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VHL (p.L89H)

Variant Data

Location

  • HGVS: ENST00000256474:c.266T>A
  • Reference Version: GRCh37
  • Chromosome: 3
  • Start: 10183797
  • Stop: 10183797
  • Strand: 1
  • Transcript: ENST00000256474 (ensembl - 74_37)
  • Gene: VHL ( View drug interactions on DGIdb )

Information

  • Reference: T
  • Variant: A
  • Amino Acid: p.L89H
  • Mutation Type: missense
  • Variant Type: SNV (SO:0001483)
  • cDNA Change: c.266
  • Tags: likely pathogenic

Disease Data

Disease Source Batch Tags External Links
renal clear cell carcinoma Kondo et al., 2002, Genes Chromosomes Cancer Literature (View variants) likely pathogenic
renal clear cell carcinoma MacConaill et al., 2014, J Mol Diagn Oncomap Variants (View variants) likely pathogenic
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