PTPN11 (p.E76A)

Variant Data

Location

  • HGVS: ENST00000351677:c.227A>C
  • Reference Version: GRCh37
  • Chromosome: 12
  • Start: 112888211
  • Stop: 112888211
  • Strand: 1
  • Transcript: ENST00000351677 (ensembl - 74_37)
  • Gene: PTPN11 ( View drug interactions on DGIdb )

Information

  • Reference: A
  • Variant: C
  • Amino Acid: p.E76A
  • Mutation Type: missense
  • Variant Type: SNV (SO:0001483)
  • cDNA Change: c.227
  • Tags: likely pathogenic