1585=
- NP_001394861.1:p.Ile1585=
- NP_001394862.1:p.Ile1585=
- NP_001394863.1:p.Ile1584=
- NP_001394864.1:p.Ile1584=
- NP_001394865.1:p.Ile1584=
- NP_001394866.1:p.Ile1633=
- NP_001394867.1:p.Ile1633=
- NP_001394868.1:p.Ile1632=
- NP_001394869.1:p.Ile1632=
- NP_001394870.1:p.Ile1631=
- NP_001394871.1:p.Ile1627=
- NP_001394872.1:p.Ile1626=
- NP_001394873.1:p.Ile1626=
- NP_001394874.1:p.Ile1626=
- NP_001394875.1:p.Ile1563=
- NP_001394876.1:p.Ile1563=
- NP_001394877.1:p.Ile1563=
- NP_001394878.1:p.Ile1563=
- NP_001394879.1:p.Ile1562=
- NP_001394880.1:p.Ile1562=
- NP_001394881.1:p.Ile1562=
- NP_001394882.1:p.Ile1562=
- NP_001394883.1:p.Ile1562=
- NP_001394884.1:p.Ile1562=
- NP_001394885.1:p.Ile1561=
- NP_001394886.1:p.Ile1561=
- NP_001394887.1:p.Ile1561=
- NP_001394888.1:p.Ile1547=
- NP_001394889.1:p.Ile1546=
- NP_001394891.1:p.Ile1546=
- NP_001394892.1:p.Ile1545=
- NP_001394893.1:p.Ile1520=
- NP_001394894.1:p.Ile1505=
- NP_001394895.1:p.Ile1378=
- NP_001394896.1:p.Ile1377=
- NP_001394897.1:p.Ile806=
- NP_001394898.1:p.Ile805=
- NP_001394899.1:p.Ile593=
- NP_001394900.1:p.Ile593=
- NP_001394901.1:p.Ile592=
- NP_001394902.1:p.Ile571=
- NP_001394903.1:p.Ile571=
- NP_001394904.1:p.Ile571=
- NP_001394905.1:p.Ile571=
- NP_001394906.1:p.Ile571=
- NP_001394907.1:p.Ile571=
- NP_001394908.1:p.Ile570=
- NP_001394909.1:p.Ile570=
- NP_001394910.1:p.Ile570=
- NP_001394911.1:p.Ile570=
- NP_001394912.1:p.Ile570=
- NP_001394913.1:p.Ile570=
- NP_001394914.1:p.Ile570=
- NP_001394915.1:p.Ile570=
- NP_001394919.1:p.Ile570=
- NP_001394920.1:p.Ile570=
- NP_001394921.1:p.Ile570=
- NP_001394922.1:p.Ile570=
- NP_001395321.1:p.Ile569=
- NP_001395325.1:p.Ile569=
- NP_001395326.1:p.Ile569=
- NP_001395327.1:p.Ile569=
- NP_001395328.1:p.Ile569=
- NP_001395329.1:p.Ile569=
- NP_001395330.1:p.Ile569=
- NP_001395331.1:p.Ile569=
- NP_001395332.1:p.Ile569=
- NP_001395333.1:p.Ile569=
- NP_001395335.1:p.Ile568=
- NP_001395336.1:p.Ile568=
- NP_001395337.1:p.Ile568=
- NP_001395338.1:p.Ile567=
- NP_001395339.1:p.Ile546=
- NP_001395340.1:p.Ile545=
- NP_001395341.1:p.Ile544=
- NP_001395342.1:p.Ile544=
- NP_001395343.1:p.Ile544=
- NP_001395344.1:p.Ile544=
- NP_001395345.1:p.Ile544=
- NP_001395347.1:p.Ile532=
- NP_001395348.1:p.Ile532=
- NP_001395349.1:p.Ile532=
- NP_001395350.1:p.Ile531=
- NP_001395351.1:p.Ile531=
- NP_001395352.1:p.Ile531=
- NP_001395353.1:p.Ile531=
- NP_001395354.1:p.Ile530=
- NP_001395355.1:p.Ile530=
- NP_001395356.1:p.Ile530=
- NP_001395357.1:p.Ile530=
- NP_001395358.1:p.Ile530=
- NP_001395359.1:p.Ile530=
- NP_001395360.1:p.Ile530=
- NP_001395361.1:p.Ile529=
- NP_001395362.1:p.Ile529=
- NP_001395363.1:p.Ile529=
- NP_001395364.1:p.Ile529=
- NP_001395365.1:p.Ile529=
- NP_001395366.1:p.Ile529=
- NP_001395367.1:p.Ile529=
- NP_001395368.1:p.Ile529=
- NP_001395369.1:p.Ile529=
- NP_001395370.1:p.Ile529=
- NP_001395371.1:p.Ile529=
- NP_001395372.1:p.Ile529=
- NP_001395373.1:p.Ile529=
- NP_001395374.1:p.Ile528=
- NP_001395375.1:p.Ile528=
- NP_001395376.1:p.Ile528=
- NP_001395377.1:p.Ile528=
- NP_001395379.1:p.Ile528=
- NP_001395380.1:p.Ile526=
- NP_001395381.1:p.Ile524=
- NP_001395382.1:p.Ile524=
- NP_001395383.1:p.Ile524=
- NP_001395384.1:p.Ile524=
- NP_001395385.1:p.Ile524=
- NP_001395386.1:p.Ile524=
- NP_001395387.1:p.Ile523=
- NP_001395388.1:p.Ile523=
- NP_001395389.1:p.Ile523=
- NP_001395390.1:p.Ile523=
- NP_001395391.1:p.Ile523=
- NP_001395392.1:p.Ile523=
- NP_001395393.1:p.Ile523=
- NP_001395394.1:p.Ile523=
- NP_001395395.1:p.Ile523=
- NP_001395396.1:p.Ile523=
- NP_001395397.1:p.Ile522=
- NP_001395398.1:p.Ile522=
- NP_001395399.1:p.Ile522=
- NP_001395401.1:p.Ile570=
- NP_001395402.1:p.Ile569=
- NP_001395403.1:p.Ile504=
- NP_001395404.1:p.Ile503=
- NP_001395405.1:p.Ile503=
- NP_001395407.1:p.Ile501=
- NP_001395408.1:p.Ile501=
- NP_001395409.1:p.Ile501=
- NP_001395410.1:p.Ile500=
- NP_001395411.1:p.Ile500=
- NP_001395412.1:p.Ile500=
- NP_001395413.1:p.Ile500=
- NP_001395414.1:p.Ile500=
- NP_001395418.1:p.Ile500=
- NP_001395419.1:p.Ile500=
- NP_001395420.1:p.Ile500=
- NP_001395421.1:p.Ile499=
- NP_001395422.1:p.Ile499=
- NP_001395423.1:p.Ile491=
- NP_001395424.1:p.Ile489=
- NP_001395425.1:p.Ile483=
- NP_001395426.1:p.Ile483=
- NP_001395427.1:p.Ile483=
- NP_001395428.1:p.Ile483=
- NP_001395429.1:p.Ile483=
- NP_001395430.1:p.Ile483=
- NP_001395431.1:p.Ile482=
- NP_001395432.1:p.Ile482=
- NP_001395433.1:p.Ile482=
- NP_001395434.1:p.Ile481=
- NP_001395435.1:p.Ile462=
- NP_001395436.1:p.Ile461=
- NP_001395437.1:p.Ile458=
- NP_001395438.1:p.Ile457=
- NP_001395439.1:p.Ile444=
- NP_001395440.1:p.Ile443=
- NP_001395441.1:p.Ile403=
- NP_001395442.1:p.Ile394=
- NP_009225.1:p.Ile1674=
- NP_009225.1:p.Ile1674=
- NP_009228.2:p.Ile1627=
- NP_009229.2:p.Ile570=
- NP_009230.2:p.Ile570=
- NP_009231.2:p.Ile1695=
- NP_009235.2:p.Ile570=
- LRG_292t1:c.5022C>T
- LRG_292:g.150324C>T
- LRG_292p1:p.Ile1674=
- NC_000017.10:g.41219677G>A
- NM_007294.3:c.5022C>T
- NM_007294.4:c.5022C>T
- NR_027676.2:n.5199C>T
- p.I1674I
- p.Ile1674Ile
This HGVS expression did not pass validation- Links:
- dbSNP: rs786203868
- NCBI 1000 Genomes Browser:
- rs786203868
- Molecular consequence:
- NM_001408514.1:c.839-3709C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407571.1:c.4809C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407581.1:c.5088C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407582.1:c.5088C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407583.1:c.5085C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407585.1:c.5085C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407587.1:c.5085C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407590.1:c.5082C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407591.1:c.5082C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407593.1:c.5022C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407594.1:c.5022C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407596.1:c.5022C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407597.1:c.5022C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407598.1:c.5022C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407602.1:c.5022C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407603.1:c.5022C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407605.1:c.5022C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407610.1:c.5019C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407611.1:c.5019C