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CTNNB1 (p.V22A)

Variant Data

Location

  • HGVS: ENST00000349496:c.65T>C
  • Reference Version: GRCh37
  • Chromosome: 3
  • Start: 41266068
  • Stop: 41266068
  • Strand: 1
  • Transcript: ENST00000349496 (ensembl - 74_37)
  • Gene: CTNNB1 ( View drug interactions on DGIdb )

Information

  • Reference: T
  • Variant: C
  • Amino Acid: p.V22A
  • Mutation Type: missense
  • Variant Type: SNV (SO:0001483)
  • cDNA Change: c.65
  • Tags: likely pathogenic

Disease Data

Disease Source Batch Tags External Links
melanoma MacConaill et al., 2014, J Mol Diagn Oncomap Variants (View variants) likely pathogenic
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