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NM_007294.4(BRCA1):c.5036T>C (p.Leu1679Pro) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 23, 2023
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:
RCV002478710.9

Allele description [Variation Report for NM_007294.4(BRCA1):c.5036T>C (p.Leu1679Pro)]

NM_007294.4(BRCA1):c.5036T>C (p.Leu1679Pro)

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.5036T>C (p.Leu1679Pro)
HGVS:
  • NC_000017.11:g.43067646A>G
  • NG_005905.2:g.150338T>C
  • NM_001407571.1:c.4823T>C
  • NM_001407581.1:c.5102T>C
  • NM_001407582.1:c.5102T>C
  • NM_001407583.1:c.5099T>C
  • NM_001407585.1:c.5099T>C
  • NM_001407587.1:c.5099T>C
  • NM_001407590.1:c.5096T>C
  • NM_001407591.1:c.5096T>C
  • NM_001407593.1:c.5036T>C
  • NM_001407594.1:c.5036T>C
  • NM_001407596.1:c.5036T>C
  • NM_001407597.1:c.5036T>C
  • NM_001407598.1:c.5036T>C
  • NM_001407602.1:c.5036T>C
  • NM_001407603.1:c.5036T>C
  • NM_001407605.1:c.5036T>C
  • NM_001407610.1:c.5033T>C
  • NM_001407611.1:c.5033T>C
  • NM_001407612.1:c.5033T>C
  • NM_001407613.1:c.5033T>C
  • NM_001407614.1:c.5033T>C
  • NM_001407615.1:c.5033T>C
  • NM_001407616.1:c.5033T>C
  • NM_001407617.1:c.5033T>C
  • NM_001407618.1:c.5033T>C
  • NM_001407619.1:c.5033T>C
  • NM_001407620.1:c.5033T>C
  • NM_001407621.1:c.5033T>C
  • NM_001407622.1:c.5033T>C
  • NM_001407623.1:c.5033T>C
  • NM_001407624.1:c.5033T>C
  • NM_001407625.1:c.5033T>C
  • NM_001407626.1:c.5033T>C
  • NM_001407627.1:c.5030T>C
  • NM_001407628.1:c.5030T>C
  • NM_001407629.1:c.5030T>C
  • NM_001407630.1:c.5030T>C
  • NM_001407631.1:c.5030T>C
  • NM_001407632.1:c.5030T>C
  • NM_001407633.1:c.5030T>C
  • NM_001407634.1:c.5030T>C
  • NM_001407635.1:c.5030T>C
  • NM_001407636.1:c.5030T>C
  • NM_001407637.1:c.5030T>C
  • NM_001407638.1:c.5030T>C
  • NM_001407639.1:c.5030T>C
  • NM_001407640.1:c.5030T>C
  • NM_001407641.1:c.5030T>C
  • NM_001407642.1:c.5030T>C
  • NM_001407644.1:c.5027T>C
  • NM_001407645.1:c.5027T>C
  • NM_001407646.1:c.5024T>C
  • NM_001407647.1:c.5021T>C
  • NM_001407648.1:c.4979T>C
  • NM_001407649.1:c.4976T>C
  • NM_001407652.1:c.5036T>C
  • NM_001407653.1:c.4958T>C
  • NM_001407654.1:c.4958T>C
  • NM_001407655.1:c.4958T>C
  • NM_001407656.1:c.4955T>C
  • NM_001407657.1:c.4955T>C
  • NM_001407658.1:c.4955T>C
  • NM_001407659.1:c.4952T>C
  • NM_001407660.1:c.4952T>C
  • NM_001407661.1:c.4952T>C
  • NM_001407662.1:c.4952T>C
  • NM_001407663.1:c.4952T>C
  • NM_001407664.1:c.4913T>C
  • NM_001407665.1:c.4913T>C
  • NM_001407666.1:c.4913T>C
  • NM_001407667.1:c.4913T>C
  • NM_001407668.1:c.4913T>C
  • NM_001407669.1:c.4913T>C
  • NM_001407670.1:c.4910T>C
  • NM_001407671.1:c.4910T>C
  • NM_001407672.1:c.4910T>C
  • NM_001407673.1:c.4910T>C
  • NM_001407674.1:c.4910T>C
  • NM_001407675.1:c.4910T>C
  • NM_001407676.1:c.4910T>C
  • NM_001407677.1:c.4910T>C
  • NM_001407678.1:c.4910T>C
  • NM_001407679.1:c.4910T>C
  • NM_001407680.1:c.4910T>C
  • NM_001407681.1:c.4907T>C
  • NM_001407682.1:c.4907T>C
  • NM_001407683.1:c.4907T>C
  • NM_001407684.1:c.5036T>C
  • NM_001407685.1:c.4907T>C
  • NM_001407686.1:c.4907T>C
  • NM_001407687.1:c.4907T>C
  • NM_001407688.1:c.4907T>C
  • NM_001407689.1:c.4907T>C
  • NM_001407690.1:c.4904T>C
  • NM_001407691.1:c.4904T>C
  • NM_001407692.1:c.4895T>C
  • NM_001407694.1:c.4895T>C
  • NM_001407695.1:c.4895T>C
  • NM_001407696.1:c.4895T>C
  • NM_001407697.1:c.4895T>C
  • NM_001407698.1:c.4895T>C
  • NM_001407724.1:c.4895T>C
  • NM_001407725.1:c.4895T>C
  • NM_001407726.1:c.4895T>C
  • NM_001407727.1:c.4895T>C
  • NM_001407728.1:c.4895T>C
  • NM_001407729.1:c.4895T>C
  • NM_001407730.1:c.4895T>C
  • NM_001407731.1:c.4895T>C
  • NM_001407732.1:c.4892T>C
  • NM_001407733.1:c.4892T>C
  • NM_001407734.1:c.4892T>C
  • NM_001407735.1:c.4892T>C
  • NM_001407736.1:c.4892T>C
  • NM_001407737.1:c.4892T>C
  • NM_001407738.1:c.4892T>C
  • NM_001407739.1:c.4892T>C
  • NM_001407740.1:c.4892T>C
  • NM_001407741.1:c.4892T>C
  • NM_001407742.1:c.4892T>C
  • NM_001407743.1:c.4892T>C
  • NM_001407744.1:c.4892T>C
  • NM_001407745.1:c.4892T>C
  • NM_001407746.1:c.4892T>C
  • NM_001407747.1:c.4892T>C
  • NM_001407748.1:c.4892T>C
  • NM_001407749.1:c.4892T>C
  • NM_001407750.1:c.4892T>C
  • NM_001407751.1:c.4892T>C
  • NM_001407752.1:c.4892T>C
  • NM_001407838.1:c.4889T>C
  • NM_001407839.1:c.4889T>C
  • NM_001407841.1:c.4889T>C
  • NM_001407842.1:c.4889T>C
  • NM_001407843.1:c.4889T>C
  • NM_001407844.1:c.4889T>C
  • NM_001407845.1:c.4889T>C
  • NM_001407846.1:c.4889T>C
  • NM_001407847.1:c.4889T>C
  • NM_001407848.1:c.4889T>C
  • NM_001407849.1:c.4889T>C
  • NM_001407850.1:c.4889T>C
  • NM_001407851.1:c.4889T>C
  • NM_001407852.1:c.4889T>C
  • NM_001407853.1:c.4889T>C
  • NM_001407854.1:c.5036T>C
  • NM_001407858.1:c.5033T>C
  • NM_001407859.1:c.5033T>C
  • NM_001407860.1:c.5033T>C
  • NM_001407861.1:c.5030T>C
  • NM_001407862.1:c.4835T>C
  • NM_001407863.1:c.4910T>C
  • NM_001407874.1:c.4829T>C
  • NM_001407875.1:c.4829T>C
  • NM_001407879.1:c.4826T>C
  • NM_001407881.1:c.4826T>C
  • NM_001407882.1:c.4826T>C
  • NM_001407884.1:c.4826T>C
  • NM_001407885.1:c.4826T>C
  • NM_001407886.1:c.4826T>C
  • NM_001407887.1:c.4826T>C
  • NM_001407889.1:c.4826T>C
  • NM_001407894.1:c.4823T>C
  • NM_001407895.1:c.4823T>C
  • NM_001407896.1:c.4823T>C
  • NM_001407897.1:c.4823T>C
  • NM_001407898.1:c.4823T>C
  • NM_001407899.1:c.4823T>C
  • NM_001407900.1:c.4823T>C
  • NM_001407902.1:c.4823T>C
  • NM_001407904.1:c.4823T>C
  • NM_001407906.1:c.4823T>C
  • NM_001407907.1:c.4823T>C
  • NM_001407908.1:c.4823T>C
  • NM_001407909.1:c.4823T>C
  • NM_001407910.1:c.4823T>C
  • NM_001407915.1:c.4820T>C
  • NM_001407916.1:c.4820T>C
  • NM_001407917.1:c.4820T>C
  • NM_001407918.1:c.4820T>C
  • NM_001407919.1:c.4913T>C
  • NM_001407920.1:c.4772T>C
  • NM_001407921.1:c.4772T>C
  • NM_001407922.1:c.4772T>C
  • NM_001407923.1:c.4772T>C
  • NM_001407924.1:c.4772T>C
