EGFR (p.A750P)

Variant Data

Location

  • HGVS: ENST00000275493:c.2248G>C
  • Reference Version: GRCh37
  • Chromosome: 7
  • Start: 55242478
  • Stop: 55242478
  • Strand: 1
  • Transcript: ENST00000275493 (ensembl - 74_37)
  • Gene: EGFR ( View drug interactions on DGIdb )

Information

  • Reference: G
  • Variant: C
  • Amino Acid: p.A750P
  • Mutation Type: missense
  • Variant Type: SNV (SO:0001483)
  • cDNA Change: c.2248
  • Tags: likely pathogenic