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NM_007294.4(BRCA1):c.5165C>A (p.Ser1722Tyr) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:
Likely pathogenic (2 submissions)
Last evaluated:
Aug 10, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001077730.5

Allele description [Variation Report for NM_007294.4(BRCA1):c.5165C>A (p.Ser1722Tyr)]

NM_007294.4(BRCA1):c.5165C>A (p.Ser1722Tyr)

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.5165C>A (p.Ser1722Tyr)
HGVS:
  • NC_000017.11:g.43063361G>T
  • NG_005905.2:g.154623C>A
  • NM_001407571.1:c.4952C>A
  • NM_001407581.1:c.5231C>A
  • NM_001407582.1:c.5231C>A
  • NM_001407583.1:c.5228C>A
  • NM_001407585.1:c.5228C>A
  • NM_001407587.1:c.5228C>A
  • NM_001407590.1:c.5225C>A
  • NM_001407591.1:c.5225C>A
  • NM_001407593.1:c.5165C>A
  • NM_001407594.1:c.5165C>A
  • NM_001407596.1:c.5165C>A
  • NM_001407597.1:c.5165C>A
  • NM_001407598.1:c.5165C>A
  • NM_001407602.1:c.5165C>A
  • NM_001407603.1:c.5165C>A
  • NM_001407605.1:c.5165C>A
  • NM_001407610.1:c.5162C>A
  • NM_001407611.1:c.5162C>A
  • NM_001407612.1:c.5162C>A
  • NM_001407613.1:c.5162C>A
  • NM_001407614.1:c.5162C>A
  • NM_001407615.1:c.5162C>A
  • NM_001407616.1:c.5162C>A
  • NM_001407617.1:c.5162C>A
  • NM_001407618.1:c.5162C>A
  • NM_001407619.1:c.5162C>A
  • NM_001407620.1:c.5162C>A
  • NM_001407621.1:c.5162C>A
  • NM_001407622.1:c.5162C>A
  • NM_001407623.1:c.5162C>A
  • NM_001407624.1:c.5162C>A
  • NM_001407625.1:c.5162C>A
  • NM_001407626.1:c.5162C>A
  • NM_001407627.1:c.5159C>A
  • NM_001407628.1:c.5159C>A
  • NM_001407629.1:c.5159C>A
  • NM_001407630.1:c.5159C>A
  • NM_001407631.1:c.5159C>A
  • NM_001407632.1:c.5159C>A
  • NM_001407633.1:c.5159C>A
  • NM_001407634.1:c.5159C>A
  • NM_001407635.1:c.5159C>A
  • NM_001407636.1:c.5159C>A
  • NM_001407637.1:c.5159C>A
  • NM_001407638.1:c.5159C>A
  • NM_001407639.1:c.5159C>A
  • NM_001407640.1:c.5159C>A
  • NM_001407641.1:c.5159C>A
  • NM_001407642.1:c.5159C>A
  • NM_001407644.1:c.5156C>A
  • NM_001407645.1:c.5156C>A
  • NM_001407646.1:c.5153C>A
  • NM_001407647.1:c.5150C>A
  • NM_001407648.1:c.5108C>A
  • NM_001407649.1:c.5105C>A
  • NM_001407652.1:c.5087C>A
  • NM_001407653.1:c.5087C>A
  • NM_001407654.1:c.5087C>A
  • NM_001407655.1:c.5087C>A
  • NM_001407656.1:c.5084C>A
  • NM_001407657.1:c.5084C>A
  • NM_001407658.1:c.5084C>A
  • NM_001407659.1:c.5081C>A
  • NM_001407660.1:c.5081C>A
  • NM_001407661.1:c.5081C>A
  • NM_001407662.1:c.5081C>A
  • NM_001407663.1:c.5081C>A
  • NM_001407664.1:c.5042C>A
  • NM_001407665.1:c.5042C>A
  • NM_001407666.1:c.5042C>A
  • NM_001407667.1:c.5042C>A
  • NM_001407668.1:c.5042C>A
  • NM_001407669.1:c.5042C>A
  • NM_001407670.1:c.5039C>A
  • NM_001407671.1:c.5039C>A
  • NM_001407672.1:c.5039C>A
  • NM_001407673.1:c.5039C>A
  • NM_001407674.1:c.5039C>A
  • NM_001407675.1:c.5039C>A
  • NM_001407676.1:c.5039C>A
  • NM_001407677.1:c.5039C>A
  • NM_001407678.1:c.5039C>A
  • NM_001407679.1:c.5039C>A
  • NM_001407680.1:c.5039C>A
  • NM_001407681.1:c.5036C>A
  • NM_001407682.1:c.5036C>A
  • NM_001407683.1:c.5036C>A
  • NM_001407684.1:c.5165C>A
  • NM_001407685.1:c.5036C>A
  • NM_001407686.1:c.5036C>A
  • NM_001407687.1:c.5036C>A
  • NM_001407688.1:c.5036C>A
  • NM_001407689.1:c.5036C>A
  • NM_001407690.1:c.5033C>A
  • NM_001407691.1:c.5033C>A
  • NM_001407692.1:c.5024C>A
  • NM_001407694.1:c.5024C>A
  • NM_001407695.1:c.5024C>A
  • NM_001407696.1:c.5024C>A
  • NM_001407697.1:c.5024C>A
  • NM_001407698.1:c.5024C>A
  • NM_001407724.1:c.5024C>A
  • NM_001407725.1:c.5024C>A
  • NM_001407726.1:c.5024C>A
  • NM_001407727.1:c.5024C>A
  • NM_001407728.1:c.5024C>A
  • NM_001407729.1:c.5024C>A
  • NM_001407730.1:c.5024C>A
  • NM_001407731.1:c.5024C>A
  • NM_001407732.1:c.5021C>A
  • NM_001407733.1:c.5021C>A
  • NM_001407734.1:c.5021C>A
  • NM_001407735.1:c.5021C>A
  • NM_001407736.1:c.5021C>A
  • NM_001407737.1:c.5021C>A
  • NM_001407738.1:c.5021C>A
  • NM_001407739.1:c.5021C>A
  • NM_001407740.1:c.5021C>A
  • NM_001407741.1:c.5021C>A
  • NM_001407742.1:c.5021C>A
  • NM_001407743.1:c.5021C>A
  • NM_001407744.1:c.5021C>A
  • NM_001407745.1:c.5021C>A
  • NM_001407746.1:c.5021C>A
  • NM_001407747.1:c.5021C>A
  • NM_001407748.1:c.5021C>A
  • NM_001407749.1:c.5021C>A
  • NM_001407750.1:c.5021C>A
  • NM_001407751.1:c.5021C>A
  • NM_001407752.1:c.5021C>A
  • NM_001407838.1:c.5018C>A
  • NM_001407839.1:c.5018C>A
  • NM_001407841.1:c.5018C>A
  • NM_001407842.1:c.5018C>A
  • NM_001407843.1:c.5018C>A
  • NM_001407844.1:c.5018C>A
  • NM_001407845.1:c.5018C>A
  • NM_001407846.1:c.5018C>A
  • NM_001407847.1:c.5018C>A
  • NM_001407848.1:c.5018C>A
  • NM_001407849.1:c.5018C>A
  • NM_001407850.1:c.5018C>A
  • NM_001407851.1:c.5018C>A
  • NM_001407852.1:c.5018C>A
  • NM_001407853.1:c.5018C>A
  • NM_001407854.1:c.5165C>A
  • NM_001407858.1:c.5162C>A
  • NM_001407859.1:c.5162C>A
  • NM_001407860.1:c.5162C>A
  • NM_001407861.1:c.5159C>A
  • NM_001407862.1:c.4964C>A
  • NM_001407863.1:c.4961C>A
  • NM_001407874.1:c.4958C>A
  • NM_001407875.1:c.4958C>A
  • NM_001407879.1:c.4955C>A
  • NM_001407881.1:c.4955C>A
  • NM_001407882.1:c.4955C>A
  • NM_001407884.1:c.4955C>A
  • NM_001407885.1:c.4955C>A
  • NM_001407886.1:c.4955C>A
  • NM_001407887.1:c.4955C>A
  • NM_001407889.1:c.4955C>A
  • NM_001407894.1:c.4952C>A
  • NM_001407895.1:c.4952C>A
  • NM_001407896.1:c.4952C>A
  • NM_001407897.1:c.4952C>A
  • NM_001407898.1:c.4952C>A
  • NM_001407899.1:c.4952C>A
  • NM_001407900.1:c.4952C>A
  • NM_001407902.1:c.4952C>A
  • NM_001407904.1:c.4952C>A
  • NM_001407906.1:c.4952C>A
  • NM_001407907.1:c.4952C>A
  • NM_001407908.1:c.4952C>A
  • NM_001407909.1:c.4952C>A
  • NM_001407910.1:c.4952C>A
  • NM_001407915.1:c.4949C>A
  • NM_001407916.1:c.4949C>A
  • NM_001407917.1:c.4949C>A
  • NM_001407918.1:c.4949C>A
  • NM_001407919.1:c.5042C>A
  • NM_001407920.1:c.4901C>A
  • NM_001407921.1:c.4901C>A
  • NM_001407922.1:c.4901C>A