  • NM_001407925.1:c.4772T>C
  • NM_001407926.1:c.4772T>C
  • NM_001407927.1:c.4769T>C
  • NM_001407928.1:c.4769T>C
  • NM_001407929.1:c.4769T>C
  • NM_001407930.1:c.4769T>C
  • NM_001407931.1:c.4769T>C
  • NM_001407932.1:c.4769T>C
  • NM_001407933.1:c.4769T>C
  • NM_001407934.1:c.4766T>C
  • NM_001407935.1:c.4766T>C
  • NM_001407936.1:c.4766T>C
  • NM_001407937.1:c.4913T>C
  • NM_001407938.1:c.4913T>C
  • NM_001407939.1:c.4910T>C
  • NM_001407940.1:c.4910T>C
  • NM_001407941.1:c.4907T>C
  • NM_001407942.1:c.4895T>C
  • NM_001407943.1:c.4892T>C
  • NM_001407944.1:c.4892T>C
  • NM_001407945.1:c.4892T>C
  • NM_001407946.1:c.4703T>C
  • NM_001407947.1:c.4703T>C
  • NM_001407948.1:c.4703T>C
  • NM_001407949.1:c.4703T>C
  • NM_001407950.1:c.4700T>C
  • NM_001407951.1:c.4700T>C
  • NM_001407952.1:c.4700T>C
  • NM_001407953.1:c.4700T>C
  • NM_001407954.1:c.4700T>C
  • NM_001407955.1:c.4700T>C
  • NM_001407956.1:c.4697T>C
  • NM_001407957.1:c.4697T>C
  • NM_001407958.1:c.4697T>C
  • NM_001407959.1:c.4655T>C
  • NM_001407960.1:c.4652T>C
  • NM_001407962.1:c.4652T>C
  • NM_001407963.1:c.4649T>C
  • NM_001407964.1:c.4574T>C
  • NM_001407965.1:c.4529T>C
  • NM_001407966.1:c.4148T>C
  • NM_001407967.1:c.4145T>C
  • NM_001407968.1:c.2432T>C
  • NM_001407969.1:c.2429T>C
  • NM_001407970.1:c.1793T>C
  • NM_001407971.1:c.1793T>C
  • NM_001407972.1:c.1790T>C
  • NM_001407973.1:c.1727T>C
  • NM_001407974.1:c.1727T>C
  • NM_001407975.1:c.1727T>C
  • NM_001407976.1:c.1727T>C
  • NM_001407977.1:c.1727T>C
  • NM_001407978.1:c.1727T>C
  • NM_001407979.1:c.1724T>C
  • NM_001407980.1:c.1724T>C
  • NM_001407981.1:c.1724T>C
  • NM_001407982.1:c.1724T>C
  • NM_001407983.1:c.1724T>C
  • NM_001407984.1:c.1724T>C
  • NM_001407985.1:c.1724T>C
  • NM_001407986.1:c.1724T>C
  • NM_001407990.1:c.1724T>C
  • NM_001407991.1:c.1724T>C
  • NM_001407992.1:c.1724T>C
  • NM_001407993.1:c.1724T>C
  • NM_001408392.1:c.1721T>C
  • NM_001408396.1:c.1721T>C
  • NM_001408397.1:c.1721T>C
  • NM_001408398.1:c.1721T>C
  • NM_001408399.1:c.1721T>C
  • NM_001408400.1:c.1721T>C
  • NM_001408401.1:c.1721T>C
  • NM_001408402.1:c.1721T>C
  • NM_001408403.1:c.1721T>C
  • NM_001408404.1:c.1721T>C
  • NM_001408406.1:c.1718T>C
  • NM_001408407.1:c.1718T>C
  • NM_001408408.1:c.1718T>C
  • NM_001408409.1:c.1715T>C
  • NM_001408410.1:c.1652T>C
  • NM_001408411.1:c.1649T>C
  • NM_001408412.1:c.1646T>C
  • NM_001408413.1:c.1646T>C
  • NM_001408414.1:c.1646T>C
  • NM_001408415.1:c.1646T>C
  • NM_001408416.1:c.1646T>C
  • NM_001408418.1:c.1610T>C
  • NM_001408419.1:c.1610T>C
  • NM_001408420.1:c.1610T>C
  • NM_001408421.1:c.1607T>C
  • NM_001408422.1:c.1607T>C
  • NM_001408423.1:c.1607T>C
  • NM_001408424.1:c.1607T>C
  • NM_001408425.1:c.1604T>C
  • NM_001408426.1:c.1604T>C
  • NM_001408427.1:c.1604T>C
  • NM_001408428.1:c.1604T>C
  • NM_001408429.1:c.1604T>C
  • NM_001408430.1:c.1604T>C
  • NM_001408431.1:c.1604T>C
  • NM_001408432.1:c.1601T>C
  • NM_001408433.1:c.1601T>C
  • NM_001408434.1:c.1601T>C
  • NM_001408435.1:c.1601T>C
  • NM_001408436.1:c.1601T>C
  • NM_001408437.1:c.1601T>C
  • NM_001408438.1:c.1601T>C
  • NM_001408439.1:c.1601T>C
  • NM_001408440.1:c.1601T>C
  • NM_001408441.1:c.1601T>C
  • NM_001408442.1:c.1601T>C
  • NM_001408443.1:c.1601T>C
  • NM_001408444.1:c.1601T>C
  • NM_001408445.1:c.1598T>C
  • NM_001408446.1:c.1598T>C
  • NM_001408447.1:c.1598T>C
  • NM_001408448.1:c.1598T>C
  • NM_001408450.1:c.1598T>C
  • NM_001408451.1:c.1592T>C
  • NM_001408452.1:c.1586T>C
  • NM_001408453.1:c.1586T>C
  • NM_001408454.1:c.1586T>C
  • NM_001408455.1:c.1586T>C
  • NM_001408456.1:c.1586T>C
  • NM_001408457.1:c.1586T>C
  • NM_001408458.1:c.1583T>C
  • NM_001408459.1:c.1583T>C
  • NM_001408460.1:c.1583T>C
  • NM_001408461.1:c.1583T>C
  • NM_001408462.1:c.1583T>C
  • NM_001408463.1:c.1583T>C
  • NM_001408464.1:c.1583T>C
  • NM_001408465.1:c.1583T>C
  • NM_001408466.1:c.1583T>C
  • NM_001408467.1:c.1583T>C
  • NM_001408468.1:c.1580T>C
  • NM_001408469.1:c.1580T>C
  • NM_001408470.1:c.1580T>C
  • NM_001408472.1:c.1724T>C
  • NM_001408473.1:c.1721T>C
  • NM_001408474.1:c.1526T>C
  • NM_001408475.1:c.1523T>C
  • NM_001408476.1:c.1523T>C
  • NM_001408478.1:c.1517T>C
  • NM_001408479.1:c.1517T>C
  • NM_001408480.1:c.1517T>C
  • NM_001408481.1:c.1514T>C
  • NM_001408482.1:c.1514T>C
  • NM_001408483.1:c.1514T>C
  • NM_001408484.1:c.1514T>C
  • NM_001408485.1:c.1514T>C
  • NM_001408489.1:c.1514T>C
  • NM_001408490.1:c.1514T>C
  • NM_001408491.1:c.1514T>C
  • NM_001408492.1:c.1511T>C
  • NM_001408493.1:c.1511T>C
  • NM_001408494.1:c.1487T>C
  • NM_001408495.1:c.1481T>C
  • NM_001408496.1:c.1463T>C
  • NM_001408497.1:c.1463T>C
  • NM_001408498.1:c.1463T>C
  • NM_001408499.1:c.1463T>C
  • NM_001408500.1:c.1463T>C
  • NM_001408501.1:c.1463T>C
  • NM_001408502.1:c.1460T>C
  • NM_001408503.1:c.1460T>C
  • NM_001408504.1:c.1460T>C
  • NM_001408505.1:c.1457T>C
  • NM_001408506.1:c.1400T>C
  • NM_001408507.1:c.1397T>C
  • NM_001408508.1:c.1388T>C
  • NM_001408509.1:c.1385T>C
  • NM_001408510.1:c.1346T>C
  • NM_001408511.1:c.1343T>C
  • NM_001408512.1:c.1223T>C
  • NM_001408513.1:c.1196T>C
  • NM_007294.4:c.5036T>CMANE SELECT
  • NM_007297.4:c.4895T>C
  • NM_007298.4:c.1724T>C
  • NM_007299.4:c.1724T>C
  • NM_007300.4:c.5099T>C
  • NM_007304.2:c.1724T>C
  • NP_001394500.1:p.Leu1608Pro
  • NP_001394510.1:p.Leu1701Pro
  • NP_001394511.1:p.Leu1701Pro
  • NP_001394512.1:p.Leu1700Pro
  • NP_001394514.1:p.Leu1700Pro
  • NP_001394516.1:p.Leu1700Pro
  • NP_001394519.1:p.Leu1699Pro
  • NP_001394520.1:p.Leu1699Pro
  • NP_001394522.1:p.Leu1679Pro
  • NP_001394523.1:p.Leu1679Pro
  • NP_001394525.1:p.Leu1679Pro
  • NP_001394526.1:p.Leu1679Pro
  • NP_001394527.1:p.Leu1679Pro
  • NP_001394531.1:p.Leu1679Pro
  • NP_001394532.1:p.Leu1679Pro
  • NP_001394534.1:p.Leu1679Pro
  • NP_001394539.1:p.Leu1678Pro
  • NP_001394540.1:p.Leu1678Pro
  • NP_001394541.1:p.Leu1678Pro
  • NP_001394542.1:p.Leu1678Pro
