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CDKN2A (p.P114L)

Variant Data

Location

  • HGVS: ENST00000304494:c.341C>T
  • Reference Version: GRCh37
  • Chromosome: 9
  • Start: 21971017
  • Stop: 21971017
  • Strand: -1
  • Transcript: ENST00000304494 (ensembl - 74_37)
  • Gene: CDKN2A ( View drug interactions on DGIdb )

Information

  • Reference: G
  • Variant: A
  • Amino Acid: p.P114L
  • Mutation Type: missense
  • Variant Type: SNV (SO:0001483)
  • cDNA Change: c.341
  • Tags: likely pathogenic

Disease Data

Disease Source Batch Tags External Links
skin melanoma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
head and neck squamous cell carcinoma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
lung squamous cell carcinoma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
skin squamous cell carcinoma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
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