  • NM_001407923.1:c.4901C>A
  • NM_001407924.1:c.4901C>A
  • NM_001407925.1:c.4901C>A
  • NM_001407926.1:c.4901C>A
  • NM_001407927.1:c.4898C>A
  • NM_001407928.1:c.4898C>A
  • NM_001407929.1:c.4898C>A
  • NM_001407930.1:c.4898C>A
  • NM_001407931.1:c.4898C>A
  • NM_001407932.1:c.4898C>A
  • NM_001407933.1:c.4898C>A
  • NM_001407934.1:c.4895C>A
  • NM_001407935.1:c.4895C>A
  • NM_001407936.1:c.4895C>A
  • NM_001407937.1:c.5042C>A
  • NM_001407938.1:c.5042C>A
  • NM_001407939.1:c.5039C>A
  • NM_001407940.1:c.5039C>A
  • NM_001407941.1:c.5036C>A
  • NM_001407942.1:c.5024C>A
  • NM_001407943.1:c.5021C>A
  • NM_001407944.1:c.5021C>A
  • NM_001407945.1:c.5021C>A
  • NM_001407946.1:c.4832C>A
  • NM_001407947.1:c.4832C>A
  • NM_001407948.1:c.4832C>A
  • NM_001407949.1:c.4832C>A
  • NM_001407950.1:c.4829C>A
  • NM_001407951.1:c.4829C>A
  • NM_001407952.1:c.4829C>A
  • NM_001407953.1:c.4829C>A
  • NM_001407954.1:c.4829C>A
  • NM_001407955.1:c.4829C>A
  • NM_001407956.1:c.4826C>A
  • NM_001407957.1:c.4826C>A
  • NM_001407958.1:c.4826C>A
  • NM_001407959.1:c.4784C>A
  • NM_001407960.1:c.4781C>A
  • NM_001407962.1:c.4781C>A
  • NM_001407963.1:c.4778C>A
  • NM_001407964.1:c.4703C>A
  • NM_001407965.1:c.4658C>A
  • NM_001407966.1:c.4277C>A
  • NM_001407967.1:c.4274C>A
  • NM_001407968.1:c.2561C>A
  • NM_001407969.1:c.2558C>A
  • NM_001407970.1:c.1922C>A
  • NM_001407971.1:c.1922C>A
  • NM_001407972.1:c.1919C>A
  • NM_001407973.1:c.1856C>A
  • NM_001407974.1:c.1856C>A
  • NM_001407975.1:c.1856C>A
  • NM_001407976.1:c.1856C>A
  • NM_001407977.1:c.1856C>A
  • NM_001407978.1:c.1856C>A
  • NM_001407979.1:c.1853C>A
  • NM_001407980.1:c.1853C>A
  • NM_001407981.1:c.1853C>A
  • NM_001407982.1:c.1853C>A
  • NM_001407983.1:c.1853C>A
  • NM_001407984.1:c.1853C>A
  • NM_001407985.1:c.1853C>A
  • NM_001407986.1:c.1853C>A
  • NM_001407990.1:c.1853C>A
  • NM_001407991.1:c.1853C>A
  • NM_001407992.1:c.1853C>A
  • NM_001407993.1:c.1853C>A
  • NM_001408392.1:c.1850C>A
  • NM_001408396.1:c.1850C>A
  • NM_001408397.1:c.1850C>A
  • NM_001408398.1:c.1850C>A
  • NM_001408399.1:c.1850C>A
  • NM_001408400.1:c.1850C>A
  • NM_001408401.1:c.1850C>A
  • NM_001408402.1:c.1850C>A
  • NM_001408403.1:c.1850C>A
  • NM_001408404.1:c.1850C>A
  • NM_001408406.1:c.1847C>A
  • NM_001408407.1:c.1847C>A
  • NM_001408408.1:c.1847C>A
  • NM_001408409.1:c.1844C>A
  • NM_001408410.1:c.1781C>A
  • NM_001408411.1:c.1778C>A
  • NM_001408412.1:c.1775C>A
  • NM_001408413.1:c.1775C>A
  • NM_001408414.1:c.1775C>A
  • NM_001408415.1:c.1775C>A
  • NM_001408416.1:c.1775C>A
  • NM_001408418.1:c.1739C>A
  • NM_001408419.1:c.1739C>A
  • NM_001408420.1:c.1739C>A
  • NM_001408421.1:c.1736C>A
  • NM_001408422.1:c.1736C>A
  • NM_001408423.1:c.1736C>A
  • NM_001408424.1:c.1736C>A
  • NM_001408425.1:c.1733C>A
  • NM_001408426.1:c.1733C>A
  • NM_001408427.1:c.1733C>A
  • NM_001408428.1:c.1733C>A
  • NM_001408429.1:c.1733C>A
  • NM_001408430.1:c.1733C>A
  • NM_001408431.1:c.1733C>A
  • NM_001408432.1:c.1730C>A
  • NM_001408433.1:c.1730C>A
  • NM_001408434.1:c.1730C>A
  • NM_001408435.1:c.1730C>A
  • NM_001408436.1:c.1730C>A
  • NM_001408437.1:c.1730C>A
  • NM_001408438.1:c.1730C>A
  • NM_001408439.1:c.1730C>A
  • NM_001408440.1:c.1730C>A
  • NM_001408441.1:c.1730C>A
  • NM_001408442.1:c.1730C>A
  • NM_001408443.1:c.1730C>A
  • NM_001408444.1:c.1730C>A
  • NM_001408445.1:c.1727C>A
  • NM_001408446.1:c.1727C>A
  • NM_001408447.1:c.1727C>A
  • NM_001408448.1:c.1727C>A
  • NM_001408450.1:c.1727C>A
  • NM_001408451.1:c.1721C>A
  • NM_001408452.1:c.1715C>A
  • NM_001408453.1:c.1715C>A
  • NM_001408454.1:c.1715C>A
  • NM_001408455.1:c.1715C>A
  • NM_001408456.1:c.1715C>A
  • NM_001408457.1:c.1715C>A
  • NM_001408458.1:c.1712C>A
  • NM_001408459.1:c.1712C>A
  • NM_001408460.1:c.1712C>A
  • NM_001408461.1:c.1712C>A
  • NM_001408462.1:c.1712C>A
  • NM_001408463.1:c.1712C>A
  • NM_001408464.1:c.1712C>A
  • NM_001408465.1:c.1712C>A
  • NM_001408466.1:c.1712C>A
  • NM_001408467.1:c.1712C>A
  • NM_001408468.1:c.1709C>A
  • NM_001408469.1:c.1709C>A
  • NM_001408470.1:c.1709C>A
  • NM_001408472.1:c.1853C>A
  • NM_001408473.1:c.1850C>A
  • NM_001408474.1:c.1655C>A
  • NM_001408475.1:c.1652C>A
  • NM_001408476.1:c.1652C>A
  • NM_001408478.1:c.1646C>A
  • NM_001408479.1:c.1646C>A
  • NM_001408480.1:c.1646C>A
  • NM_001408481.1:c.1643C>A
  • NM_001408482.1:c.1643C>A
  • NM_001408483.1:c.1643C>A
  • NM_001408484.1:c.1643C>A
  • NM_001408485.1:c.1643C>A
  • NM_001408489.1:c.1643C>A
  • NM_001408490.1:c.1643C>A
  • NM_001408491.1:c.1643C>A
  • NM_001408492.1:c.1640C>A
  • NM_001408493.1:c.1640C>A
  • NM_001408494.1:c.1616C>A
  • NM_001408495.1:c.1610C>A
  • NM_001408496.1:c.1592C>A
  • NM_001408497.1:c.1592C>A
  • NM_001408498.1:c.1592C>A
  • NM_001408499.1:c.1592C>A
  • NM_001408500.1:c.1592C>A
  • NM_001408501.1:c.1592C>A
  • NM_001408502.1:c.1589C>A
  • NM_001408503.1:c.1589C>A
  • NM_001408504.1:c.1589C>A
  • NM_001408505.1:c.1586C>A
  • NM_001408506.1:c.1529C>A
  • NM_001408507.1:c.1526C>A
  • NM_001408508.1:c.1517C>A
  • NM_001408509.1:c.1514C>A
  • NM_001408510.1:c.1475C>A
  • NM_001408511.1:c.1472C>A
  • NM_001408512.1:c.1352C>A
  • NM_001408513.1:c.1325C>A
  • NM_001408514.1:c.929C>A
  • NM_007294.4:c.5165C>AMANE SELECT
  • NM_007297.4:c.5024C>A
  • NM_007298.4:c.1853C>A
  • NM_007299.4:c.1853C>A
  • NM_007300.4:c.5228C>A
  • NM_007304.2:c.1853C>A
  • NP_001394500.1:p.Ser1651Tyr
  • NP_001394510.1:p.Ser1744Tyr
  • NP_001394511.1:p.Ser1744Tyr
  • NP_001394512.1:p.Ser1743Tyr
  • NP_001394514.1:p.Ser1743Tyr
  • NP_001394516.1:p.Ser1743Tyr
  • NP_001394519.1:p.Ser1742Tyr
  • NP_001394520.1:p.Ser1742Tyr
  • NP_001394522.1:p.Ser1722Tyr
  • NP_001394523.1:p.Ser1722Tyr
  • NP_001394525.1:p.Ser1722Tyr
  • NP_001394526.1:p.Ser1722Tyr
  • NP_001394527.1:p.Ser1722Tyr
  • NP_001394531.1:p.Ser1722Tyr
  • NP_001394532.1:p.Ser1722Tyr
  • NP_001394534.1:p.Ser1722Tyr
  • NP_001394539.1:p.Ser1721Tyr