  • NP_001394543.1:p.Leu1678Pro
  • NP_001394544.1:p.Leu1678Pro
  • NP_001394545.1:p.Leu1678Pro
  • NP_001394546.1:p.Leu1678Pro
  • NP_001394547.1:p.Leu1678Pro
  • NP_001394548.1:p.Leu1678Pro
  • NP_001394549.1:p.Leu1678Pro
  • NP_001394550.1:p.Leu1678Pro
  • NP_001394551.1:p.Leu1678Pro
  • NP_001394552.1:p.Leu1678Pro
  • NP_001394553.1:p.Leu1678Pro
  • NP_001394554.1:p.Leu1678Pro
  • NP_001394555.1:p.Leu1678Pro
  • NP_001394556.1:p.Leu1677Pro
  • NP_001394557.1:p.Leu1677Pro
  • NP_001394558.1:p.Leu1677Pro
  • NP_001394559.1:p.Leu1677Pro
  • NP_001394560.1:p.Leu1677Pro
  • NP_001394561.1:p.Leu1677Pro
  • NP_001394562.1:p.Leu1677Pro
  • NP_001394563.1:p.Leu1677Pro
  • NP_001394564.1:p.Leu1677Pro
  • NP_001394565.1:p.Leu1677Pro
  • NP_001394566.1:p.Leu1677Pro
  • NP_001394567.1:p.Leu1677Pro
  • NP_001394568.1:p.Leu1677Pro
  • NP_001394569.1:p.Leu1677Pro
  • NP_001394570.1:p.Leu1677Pro
  • NP_001394571.1:p.Leu1677Pro
  • NP_001394573.1:p.Leu1676Pro
  • NP_001394574.1:p.Leu1676Pro
  • NP_001394575.1:p.Leu1675Pro
  • NP_001394576.1:p.Leu1674Pro
  • NP_001394577.1:p.Leu1660Pro
  • NP_001394578.1:p.Leu1659Pro
  • NP_001394581.1:p.Leu1679Pro
  • NP_001394582.1:p.Leu1653Pro
  • NP_001394583.1:p.Leu1653Pro
  • NP_001394584.1:p.Leu1653Pro
  • NP_001394585.1:p.Leu1652Pro
  • NP_001394586.1:p.Leu1652Pro
  • NP_001394587.1:p.Leu1652Pro
  • NP_001394588.1:p.Leu1651Pro
  • NP_001394589.1:p.Leu1651Pro
  • NP_001394590.1:p.Leu1651Pro
  • NP_001394591.1:p.Leu1651Pro
  • NP_001394592.1:p.Leu1651Pro
  • NP_001394593.1:p.Leu1638Pro
  • NP_001394594.1:p.Leu1638Pro
  • NP_001394595.1:p.Leu1638Pro
  • NP_001394596.1:p.Leu1638Pro
  • NP_001394597.1:p.Leu1638Pro
  • NP_001394598.1:p.Leu1638Pro
  • NP_001394599.1:p.Leu1637Pro
  • NP_001394600.1:p.Leu1637Pro
  • NP_001394601.1:p.Leu1637Pro
  • NP_001394602.1:p.Leu1637Pro
  • NP_001394603.1:p.Leu1637Pro
  • NP_001394604.1:p.Leu1637Pro
  • NP_001394605.1:p.Leu1637Pro
  • NP_001394606.1:p.Leu1637Pro
  • NP_001394607.1:p.Leu1637Pro
  • NP_001394608.1:p.Leu1637Pro
  • NP_001394609.1:p.Leu1637Pro
  • NP_001394610.1:p.Leu1636Pro
  • NP_001394611.1:p.Leu1636Pro
  • NP_001394612.1:p.Leu1636Pro
  • NP_001394613.1:p.Leu1679Pro
  • NP_001394614.1:p.Leu1636Pro
  • NP_001394615.1:p.Leu1636Pro
  • NP_001394616.1:p.Leu1636Pro
  • NP_001394617.1:p.Leu1636Pro
  • NP_001394618.1:p.Leu1636Pro
  • NP_001394619.1:p.Leu1635Pro
  • NP_001394620.1:p.Leu1635Pro
  • NP_001394621.1:p.Leu1632Pro
  • NP_001394623.1:p.Leu1632Pro
  • NP_001394624.1:p.Leu1632Pro
  • NP_001394625.1:p.Leu1632Pro
  • NP_001394626.1:p.Leu1632Pro
  • NP_001394627.1:p.Leu1632Pro
  • NP_001394653.1:p.Leu1632Pro
  • NP_001394654.1:p.Leu1632Pro
  • NP_001394655.1:p.Leu1632Pro
  • NP_001394656.1:p.Leu1632Pro
  • NP_001394657.1:p.Leu1632Pro
  • NP_001394658.1:p.Leu1632Pro
  • NP_001394659.1:p.Leu1632Pro
  • NP_001394660.1:p.Leu1632Pro
  • NP_001394661.1:p.Leu1631Pro
  • NP_001394662.1:p.Leu1631Pro
  • NP_001394663.1:p.Leu1631Pro
  • NP_001394664.1:p.Leu1631Pro
  • NP_001394665.1:p.Leu1631Pro
  • NP_001394666.1:p.Leu1631Pro
  • NP_001394667.1:p.Leu1631Pro
  • NP_001394668.1:p.Leu1631Pro
  • NP_001394669.1:p.Leu1631Pro
  • NP_001394670.1:p.Leu1631Pro
  • NP_001394671.1:p.Leu1631Pro
  • NP_001394672.1:p.Leu1631Pro
  • NP_001394673.1:p.Leu1631Pro
  • NP_001394674.1:p.Leu1631Pro
  • NP_001394675.1:p.Leu1631Pro
  • NP_001394676.1:p.Leu1631Pro
  • NP_001394677.1:p.Leu1631Pro
  • NP_001394678.1:p.Leu1631Pro
  • NP_001394679.1:p.Leu1631Pro
  • NP_001394680.1:p.Leu1631Pro
  • NP_001394681.1:p.Leu1631Pro
  • NP_001394767.1:p.Leu1630Pro
  • NP_001394768.1:p.Leu1630Pro
  • NP_001394770.1:p.Leu1630Pro
  • NP_001394771.1:p.Leu1630Pro
  • NP_001394772.1:p.Leu1630Pro
  • NP_001394773.1:p.Leu1630Pro
  • NP_001394774.1:p.Leu1630Pro
  • NP_001394775.1:p.Leu1630Pro
  • NP_001394776.1:p.Leu1630Pro
  • NP_001394777.1:p.Leu1630Pro
  • NP_001394778.1:p.Leu1630Pro
  • NP_001394779.1:p.Leu1630Pro
  • NP_001394780.1:p.Leu1630Pro
  • NP_001394781.1:p.Leu1630Pro
  • NP_001394782.1:p.Leu1630Pro
  • NP_001394783.1:p.Leu1679Pro
  • NP_001394787.1:p.Leu1678Pro
  • NP_001394788.1:p.Leu1678Pro
  • NP_001394789.1:p.Leu1678Pro
  • NP_001394790.1:p.Leu1677Pro
  • NP_001394791.1:p.Leu1612Pro
  • NP_001394792.1:p.Leu1637Pro
  • NP_001394803.1:p.Leu1610Pro
  • NP_001394804.1:p.Leu1610Pro
  • NP_001394808.1:p.Leu1609Pro
  • NP_001394810.1:p.Leu1609Pro
  • NP_001394811.1:p.Leu1609Pro
  • NP_001394813.1:p.Leu1609Pro
  • NP_001394814.1:p.Leu1609Pro
  • NP_001394815.1:p.Leu1609Pro
  • NP_001394816.1:p.Leu1609Pro
  • NP_001394818.1:p.Leu1609Pro
  • NP_001394823.1:p.Leu1608Pro
  • NP_001394824.1:p.Leu1608Pro
  • NP_001394825.1:p.Leu1608Pro
  • NP_001394826.1:p.Leu1608Pro
  • NP_001394827.1:p.Leu1608Pro
  • NP_001394828.1:p.Leu1608Pro
  • NP_001394829.1:p.Leu1608Pro
  • NP_001394831.1:p.Leu1608Pro
  • NP_001394833.1:p.Leu1608Pro
  • NP_001394835.1:p.Leu1608Pro
  • NP_001394836.1:p.Leu1608Pro
  • NP_001394837.1:p.Leu1608Pro
  • NP_001394838.1:p.Leu1608Pro
  • NP_001394839.1:p.Leu1608Pro
  • NP_001394844.1:p.Leu1607Pro
  • NP_001394845.1:p.Leu1607Pro
  • NP_001394846.1:p.Leu1607Pro
  • NP_001394847.1:p.Leu1607Pro
  • NP_001394848.1:p.Leu1638Pro
  • NP_001394849.1:p.Leu1591Pro
  • NP_001394850.1:p.Leu1591Pro
  • NP_001394851.1:p.Leu1591Pro
  • NP_001394852.1:p.Leu1591Pro
  • NP_001394853.1:p.Leu1591Pro
  • NP_001394854.1:p.Leu1591Pro
  • NP_001394855.1:p.Leu1591Pro
  • NP_001394856.1:p.Leu1590Pro
  • NP_001394857.1:p.Leu1590Pro
  • NP_001394858.1:p.Leu1590Pro
  • NP_001394859.1:p.Leu1590Pro
  • NP_001394860.1:p.Leu1590Pro
  • NP_001394861.1:p.Leu1590Pro
  • NP_001394862.1:p.Leu1590Pro
  • NP_001394863.1:p.Leu1589Pro
  • NP_001394864.1:p.Leu1589Pro
  • NP_001394865.1:p.Leu1589Pro
  • NP_001394866.1:p.Leu1638Pro
  • NP_001394867.1:p.Leu1638Pro
  • NP_001394868.1:p.Leu1637Pro
  • NP_001394869.1:p.Leu1637Pro
  • NP_001394870.1:p.Leu1636Pro
  • NP_001394871.1:p.Leu1632Pro
  • NP_001394872.1:p.Leu1631Pro
