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SF3B1 (p.R625C)

Variant Data

Location

  • HGVS: ENST00000335508:c.1873C>T
  • Reference Version: GRCh37
  • Chromosome: 2
  • Start: 198267484
  • Stop: 198267484
  • Strand: -1
  • Transcript: ENST00000335508 (ensembl - 74_37)
  • Gene: SF3B1 ( View drug interactions on DGIdb )

Information

  • Reference: G
  • Variant: A
  • Amino Acid: p.R625C
  • Mutation Type: missense
  • Variant Type: SNV (SO:0001483)
  • cDNA Change: c.1873
  • 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
chronic lymphocytic leukemia Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
salivary gland adenoid cystic carcinoma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
urinary bladder urothelial carcinoma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
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