  • NP_001394540.1:p.Ser1721Tyr
  • NP_001394541.1:p.Ser1721Tyr
  • NP_001394542.1:p.Ser1721Tyr
  • NP_001394543.1:p.Ser1721Tyr
  • NP_001394544.1:p.Ser1721Tyr
  • NP_001394545.1:p.Ser1721Tyr
  • NP_001394546.1:p.Ser1721Tyr
  • NP_001394547.1:p.Ser1721Tyr
  • NP_001394548.1:p.Ser1721Tyr
  • NP_001394549.1:p.Ser1721Tyr
  • NP_001394550.1:p.Ser1721Tyr
  • NP_001394551.1:p.Ser1721Tyr
  • NP_001394552.1:p.Ser1721Tyr
  • NP_001394553.1:p.Ser1721Tyr
  • NP_001394554.1:p.Ser1721Tyr
  • NP_001394555.1:p.Ser1721Tyr
  • NP_001394556.1:p.Ser1720Tyr
  • NP_001394557.1:p.Ser1720Tyr
  • NP_001394558.1:p.Ser1720Tyr
  • NP_001394559.1:p.Ser1720Tyr
  • NP_001394560.1:p.Ser1720Tyr
  • NP_001394561.1:p.Ser1720Tyr
  • NP_001394562.1:p.Ser1720Tyr
  • NP_001394563.1:p.Ser1720Tyr
  • NP_001394564.1:p.Ser1720Tyr
  • NP_001394565.1:p.Ser1720Tyr
  • NP_001394566.1:p.Ser1720Tyr
  • NP_001394567.1:p.Ser1720Tyr
  • NP_001394568.1:p.Ser1720Tyr
  • NP_001394569.1:p.Ser1720Tyr
  • NP_001394570.1:p.Ser1720Tyr
  • NP_001394571.1:p.Ser1720Tyr
  • NP_001394573.1:p.Ser1719Tyr
  • NP_001394574.1:p.Ser1719Tyr
  • NP_001394575.1:p.Ser1718Tyr
  • NP_001394576.1:p.Ser1717Tyr
  • NP_001394577.1:p.Ser1703Tyr
  • NP_001394578.1:p.Ser1702Tyr
  • NP_001394581.1:p.Ser1696Tyr
  • NP_001394582.1:p.Ser1696Tyr
  • NP_001394583.1:p.Ser1696Tyr
  • NP_001394584.1:p.Ser1696Tyr
  • NP_001394585.1:p.Ser1695Tyr
  • NP_001394586.1:p.Ser1695Tyr
  • NP_001394587.1:p.Ser1695Tyr
  • NP_001394588.1:p.Ser1694Tyr
  • NP_001394589.1:p.Ser1694Tyr
  • NP_001394590.1:p.Ser1694Tyr
  • NP_001394591.1:p.Ser1694Tyr
  • NP_001394592.1:p.Ser1694Tyr
  • NP_001394593.1:p.Ser1681Tyr
  • NP_001394594.1:p.Ser1681Tyr
  • NP_001394595.1:p.Ser1681Tyr
  • NP_001394596.1:p.Ser1681Tyr
  • NP_001394597.1:p.Ser1681Tyr
  • NP_001394598.1:p.Ser1681Tyr
  • NP_001394599.1:p.Ser1680Tyr
  • NP_001394600.1:p.Ser1680Tyr
  • NP_001394601.1:p.Ser1680Tyr
  • NP_001394602.1:p.Ser1680Tyr
  • NP_001394603.1:p.Ser1680Tyr
  • NP_001394604.1:p.Ser1680Tyr
  • NP_001394605.1:p.Ser1680Tyr
  • NP_001394606.1:p.Ser1680Tyr
  • NP_001394607.1:p.Ser1680Tyr
  • NP_001394608.1:p.Ser1680Tyr
  • NP_001394609.1:p.Ser1680Tyr
  • NP_001394610.1:p.Ser1679Tyr
  • NP_001394611.1:p.Ser1679Tyr
  • NP_001394612.1:p.Ser1679Tyr
  • NP_001394613.1:p.Ser1722Tyr
  • NP_001394614.1:p.Ser1679Tyr
  • NP_001394615.1:p.Ser1679Tyr
  • NP_001394616.1:p.Ser1679Tyr
  • NP_001394617.1:p.Ser1679Tyr
  • NP_001394618.1:p.Ser1679Tyr
  • NP_001394619.1:p.Ser1678Tyr
  • NP_001394620.1:p.Ser1678Tyr
  • NP_001394621.1:p.Ser1675Tyr
  • NP_001394623.1:p.Ser1675Tyr
  • NP_001394624.1:p.Ser1675Tyr
  • NP_001394625.1:p.Ser1675Tyr
  • NP_001394626.1:p.Ser1675Tyr
  • NP_001394627.1:p.Ser1675Tyr
  • NP_001394653.1:p.Ser1675Tyr
  • NP_001394654.1:p.Ser1675Tyr
  • NP_001394655.1:p.Ser1675Tyr
  • NP_001394656.1:p.Ser1675Tyr
  • NP_001394657.1:p.Ser1675Tyr
  • NP_001394658.1:p.Ser1675Tyr
  • NP_001394659.1:p.Ser1675Tyr
  • NP_001394660.1:p.Ser1675Tyr
  • NP_001394661.1:p.Ser1674Tyr
  • NP_001394662.1:p.Ser1674Tyr
  • NP_001394663.1:p.Ser1674Tyr
  • NP_001394664.1:p.Ser1674Tyr
  • NP_001394665.1:p.Ser1674Tyr
  • NP_001394666.1:p.Ser1674Tyr
  • NP_001394667.1:p.Ser1674Tyr
  • NP_001394668.1:p.Ser1674Tyr
  • NP_001394669.1:p.Ser1674Tyr
  • NP_001394670.1:p.Ser1674Tyr
  • NP_001394671.1:p.Ser1674Tyr
  • NP_001394672.1:p.Ser1674Tyr
  • NP_001394673.1:p.Ser1674Tyr
  • NP_001394674.1:p.Ser1674Tyr
  • NP_001394675.1:p.Ser1674Tyr
  • NP_001394676.1:p.Ser1674Tyr
  • NP_001394677.1:p.Ser1674Tyr
  • NP_001394678.1:p.Ser1674Tyr
  • NP_001394679.1:p.Ser1674Tyr
  • NP_001394680.1:p.Ser1674Tyr
  • NP_001394681.1:p.Ser1674Tyr
  • NP_001394767.1:p.Ser1673Tyr
  • NP_001394768.1:p.Ser1673Tyr
  • NP_001394770.1:p.Ser1673Tyr
  • NP_001394771.1:p.Ser1673Tyr
  • NP_001394772.1:p.Ser1673Tyr
  • NP_001394773.1:p.Ser1673Tyr
  • NP_001394774.1:p.Ser1673Tyr
  • NP_001394775.1:p.Ser1673Tyr
  • NP_001394776.1:p.Ser1673Tyr
  • NP_001394777.1:p.Ser1673Tyr
  • NP_001394778.1:p.Ser1673Tyr
  • NP_001394779.1:p.Ser1673Tyr
  • NP_001394780.1:p.Ser1673Tyr
  • NP_001394781.1:p.Ser1673Tyr
  • NP_001394782.1:p.Ser1673Tyr
  • NP_001394783.1:p.Ser1722Tyr
  • NP_001394787.1:p.Ser1721Tyr
  • NP_001394788.1:p.Ser1721Tyr
  • NP_001394789.1:p.Ser1721Tyr
  • NP_001394790.1:p.Ser1720Tyr
  • NP_001394791.1:p.Ser1655Tyr
  • NP_001394792.1:p.Ser1654Tyr
  • NP_001394803.1:p.Ser1653Tyr
  • NP_001394804.1:p.Ser1653Tyr
  • NP_001394808.1:p.Ser1652Tyr
  • NP_001394810.1:p.Ser1652Tyr
  • NP_001394811.1:p.Ser1652Tyr
  • NP_001394813.1:p.Ser1652Tyr
  • NP_001394814.1:p.Ser1652Tyr
  • NP_001394815.1:p.Ser1652Tyr
  • NP_001394816.1:p.Ser1652Tyr
  • NP_001394818.1:p.Ser1652Tyr
  • NP_001394823.1:p.Ser1651Tyr
  • NP_001394824.1:p.Ser1651Tyr
  • NP_001394825.1:p.Ser1651Tyr
  • NP_001394826.1:p.Ser1651Tyr
  • NP_001394827.1:p.Ser1651Tyr
  • NP_001394828.1:p.Ser1651Tyr
  • NP_001394829.1:p.Ser1651Tyr
  • NP_001394831.1:p.Ser1651Tyr
  • NP_001394833.1:p.Ser1651Tyr
  • NP_001394835.1:p.Ser1651Tyr
  • NP_001394836.1:p.Ser1651Tyr
  • NP_001394837.1:p.Ser1651Tyr
  • NP_001394838.1:p.Ser1651Tyr
  • NP_001394839.1:p.Ser1651Tyr
  • NP_001394844.1:p.Ser1650Tyr
  • NP_001394845.1:p.Ser1650Tyr
  • NP_001394846.1:p.Ser1650Tyr
  • NP_001394847.1:p.Ser1650Tyr
  • NP_001394848.1:p.Ser1681Tyr
  • NP_001394849.1:p.Ser1634Tyr
  • NP_001394850.1:p.Ser1634Tyr
  • NP_001394851.1:p.Ser1634Tyr
  • NP_001394852.1:p.Ser1634Tyr
  • NP_001394853.1:p.Ser1634Tyr
  • NP_001394854.1:p.Ser1634Tyr
  • NP_001394855.1:p.Ser1634Tyr
  • NP_001394856.1:p.Ser1633Tyr
  • NP_001394857.1:p.Ser1633Tyr
  • NP_001394858.1:p.Ser1633Tyr
  • NP_001394859.1:p.Ser1633Tyr
  • NP_001394860.1:p.Ser1633Tyr
  • NP_001394861.1:p.Ser1633Tyr
  • NP_001394862.1:p.Ser1633Tyr
  • NP_001394863.1:p.Ser1632Tyr
  • NP_001394864.1:p.Ser1632Tyr
  • NP_001394865.1:p.Ser1632Tyr
  • NP_001394866.1:p.Ser1681Tyr
  • NP_001394867.1:p.Ser1681Tyr
  • NP_001394868.1:p.Ser1680Tyr