  • NP_001394873.1:p.Leu1631Pro
  • NP_001394874.1:p.Leu1631Pro
  • NP_001394875.1:p.Leu1568Pro
  • NP_001394876.1:p.Leu1568Pro
  • NP_001394877.1:p.Leu1568Pro
  • NP_001394878.1:p.Leu1568Pro
  • NP_001394879.1:p.Leu1567Pro
  • NP_001394880.1:p.Leu1567Pro
  • NP_001394881.1:p.Leu1567Pro
  • NP_001394882.1:p.Leu1567Pro
  • NP_001394883.1:p.Leu1567Pro
  • NP_001394884.1:p.Leu1567Pro
  • NP_001394885.1:p.Leu1566Pro
  • NP_001394886.1:p.Leu1566Pro
  • NP_001394887.1:p.Leu1566Pro
  • NP_001394888.1:p.Leu1552Pro
  • NP_001394889.1:p.Leu1551Pro
  • NP_001394891.1:p.Leu1551Pro
  • NP_001394892.1:p.Leu1550Pro
  • NP_001394893.1:p.Leu1525Pro
  • NP_001394894.1:p.Leu1510Pro
  • NP_001394895.1:p.Leu1383Pro
  • NP_001394896.1:p.Leu1382Pro
  • NP_001394897.1:p.Leu811Pro
  • NP_001394898.1:p.Leu810Pro
  • NP_001394899.1:p.Leu598Pro
  • NP_001394900.1:p.Leu598Pro
  • NP_001394901.1:p.Leu597Pro
  • NP_001394902.1:p.Leu576Pro
  • NP_001394903.1:p.Leu576Pro
  • NP_001394904.1:p.Leu576Pro
  • NP_001394905.1:p.Leu576Pro
  • NP_001394906.1:p.Leu576Pro
  • NP_001394907.1:p.Leu576Pro
  • NP_001394908.1:p.Leu575Pro
  • NP_001394909.1:p.Leu575Pro
  • NP_001394910.1:p.Leu575Pro
  • NP_001394911.1:p.Leu575Pro
  • NP_001394912.1:p.Leu575Pro
  • NP_001394913.1:p.Leu575Pro
  • NP_001394914.1:p.Leu575Pro
  • NP_001394915.1:p.Leu575Pro
  • NP_001394919.1:p.Leu575Pro
  • NP_001394920.1:p.Leu575Pro
  • NP_001394921.1:p.Leu575Pro
  • NP_001394922.1:p.Leu575Pro
  • NP_001395321.1:p.Leu574Pro
  • NP_001395325.1:p.Leu574Pro
  • NP_001395326.1:p.Leu574Pro
  • NP_001395327.1:p.Leu574Pro
  • NP_001395328.1:p.Leu574Pro
  • NP_001395329.1:p.Leu574Pro
  • NP_001395330.1:p.Leu574Pro
  • NP_001395331.1:p.Leu574Pro
  • NP_001395332.1:p.Leu574Pro
  • NP_001395333.1:p.Leu574Pro
  • NP_001395335.1:p.Leu573Pro
  • NP_001395336.1:p.Leu573Pro
  • NP_001395337.1:p.Leu573Pro
  • NP_001395338.1:p.Leu572Pro
  • NP_001395339.1:p.Leu551Pro
  • NP_001395340.1:p.Leu550Pro
  • NP_001395341.1:p.Leu549Pro
  • NP_001395342.1:p.Leu549Pro
  • NP_001395343.1:p.Leu549Pro
  • NP_001395344.1:p.Leu549Pro
  • NP_001395345.1:p.Leu549Pro
  • NP_001395347.1:p.Leu537Pro
  • NP_001395348.1:p.Leu537Pro
  • NP_001395349.1:p.Leu537Pro
  • NP_001395350.1:p.Leu536Pro
  • NP_001395351.1:p.Leu536Pro
  • NP_001395352.1:p.Leu536Pro
  • NP_001395353.1:p.Leu536Pro
  • NP_001395354.1:p.Leu535Pro
  • NP_001395355.1:p.Leu535Pro
  • NP_001395356.1:p.Leu535Pro
  • NP_001395357.1:p.Leu535Pro
  • NP_001395358.1:p.Leu535Pro
  • NP_001395359.1:p.Leu535Pro
  • NP_001395360.1:p.Leu535Pro
  • NP_001395361.1:p.Leu534Pro
  • NP_001395362.1:p.Leu534Pro
  • NP_001395363.1:p.Leu534Pro
  • NP_001395364.1:p.Leu534Pro
  • NP_001395365.1:p.Leu534Pro
  • NP_001395366.1:p.Leu534Pro
  • NP_001395367.1:p.Leu534Pro
  • NP_001395368.1:p.Leu534Pro
  • NP_001395369.1:p.Leu534Pro
  • NP_001395370.1:p.Leu534Pro
  • NP_001395371.1:p.Leu534Pro
  • NP_001395372.1:p.Leu534Pro
  • NP_001395373.1:p.Leu534Pro
  • NP_001395374.1:p.Leu533Pro
  • NP_001395375.1:p.Leu533Pro
  • NP_001395376.1:p.Leu533Pro
  • NP_001395377.1:p.Leu533Pro
  • NP_001395379.1:p.Leu533Pro
  • NP_001395380.1:p.Leu531Pro
  • NP_001395381.1:p.Leu529Pro
  • NP_001395382.1:p.Leu529Pro
  • NP_001395383.1:p.Leu529Pro
  • NP_001395384.1:p.Leu529Pro
  • NP_001395385.1:p.Leu529Pro
  • NP_001395386.1:p.Leu529Pro
  • NP_001395387.1:p.Leu528Pro
  • NP_001395388.1:p.Leu528Pro
  • NP_001395389.1:p.Leu528Pro
  • NP_001395390.1:p.Leu528Pro
  • NP_001395391.1:p.Leu528Pro
  • NP_001395392.1:p.Leu528Pro
  • NP_001395393.1:p.Leu528Pro
  • NP_001395394.1:p.Leu528Pro
  • NP_001395395.1:p.Leu528Pro
  • NP_001395396.1:p.Leu528Pro
  • NP_001395397.1:p.Leu527Pro
  • NP_001395398.1:p.Leu527Pro
  • NP_001395399.1:p.Leu527Pro
  • NP_001395401.1:p.Leu575Pro
  • NP_001395402.1:p.Leu574Pro
  • NP_001395403.1:p.Leu509Pro
  • NP_001395404.1:p.Leu508Pro
  • NP_001395405.1:p.Leu508Pro
  • NP_001395407.1:p.Leu506Pro
  • NP_001395408.1:p.Leu506Pro
  • NP_001395409.1:p.Leu506Pro
  • NP_001395410.1:p.Leu505Pro
  • NP_001395411.1:p.Leu505Pro
  • NP_001395412.1:p.Leu505Pro
  • NP_001395413.1:p.Leu505Pro
  • NP_001395414.1:p.Leu505Pro
  • NP_001395418.1:p.Leu505Pro
  • NP_001395419.1:p.Leu505Pro
  • NP_001395420.1:p.Leu505Pro
  • NP_001395421.1:p.Leu504Pro
  • NP_001395422.1:p.Leu504Pro
  • NP_001395423.1:p.Leu496Pro
  • NP_001395424.1:p.Leu494Pro
  • NP_001395425.1:p.Leu488Pro
  • NP_001395426.1:p.Leu488Pro
  • NP_001395427.1:p.Leu488Pro
  • NP_001395428.1:p.Leu488Pro
  • NP_001395429.1:p.Leu488Pro
  • NP_001395430.1:p.Leu488Pro
  • NP_001395431.1:p.Leu487Pro
  • NP_001395432.1:p.Leu487Pro
  • NP_001395433.1:p.Leu487Pro
  • NP_001395434.1:p.Leu486Pro
  • NP_001395435.1:p.Leu467Pro
  • NP_001395436.1:p.Leu466Pro
  • NP_001395437.1:p.Leu463Pro
  • NP_001395438.1:p.Leu462Pro
  • NP_001395439.1:p.Leu449Pro
  • NP_001395440.1:p.Leu448Pro
  • NP_001395441.1:p.Leu408Pro
  • NP_001395442.1:p.Leu399Pro
  • NP_009225.1:p.Leu1679Pro
  • NP_009225.1:p.Leu1679Pro
  • NP_009228.2:p.Leu1632Pro
  • NP_009229.2:p.Leu575Pro
  • NP_009229.2:p.Leu575Pro
  • NP_009230.2:p.Leu575Pro
  • NP_009231.2:p.Leu1700Pro
  • NP_009235.2:p.Leu575Pro
  • LRG_292t1:c.5036T>C
  • LRG_292:g.150338T>C
  • LRG_292p1:p.Leu1679Pro
  • NC_000017.10:g.41219663A>G
  • NM_007294.3:c.5036T>C
  • NM_007298.3:c.1724T>C
  • NR_027676.2:n.5213T>C
Protein change:
L1382P
Links:
dbSNP: rs760038328
NCBI 1000 Genomes Browser:
rs760038328
Molecular consequence:
  • NM_001407571.1:c.4823T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.5102T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.5102T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.5099T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.5099T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.5099T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.5096T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.5096T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.5036T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.5036T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.5036T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.5036T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.5036T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.5036T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.5036T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.5036T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.5033T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.5033T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.5033T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.5033T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.5033T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.5033T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.5033T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.5033T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.5033T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.5033T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.5033T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.5033T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.5033T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.5033T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.5033T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.5033T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.5033T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.5030T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.5030T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.5030T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.5030T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.5030T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.5030T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.5030T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.5030T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.5030T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.5030T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.5030T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.5030T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.5030T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.5030T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.5030T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.5030T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.5027T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.5027T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.5024T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.5021T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.4979T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.4976T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.5036T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.4958T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.4958T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.4958T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.4955T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.4955T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.4955T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.4952T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.4952T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.4952T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.4952T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.4952T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.4913T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.4913T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.4913T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.4913T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.4913T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.4913T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.4910T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.4910T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.4910T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.4910T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.4910T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.4910T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.4910T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.4910T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.4910T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.4910T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.4910T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.4907T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.4907T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.4907T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.5036T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.4907T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.4907T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.4907T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.4907T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.4907T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.4904T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.4904T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.4895T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.4895T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.4895T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.4895T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.4895T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.4895T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.4895T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.4895T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.4895T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.4895T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.4895T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.4895T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.4895T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