MAP2K1 (p.F53V)

Variant Data

Location

  • HGVS: ENST00000307102:c.157T>G
  • Reference Version: GRCh37
  • Chromosome: 15
  • Start: 66727441
  • Stop: 66727441
  • Strand: 1
  • Transcript: ENST00000307102 (ensembl - 74_37)
  • Gene: MAP2K1 ( View drug interactions on DGIdb )

Information

  • Reference: T
  • Variant: G
  • Amino Acid: p.F53V
  • Mutation Type: missense
  • Variant Type: SNV (SO:0001483)
  • cDNA Change: c.157
  • Tags: likely pathogenic