  • NP_001394869.1:p.Ser1680Tyr
  • NP_001394870.1:p.Ser1679Tyr
  • NP_001394871.1:p.Ser1675Tyr
  • NP_001394872.1:p.Ser1674Tyr
  • NP_001394873.1:p.Ser1674Tyr
  • NP_001394874.1:p.Ser1674Tyr
  • NP_001394875.1:p.Ser1611Tyr
  • NP_001394876.1:p.Ser1611Tyr
  • NP_001394877.1:p.Ser1611Tyr
  • NP_001394878.1:p.Ser1611Tyr
  • NP_001394879.1:p.Ser1610Tyr
  • NP_001394880.1:p.Ser1610Tyr
  • NP_001394881.1:p.Ser1610Tyr
  • NP_001394882.1:p.Ser1610Tyr
  • NP_001394883.1:p.Ser1610Tyr
  • NP_001394884.1:p.Ser1610Tyr
  • NP_001394885.1:p.Ser1609Tyr
  • NP_001394886.1:p.Ser1609Tyr
  • NP_001394887.1:p.Ser1609Tyr
  • NP_001394888.1:p.Ser1595Tyr
  • NP_001394889.1:p.Ser1594Tyr
  • NP_001394891.1:p.Ser1594Tyr
  • NP_001394892.1:p.Ser1593Tyr
  • NP_001394893.1:p.Ser1568Tyr
  • NP_001394894.1:p.Ser1553Tyr
  • NP_001394895.1:p.Ser1426Tyr
  • NP_001394896.1:p.Ser1425Tyr
  • NP_001394897.1:p.Ser854Tyr
  • NP_001394898.1:p.Ser853Tyr
  • NP_001394899.1:p.Ser641Tyr
  • NP_001394900.1:p.Ser641Tyr
  • NP_001394901.1:p.Ser640Tyr
  • NP_001394902.1:p.Ser619Tyr
  • NP_001394903.1:p.Ser619Tyr
  • NP_001394904.1:p.Ser619Tyr
  • NP_001394905.1:p.Ser619Tyr
  • NP_001394906.1:p.Ser619Tyr
  • NP_001394907.1:p.Ser619Tyr
  • NP_001394908.1:p.Ser618Tyr
  • NP_001394909.1:p.Ser618Tyr
  • NP_001394910.1:p.Ser618Tyr
  • NP_001394911.1:p.Ser618Tyr
  • NP_001394912.1:p.Ser618Tyr
  • NP_001394913.1:p.Ser618Tyr
  • NP_001394914.1:p.Ser618Tyr
  • NP_001394915.1:p.Ser618Tyr
  • NP_001394919.1:p.Ser618Tyr
  • NP_001394920.1:p.Ser618Tyr
  • NP_001394921.1:p.Ser618Tyr
  • NP_001394922.1:p.Ser618Tyr
  • NP_001395321.1:p.Ser617Tyr
  • NP_001395325.1:p.Ser617Tyr
  • NP_001395326.1:p.Ser617Tyr
  • NP_001395327.1:p.Ser617Tyr
  • NP_001395328.1:p.Ser617Tyr
  • NP_001395329.1:p.Ser617Tyr
  • NP_001395330.1:p.Ser617Tyr
  • NP_001395331.1:p.Ser617Tyr
  • NP_001395332.1:p.Ser617Tyr
  • NP_001395333.1:p.Ser617Tyr
  • NP_001395335.1:p.Ser616Tyr
  • NP_001395336.1:p.Ser616Tyr
  • NP_001395337.1:p.Ser616Tyr
  • NP_001395338.1:p.Ser615Tyr
  • NP_001395339.1:p.Ser594Tyr
  • NP_001395340.1:p.Ser593Tyr
  • NP_001395341.1:p.Ser592Tyr
  • NP_001395342.1:p.Ser592Tyr
  • NP_001395343.1:p.Ser592Tyr
  • NP_001395344.1:p.Ser592Tyr
  • NP_001395345.1:p.Ser592Tyr
  • NP_001395347.1:p.Ser580Tyr
  • NP_001395348.1:p.Ser580Tyr
  • NP_001395349.1:p.Ser580Tyr
  • NP_001395350.1:p.Ser579Tyr
  • NP_001395351.1:p.Ser579Tyr
  • NP_001395352.1:p.Ser579Tyr
  • NP_001395353.1:p.Ser579Tyr
  • NP_001395354.1:p.Ser578Tyr
  • NP_001395355.1:p.Ser578Tyr
  • NP_001395356.1:p.Ser578Tyr
  • NP_001395357.1:p.Ser578Tyr
  • NP_001395358.1:p.Ser578Tyr
  • NP_001395359.1:p.Ser578Tyr
  • NP_001395360.1:p.Ser578Tyr
  • NP_001395361.1:p.Ser577Tyr
  • NP_001395362.1:p.Ser577Tyr
  • NP_001395363.1:p.Ser577Tyr
  • NP_001395364.1:p.Ser577Tyr
  • NP_001395365.1:p.Ser577Tyr
  • NP_001395366.1:p.Ser577Tyr
  • NP_001395367.1:p.Ser577Tyr
  • NP_001395368.1:p.Ser577Tyr
  • NP_001395369.1:p.Ser577Tyr
  • NP_001395370.1:p.Ser577Tyr
  • NP_001395371.1:p.Ser577Tyr
  • NP_001395372.1:p.Ser577Tyr
  • NP_001395373.1:p.Ser577Tyr
  • NP_001395374.1:p.Ser576Tyr
  • NP_001395375.1:p.Ser576Tyr
  • NP_001395376.1:p.Ser576Tyr
  • NP_001395377.1:p.Ser576Tyr
  • NP_001395379.1:p.Ser576Tyr
  • NP_001395380.1:p.Ser574Tyr
  • NP_001395381.1:p.Ser572Tyr
  • NP_001395382.1:p.Ser572Tyr
  • NP_001395383.1:p.Ser572Tyr
  • NP_001395384.1:p.Ser572Tyr
  • NP_001395385.1:p.Ser572Tyr
  • NP_001395386.1:p.Ser572Tyr
  • NP_001395387.1:p.Ser571Tyr
  • NP_001395388.1:p.Ser571Tyr
  • NP_001395389.1:p.Ser571Tyr
  • NP_001395390.1:p.Ser571Tyr
  • NP_001395391.1:p.Ser571Tyr
  • NP_001395392.1:p.Ser571Tyr
  • NP_001395393.1:p.Ser571Tyr
  • NP_001395394.1:p.Ser571Tyr
  • NP_001395395.1:p.Ser571Tyr
  • NP_001395396.1:p.Ser571Tyr
  • NP_001395397.1:p.Ser570Tyr
  • NP_001395398.1:p.Ser570Tyr
  • NP_001395399.1:p.Ser570Tyr
  • NP_001395401.1:p.Ser618Tyr
  • NP_001395402.1:p.Ser617Tyr
  • NP_001395403.1:p.Ser552Tyr
  • NP_001395404.1:p.Ser551Tyr
  • NP_001395405.1:p.Ser551Tyr
  • NP_001395407.1:p.Ser549Tyr
  • NP_001395408.1:p.Ser549Tyr
  • NP_001395409.1:p.Ser549Tyr
  • NP_001395410.1:p.Ser548Tyr
  • NP_001395411.1:p.Ser548Tyr
  • NP_001395412.1:p.Ser548Tyr
  • NP_001395413.1:p.Ser548Tyr
  • NP_001395414.1:p.Ser548Tyr
  • NP_001395418.1:p.Ser548Tyr
  • NP_001395419.1:p.Ser548Tyr
  • NP_001395420.1:p.Ser548Tyr
  • NP_001395421.1:p.Ser547Tyr
  • NP_001395422.1:p.Ser547Tyr
  • NP_001395423.1:p.Ser539Tyr
  • NP_001395424.1:p.Ser537Tyr
  • NP_001395425.1:p.Ser531Tyr
  • NP_001395426.1:p.Ser531Tyr
  • NP_001395427.1:p.Ser531Tyr
  • NP_001395428.1:p.Ser531Tyr
  • NP_001395429.1:p.Ser531Tyr
  • NP_001395430.1:p.Ser531Tyr
  • NP_001395431.1:p.Ser530Tyr
  • NP_001395432.1:p.Ser530Tyr
  • NP_001395433.1:p.Ser530Tyr
  • NP_001395434.1:p.Ser529Tyr
  • NP_001395435.1:p.Ser510Tyr
  • NP_001395436.1:p.Ser509Tyr
  • NP_001395437.1:p.Ser506Tyr
  • NP_001395438.1:p.Ser505Tyr
  • NP_001395439.1:p.Ser492Tyr
  • NP_001395440.1:p.Ser491Tyr
  • NP_001395441.1:p.Ser451Tyr
  • NP_001395442.1:p.Ser442Tyr
  • NP_001395443.1:p.Ser310Tyr
  • NP_009225.1:p.Ser1722Tyr
  • NP_009225.1:p.Ser1722Tyr
  • NP_009228.2:p.Ser1675Tyr
  • NP_009229.2:p.Ser618Tyr
  • NP_009229.2:p.Ser618Tyr
  • NP_009230.2:p.Ser618Tyr
  • NP_009231.2:p.Ser1743Tyr
  • NP_009235.2:p.Ser618Tyr
  • LRG_292t1:c.5165C>A
  • LRG_292:g.154623C>A
  • LRG_292p1:p.Ser1722Tyr
  • NC_000017.10:g.41215378G>T
  • NM_007294.3:c.5165C>A
  • NM_007298.3:c.1853C>A
  • NR_027676.2:n.5342C>A
Protein change:
S1425Y
Links:
dbSNP: rs80357104
NCBI 1000 Genomes Browser:
rs80357104
Molecular consequence:
  • NM_001407571.1:c.4952C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.5231C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.5231C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.5228C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.5228C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.5228C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.5225C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.5225C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.5165C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.5165C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.5165C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.5165C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.5165C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.5165C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.5165C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.5165C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.5162C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.5162C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.5162C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.5162C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.5162C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.5162C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.5162C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.5162C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.5162C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.5162C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.5162C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.5162C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.5162C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.5162C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.5162C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.5162C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.5162C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.5159C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.5159C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.5159C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.5159C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.5159C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.5159C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.5159C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.5159C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.5159C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.5159C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.5159C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.5159C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.5159C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.5159C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.5159C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.5159C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.5156C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.5156C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.5153C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.5150C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.5108C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.5105C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.5087C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.5087C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.5087C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.5087C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.5084C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.5084C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.5084C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.5081C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.5081C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.5081C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.5081C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.5081C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.5042C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.5042C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.5042C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.5042C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.5042C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.5042C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.5039C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.5039C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.5039C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.5039C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.5039C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.5039C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.5039C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.5039C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.5039C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.5039C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.5039C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.5036C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.5036C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.5036C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.5165C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.5036C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.5036C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.5036C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.5036C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.5036C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.5033C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.5033C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.5024C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.5024C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.5024C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.5024C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.5024C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.5024C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.5024C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.5024C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.5024C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.5024C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