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BRAF (p.I592M)

Variant Data

Location

  • HGVS: ENST00000288602:c.1776A>G
  • Reference Version: GRCh37
  • Chromosome: 7
  • Start: 140453159
  • Stop: 140453159
  • Strand: -1
  • Transcript: ENST00000288602 (ensembl - 74_37)
  • Gene: BRAF ( View drug interactions on DGIdb )

Information

  • Reference: T
  • Variant: C
  • Amino Acid: p.I592M
  • Mutation Type: missense
  • Variant Type: SNV (SO:0001483)
  • cDNA Change: c.1776
  • 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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