U2AF1 (p.Q157R)

Variant Data

Location

  • HGVS: ENST00000291552:c.470A>G
  • Reference Version: GRCh37
  • Chromosome: 21
  • Start: 44514777
  • Stop: 44514777
  • Strand: -1
  • Transcript: ENST00000291552 (ensembl - 74_37)
  • Gene: U2AF1 ( View drug interactions on DGIdb )

Information

  • Reference: T
  • Variant: C
  • Amino Acid: p.Q157R
  • Mutation Type: missense
  • Variant Type: SNV (SO:0001483)
  • cDNA Change: c.470
  • Tags: likely pathogenic

Disease Data

Disease Source Batch Tags External Links
acute myeloid leukemia Graubert et al., 2012, Nat. Genet. WashU hematologic malignancy mutation list (View variants) likely pathogenic