EZH2 (p.Y646S)

Variant Data

Location

  • HGVS: ENST00000320356:c.1937A>C
  • Reference Version: GRCh37
  • Chromosome: 7
  • Start: 148508727
  • Stop: 148508727
  • Strand: -1
  • Transcript: ENST00000320356 (ensembl - 74_37)
  • Gene: EZH2 ( View drug interactions on DGIdb )

Information

  • Reference: T
  • Variant: G
  • Amino Acid: p.Y646S
  • Mutation Type: missense
  • Variant Type: SNV (SO:0001483)
  • cDNA Change: c.1937
  • Tags: likely pathogenic

Drug Interaction Data

Therapeutic Context Pathway Effect Association Status Evidence Source
EZH2 inhibitor activation gain-of-function preclinical emerging 23023262