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407612.1:c.5019C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407613.1:c.5019C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407614.1:c.5019C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407615.1:c.5019C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407616.1:c.5019C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407617.1:c.5019C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407618.1:c.5019C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407619.1:c.5019C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407620.1:c.5019C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407621.1:c.5019C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407622.1:c.5019C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407623.1:c.5019C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407624.1:c.5019C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407625.1:c.5019C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407626.1:c.5019C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407627.1:c.5016C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407628.1:c.5016C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407629.1:c.5016C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407630.1:c.5016C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407631.1:c.5016C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407632.1:c.5016C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407633.1:c.5016C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407634.1:c.5016C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407635.1:c.5016C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407636.1:c.5016C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407637.1:c.5016C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407638.1:c.5016C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407639.1:c.5016C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407640.1:c.5016C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407641.1:c.5016C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407642.1:c.5016C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407644.1:c.5013C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407645.1:c.5013C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407646.1:c.5010C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407647.1:c.5007C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407648.1:c.4965C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407649.1:c.4962C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407652.1:c.5022C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407653.1:c.4944C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407654.1:c.4944C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407655.1:c.4944C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407656.1:c.4941C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407657.1:c.4941C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407658.1:c.4941C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407659.1:c.4938C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407660.1:c.4938C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407661.1:c.4938C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407662.1:c.4938C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407663.1:c.4938C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407664.1:c.4899C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407665.1:c.4899C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407666.1:c.4899C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407667.1:c.4899C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407668.1:c.4899C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407669.1:c.4899C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407670.1:c.4896C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407671.1:c.4896C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407672.1:c.4896C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407673.1:c.4896C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407674.1:c.4896C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407675.1:c.4896C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407676.1:c.4896C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407677.1:c.4896C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407678.1:c.4896C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407679.1:c.4896C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407680.1:c.4896C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407681.1:c.4893C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407682.1:c.4893C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407683.1:c.4893C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407684.1:c.5022C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407685.1:c.4893C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407686.1:c.4893C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407687.1:c.4893C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407688.1:c.4893C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407689.1:c.4893C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407690.1:c.4890C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407691.1:c.4890C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407692.1:c.4881C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407694.1:c.4881C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407695.1:c.4881C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407696.1:c.4881C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407697.1:c.4881C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407698.1:c.4881C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407724.1:c.4881C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407725.1:c.4881C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407726.1:c.4881C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407727.1:c.4881C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407728.1:c.4881C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407729.1:c.4881C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407730.1:c.4881C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407731.1:c.4881C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407732.1:c.4878C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407