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CDKN2A (p.R139L)

Variant Data

Location

  • HGVS: ENST00000361570:c.416G>T
  • Reference Version: GRCh37
  • Chromosome: 9
  • Start: 21971108
  • Stop: 21971108
  • Strand: -1
  • Transcript: ENST00000361570 (ensembl - 74_37)
  • Gene: CDKN2A ( View drug interactions on DGIdb )

Information

  • Reference: C
  • Variant: A
  • Amino Acid: p.R139L
  • Mutation Type: missense
  • Variant Type: SNV (SO:0001483)
  • cDNA Change: c.416
  • Tags: likely pathogenic

Disease Data

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