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JAK1 (p.V658F)

Variant Data

Location

  • HGVS: ENST00000342505:c.1972G>T
  • Reference Version: GRCh37
  • Chromosome: 1
  • Start: 65312347
  • Stop: 65312347
  • Strand: -1
  • Transcript: ENST00000342505 (ensembl - 74_37)
  • Gene: JAK1 ( View drug interactions on DGIdb )

Information

Disease Data

Disease Source Batch Tags External Links
polycythemia vera Staerk et al., 2005, J. Biol. Chem. Literature (View variants) likely pathogenic
acute myeloid leukemia Wartman et al., 2011, J. Clin. Invest. Literature (View variants) likely pathogenic
acute myeloid leukemia Zhang et al., 2011, Blood Literature (View variants) likely pathogenic
acute lymphocytic leukemia Hornakova et al., 2009, J. Biol. Chem. Literature (View variants) likely pathogenic
acute lymphocytic leukemia Mullighan et al., 2009, Proc. Natl. Acad. Sci. U.S.A. Literature (View variants) likely pathogenic
acute lymphocytic leukemia Mullighan et al., 2009, Nat. Genet. Literature (View variants) likely pathogenic
acute lymphocytic leukemia Zhang et al., 2011, Blood Literature (View variants) likely pathogenic
acute leukemia Hornakova et al., 2009, J. Biol. Chem. Kin-Driver (View variants) activatinglikely pathogenic
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