.5024C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.5024C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.5024C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.5024C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.5021C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.5021C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.5021C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.5021C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.5021C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.5021C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.5021C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.5021C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.5021C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.5021C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.5021C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.5021C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.5021C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.5021C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.5021C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.5021C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.5021C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.5021C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.5021C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.5021C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.5021C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.5018C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.5018C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.5018C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.5018C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.5018C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.5018C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.5018C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.5018C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.5018C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.5018C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.5018C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.5018C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.5018C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.5018C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.5018C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.5165C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.5162C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.5162C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.5162C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.5159C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.4964C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.4961C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.4958C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.4958C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.4955C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.4955C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.4955C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.4955C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.4955C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.4955C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.4955C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.4955C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.4952C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.4952C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.4952C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.4952C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.4952C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.4952C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.4952C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.4952C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.4952C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.4952C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.4952C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.4952C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.4952C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.4952C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.4949C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.4949C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.4949C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.4949C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.5042C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.4901C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.4901C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.4901C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.4901C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.4901C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.4901C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.4901C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.4898C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.4898C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.4898C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.4898C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.4898C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.4898C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.4898C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.4895C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.4895C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.4895C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.5042C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.5042C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.5039C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.5039C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.5036C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.5024C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.5021C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.5021C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.5021C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.4832C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.4832C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.4832C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.4832C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.4829C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.4829C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.4829C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.4829C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.4829C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.4829C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.4826C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.4826C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.4826C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.4784C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.4781C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.4781C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.4778C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.4703C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.4658C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.4277C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.4274C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.2561C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.2558C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.1922C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.1922C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.1919C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.1856C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.1856C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.1856C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.1856C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.1856C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.1856C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.1853C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.1853C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.1853C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.1853C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.1853C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.1853C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.1853C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.1853C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.1853C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.1853C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.1853C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.1853C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.1850C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.1850C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.1850C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.1850C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.1850C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.1850C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.1850C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.1850C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.1850C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.1850C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.1847C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.1847C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.1847C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.1844C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408410.1:c.1781C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.1778C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.1775C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.1775C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.1775C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.1775C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.1775C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.1739C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.1739C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.1739C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.1736C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.1736C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.1736C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.1736C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.1733C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.1733C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.1733C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.1733C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.1733C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.1733C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.1733C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.1730C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.1730C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.1730C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.1730C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.1730C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.1730C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.1730C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.1730C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.1730C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.1730C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.1730C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.1730C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.1730C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.1727C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.1727C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.1727C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.1727C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.1727C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408451.1:c.1721C