733.1:c.4878C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407734.1:c.4878C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407735.1:c.4878C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407736.1:c.4878C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407737.1:c.4878C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407738.1:c.4878C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407739.1:c.4878C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407740.1:c.4878C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407741.1:c.4878C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407742.1:c.4878C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407743.1:c.4878C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407744.1:c.4878C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407745.1:c.4878C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407746.1:c.4878C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407747.1:c.4878C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407748.1:c.4878C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407749.1:c.4878C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407750.1:c.4878C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407751.1:c.4878C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407752.1:c.4878C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407838.1:c.4875C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407839.1:c.4875C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407841.1:c.4875C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407842.1:c.4875C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407843.1:c.4875C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407844.1:c.4875C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407845.1:c.4875C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407846.1:c.4875C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407847.1:c.4875C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407848.1:c.4875C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407849.1:c.4875C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407850.1:c.4875C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407851.1:c.4875C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407852.1:c.4875C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407853.1:c.4875C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407854.1:c.5022C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407858.1:c.5019C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407859.1:c.5019C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407860.1:c.5019C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407861.1:c.5016C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407862.1:c.4821C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407863.1:c.4896C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407874.1:c.4815C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407875.1:c.4815C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407879.1:c.4812C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407881.1:c.4812C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407882.1:c.4812C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407884.1:c.4812C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407885.1:c.4812C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407886.1:c.4812C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407887.1:c.4812C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407889.1:c.4812C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407894.1:c.4809C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407895.1:c.4809C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407896.1:c.4809C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407897.1:c.4809C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407898.1:c.4809C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407899.1:c.4809C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407900.1:c.4809C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407902.1:c.4809C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407904.1:c.4809C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407906.1:c.4809C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407907.1:c.4809C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407908.1:c.4809C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407909.1:c.4809C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407910.1:c.4809C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407915.1:c.4806C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407916.1:c.4806C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407917.1:c.4806C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407918.1:c.4806C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407919.1:c.4899C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407920.1:c.4758C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407921.1:c.4758C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407922.1:c.4758C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407923.1:c.4758C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407924.1:c.4758C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407925.1:c.4758C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407926.1:c.4758C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407927.1:c.4755C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407928.1:c.4755C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407929.1:c.4755C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407930.1:c.4755C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407931.1:c.4755C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407932.1:c.4755C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407933.1:c.4755C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407934.1:c.4752C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407935.1:c.4752C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407936.1:c.4752C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407937.1:c.4899C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407938.1:c.4899C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407939.1:c.4896C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407940.1:c.4896C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407941.1:c.4893C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