EGFR (p.W731*)

Variant Data

Location

  • HGVS: ENST00000275493:c.2193G>A
  • Reference Version: GRCh37
  • Chromosome: 7
  • Start: 55242423
  • Stop: 55242423
  • Strand: 1
  • Transcript: ENST00000275493 (ensembl - 74_37)
  • Gene: EGFR ( View drug interactions on DGIdb )

Information

  • Reference: G
  • Variant: A
  • Amino Acid: p.W731*
  • Mutation Type: stop_lost
  • Variant Type: SNV (SO:0001483)
  • cDNA Change: c.2193
  • Tags: likely pathogenic

Disease Data

Disease Source Batch Tags External Links
non-small cell lung carcinoma MacConaill et al., 2014, J Mol Diagn Oncomap Variants (View variants) likely pathogenic