.4895T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.4892T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.4892T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.4892T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.4892T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.4892T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.4892T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.4892T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.4892T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.4892T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.4892T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.4892T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.4892T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.4892T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.4892T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.4892T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.4892T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.4892T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.4892T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.4892T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.4892T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.4892T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.4889T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.4889T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.4889T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.4889T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.4889T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.4889T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.4889T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.4889T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.4889T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.4889T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.4889T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.4889T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.4889T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.4889T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.4889T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.5036T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.5033T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.5033T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.5033T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.5030T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.4835T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.4910T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.4829T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.4829T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.4826T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.4826T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.4826T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.4826T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.4826T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.4826T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.4826T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.4826T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.4823T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.4823T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.4823T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.4823T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.4823T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.4823T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.4823T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.4823T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.4823T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.4823T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.4823T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.4823T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.4823T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.4823T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.4820T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.4820T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.4820T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.4820T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.4913T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.4772T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.4772T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.4772T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.4772T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.4772T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.4772T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.4772T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.4769T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.4769T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.4769T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.4769T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.4769T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.4769T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.4769T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.4766T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.4766T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.4766T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.4913T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.4913T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.4910T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.4910T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.4907T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.4895T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.4892T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.4892T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.4892T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.4703T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.4703T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.4703T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.4703T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.4700T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.4700T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.4700T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.4700T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.4700T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.4700T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.4697T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.4697T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.4697T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.4655T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.4652T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.4652T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.4649T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.4574T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.4529T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.4148T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.4145T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.2432T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.2429T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.1793T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.1793T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.1790T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.1727T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.1727T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.1727T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.1727T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.1727T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.1727T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.1724T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.1724T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.1724T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.1724T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.1724T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.1724T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.1724T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.1724T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.1724T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.1724T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.1724T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.1724T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.1721T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.1721T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.1721T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.1721T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.1721T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.1721T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.1721T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.1721T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.1721T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.1721T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.1718T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.1718T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.1718T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.1715T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408410.1:c.1652T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.1649T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.1646T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.1646T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.1646T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.1646T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.1646T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.1610T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.1610T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.1610T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.1607T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.1607T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.1607T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.1607T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.1604T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.1604T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.1604T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.1604T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.1604T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.1604T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.1604T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.1601T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.1601T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.1601T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.1601T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.1601T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.1601T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.1601T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.1601T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.1601T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.1601T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.1601T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.1601T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.1601T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.1598T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.1598T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.1598T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.1598T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.1598T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408451.1:c.1592T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408452.1:c.1586T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408453.1:c.1586T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408454.1:c.1586T