407942.1:c.4881C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407943.1:c.4878C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407944.1:c.4878C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407945.1:c.4878C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407946.1:c.4689C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407947.1:c.4689C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407948.1:c.4689C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407949.1:c.4689C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407950.1:c.4686C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407951.1:c.4686C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407952.1:c.4686C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407953.1:c.4686C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407954.1:c.4686C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407955.1:c.4686C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407956.1:c.4683C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407957.1:c.4683C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407958.1:c.4683C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407959.1:c.4641C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407960.1:c.4638C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407962.1:c.4638C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407963.1:c.4635C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407964.1:c.4560C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407965.1:c.4515C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407966.1:c.4134C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407967.1:c.4131C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407968.1:c.2418C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407969.1:c.2415C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407970.1:c.1779C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407971.1:c.1779C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407972.1:c.1776C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407973.1:c.1713C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407974.1:c.1713C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407975.1:c.1713C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407976.1:c.1713C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407977.1:c.1713C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407978.1:c.1713C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407979.1:c.1710C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407980.1:c.1710C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407981.1:c.1710C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407982.1:c.1710C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407983.1:c.1710C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407984.1:c.1710C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407985.1:c.1710C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407986.1:c.1710C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407990.1:c.1710C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407991.1:c.1710C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407992.1:c.1710C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407993.1:c.1710C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408392.1:c.1707C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408396.1:c.1707C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408397.1:c.1707C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408398.1:c.1707C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408399.1:c.1707C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408400.1:c.1707C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408401.1:c.1707C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408402.1:c.1707C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408403.1:c.1707C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408404.1:c.1707C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408406.1:c.1704C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408407.1:c.1704C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408408.1:c.1704C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408409.1:c.1701C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408410.1:c.1638C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408411.1:c.1635C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408412.1:c.1632C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408413.1:c.1632C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408414.1:c.1632C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408415.1:c.1632C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408416.1:c.1632C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408418.1:c.1596C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408419.1:c.1596C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408420.1:c.1596C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408421.1:c.1593C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408422.1:c.1593C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408423.1:c.1593C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408424.1:c.1593C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408425.1:c.1590C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408426.1:c.1590C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408427.1:c.1590C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408428.1:c.1590C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408429.1:c.1590C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408430.1:c.1590C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408431.1:c.1590C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408432.1:c.1587C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408433.1:c.1587C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408434.1:c.1587C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408435.1:c.1587C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408436.1:c.1587C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408437.1:c.1587C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408438.1:c.1587C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408439.1:c.1587C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408440.1:c.1587C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408441.1:c.1587C