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408452.1:c.1715C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408453.1:c.1715C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408454.1:c.1715C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408455.1:c.1715C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408456.1:c.1715C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408457.1:c.1715C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408458.1:c.1712C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408459.1:c.1712C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408460.1:c.1712C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408461.1:c.1712C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408462.1:c.1712C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408463.1:c.1712C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408464.1:c.1712C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408465.1:c.1712C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408466.1:c.1712C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408467.1:c.1712C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408468.1:c.1709C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408469.1:c.1709C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408470.1:c.1709C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408472.1:c.1853C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408473.1:c.1850C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.1655C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.1652C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.1652C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408478.1:c.1646C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408479.1:c.1646C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408480.1:c.1646C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408481.1:c.1643C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408482.1:c.1643C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408483.1:c.1643C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408484.1:c.1643C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408485.1:c.1643C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408489.1:c.1643C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408490.1:c.1643C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408491.1:c.1643C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408492.1:c.1640C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408493.1:c.1640C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.1616C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.1610C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408496.1:c.1592C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408497.1:c.1592C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408498.1:c.1592C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408499.1:c.1592C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408500.1:c.1592C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408501.1:c.1592C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408502.1:c.1589C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408503.1:c.1589C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408504.1:c.1589C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408505.1:c.1586C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408506.1:c.1529C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408507.1:c.1526C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408508.1:c.1517C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408509.1:c.1514C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408510.1:c.1475C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408511.1:c.1472C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408512.1:c.1352C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408513.1:c.1325C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408514.1:c.929C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.5165C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.5024C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.1853C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.1853C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.5228C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.1853C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.5342C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Functional consequence:
function_uncertain_variant [Sequence Ontology: SO:0002220] - Comment(s)
Observations:
2

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001243707Brotman Baty Institute, University of Washington
no classification provided
not providednot applicablein vitro

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

Citation Link,

SCV002578947MGZ Medical Genetics Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Aug 10, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot applicablenot applicablenot providednot providednot providednot providednot providedin vitro
not providedgermlineyes2not providednot providednot providednot providedclinical testing

Citations

PubMed

Accurate classification of BRCA1 variants with saturation genome editing.

Findlay GM, Daza RM, Martin B, Zhang MD, Leith AP, Gasperini M, Janizek JD, Huang X, Starita LM, Shendure J.

Nature. 2018 Oct;562(7726):217-222. doi: 10.1038/s41586-018-0461-z. Epub 2018 Sep 12.

PubMed [citation]
PMID:
30209399
PMCID:
PMC6181777

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Brotman Baty Institute, University of Washington, SCV001243707.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedin vitro PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not applicablenot applicablenot providednot providednot providednot providednot providednot providednot provided

From MGZ Medical Genetics Center, SCV002578947.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Oct 8, 2024