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408455.1:c.1586T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408456.1:c.1586T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408457.1:c.1586T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408458.1:c.1583T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408459.1:c.1583T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408460.1:c.1583T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408461.1:c.1583T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408462.1:c.1583T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408463.1:c.1583T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408464.1:c.1583T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408465.1:c.1583T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408466.1:c.1583T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408467.1:c.1583T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408468.1:c.1580T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408469.1:c.1580T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408470.1:c.1580T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408472.1:c.1724T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408473.1:c.1721T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.1526T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.1523T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.1523T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408478.1:c.1517T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408479.1:c.1517T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408480.1:c.1517T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408481.1:c.1514T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408482.1:c.1514T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408483.1:c.1514T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408484.1:c.1514T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408485.1:c.1514T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408489.1:c.1514T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408490.1:c.1514T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408491.1:c.1514T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408492.1:c.1511T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408493.1:c.1511T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.1487T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.1481T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408496.1:c.1463T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408497.1:c.1463T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408498.1:c.1463T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408499.1:c.1463T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408500.1:c.1463T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408501.1:c.1463T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408502.1:c.1460T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408503.1:c.1460T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408504.1:c.1460T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408505.1:c.1457T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408506.1:c.1400T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408507.1:c.1397T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408508.1:c.1388T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408509.1:c.1385T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408510.1:c.1346T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408511.1:c.1343T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408512.1:c.1223T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408513.1:c.1196T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.5036T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.4895T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.1724T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.1724T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.5099T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.1724T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.5213T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Functional consequence:
functionally_normal [Sequence Ontology: SO:0002219] - Comment(s)

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002774466Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Uncertain significance
(May 23, 2023) 		unknownclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Germline variants in hereditary breast cancer genes are associated with early age at diagnosis and family history in Guatemalan breast cancer.

Ren M, Orozco A, Shao K, Albanez A, Ortiz J, Cao B, Wang L, Barreda L, Alvarez CS, Garland L, Wu D, Chung CC, Wang J, Frone M, Ralon S, Argueta V, Orozco R, Gharzouzi E, Dean M.

Breast Cancer Res Treat. 2021 Sep;189(2):533-539. doi: 10.1007/s10549-021-06305-5. Epub 2021 Jul 1. Erratum in: Breast Cancer Res Treat. 2022 Jan;191(1):227. doi: 10.1007/s10549-021-06373-7.

PubMed [citation]
PMID:
34196900
PMCID:
PMC8357728

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
See all PubMed Citations (4)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV002774466.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

In the published literature, this variant has been reported in an individual with breast cancer (PMID: 34196900 (2021)) and characterized as likely benign in a multifactorial likelihood study (PMID: 31131967 (2019)). Additionally, a functional assay showed that this variant does not impact protein function (PMID: 30209399 (2018)). The frequency of this variant in the general population, 0.000004 (1/251382 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded conflicting predictions that this variant is benign or damaging. Based on the available information, we are unable to determine the clinical significance of this variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 16, 2024