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408442.1:c.1587C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408443.1:c.1587C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408444.1:c.1587C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408445.1:c.1584C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408446.1:c.1584C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408447.1:c.1584C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408448.1:c.1584C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408450.1:c.1584C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408451.1:c.1578C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408452.1:c.1572C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408453.1:c.1572C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408454.1:c.1572C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408455.1:c.1572C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408456.1:c.1572C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408457.1:c.1572C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408458.1:c.1569C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408459.1:c.1569C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408460.1:c.1569C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408461.1:c.1569C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408462.1:c.1569C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408463.1:c.1569C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408464.1:c.1569C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408465.1:c.1569C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408466.1:c.1569C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408467.1:c.1569C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408468.1:c.1566C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408469.1:c.1566C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408470.1:c.1566C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408472.1:c.1710C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408473.1:c.1707C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408474.1:c.1512C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408475.1:c.1509C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408476.1:c.1509C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408478.1:c.1503C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408479.1:c.1503C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408480.1:c.1503C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408481.1:c.1500C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408482.1:c.1500C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408483.1:c.1500C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408484.1:c.1500C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408485.1:c.1500C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408489.1:c.1500C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408490.1:c.1500C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408491.1:c.1500C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408492.1:c.1497C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408493.1:c.1497C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408494.1:c.1473C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408495.1:c.1467C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408496.1:c.1449C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408497.1:c.1449C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408498.1:c.1449C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408499.1:c.1449C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408500.1:c.1449C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408501.1:c.1449C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408502.1:c.1446C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408503.1:c.1446C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408504.1:c.1446C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408505.1:c.1443C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408506.1:c.1386C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408507.1:c.1383C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408508.1:c.1374C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408509.1:c.1371C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408510.1:c.1332C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408511.1:c.1329C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408512.1:c.1209C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001408513.1:c.1182C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_007294.4:c.5022C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_007297.4:c.4881C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_007298.4:c.1710C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_007299.4:c.1710C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_007300.4:c.5085C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_007304.2:c.1710C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Condition(s)
- Name:
- Breast-ovarian cancer, familial, susceptibility to, 1 (BROVCA1)
- Synonyms:
- OVARIAN CANCER, SUSCEPTIBILITY TO; Breast cancer, familial 1
- Identifiers:
- MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370
- Name:
- Hereditary breast ovarian cancer syndrome
- Synonyms:
- Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV001251323 | King Laboratory, University of Washington | no assertion criteria provided | Pathogenic (Sep 1, 2019) | germline | research |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | yes | not provided | not provided | not provided | not provided | not provided | research |
Citations
PubMed
Characterization of splice-altering mutations in inherited predisposition to cancer.
Casadei S, Gulsuner S, Shirts BH, Mandell JB, Kortbawi HM, Norquist BS, Swisher EM, Lee MK, Goldberg Y, O'Connor R, Tan Z, Pritchard CC, King MC, Walsh T.
Proc Natl Acad Sci U S A. 2019 Dec 26;116(52):26798-26807. doi: 10.1073/pnas.1915608116. Epub 2019 Dec 16.
PubMed [citation]
- PMID:
- 31843900
- PMCID:
- PMC6936554
Details of each submission
From King Laboratory, University of Washington, SCV001251323.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | research | PubMed (1) |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | yes | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
Last Updated: Oct 13, 2024