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IDH2 (p.R172G)

Variant Data

Location

  • HGVS: ENST00000330062:c.514A>G
  • Reference Version: GRCh37
  • Chromosome: 15
  • Start: 90631839
  • Stop: 90631839
  • Strand: -1
  • Transcript: ENST00000330062 (ensembl - 74_37)
  • Gene: IDH2 ( View drug interactions on DGIdb )

Information

  • Reference: T
  • Variant: C
  • Amino Acid: p.R172G
  • Mutation Type: missense
  • Variant Type: SNV (SO:0001483)
  • cDNA Change: c.514
  • Tags: likely pathogenic

Disease Data

Disease Source Batch Tags External Links
brain glioma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
acute myeloid leukemia Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
hepatocellular carcinoma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
brain stem glioma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
colorectal cancer Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
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