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BRAF (p.D594V)

Variant Data

Location

  • HGVS: ENST00000288602:c.1781A>T
  • Reference Version: GRCh37
  • Chromosome: 7
  • Start: 140453154
  • Stop: 140453154
  • Strand: -1
  • Transcript: ENST00000288602 (ensembl - 74_37)
  • Gene: BRAF ( View drug interactions on DGIdb )

Information

Disease Data

Disease Source Batch Tags External Links
colorectal cancer Davies et al., 2002, Nature My Cancer Genome (View variants) pathogenic My Cancer Genome
melanoma Davies et al., 2002, Nature My Cancer Genome (View variants) pathogenic My Cancer Genome
colorectal cancer Yuen et al., 2002, Cancer Res. My Cancer Genome (View variants) pathogenic My Cancer Genome
colorectal cancer Ikenoue et al., 2003, Cancer Res. My Cancer Genome (View variants) pathogenic My Cancer Genome
melanoma Maldonado et al., 2003, J. Natl. Cancer Inst. My Cancer Genome (View variants) pathogenic My Cancer Genome
colorectal cancer Wan et al., 2004, Cell My Cancer Genome (View variants) pathogenic My Cancer Genome
colorectal cancer De Roock et al., 2009, Mol Diagn Ther My Cancer Genome (View variants) pathogenic My Cancer Genome
colorectal cancer Tejpar et al., 2010, Oncologist My Cancer Genome (View variants) pathogenic My Cancer Genome
colorectal cancer Rizzo et al., 2010, Cancer Treat. Rev. My Cancer Genome (View variants) pathogenic My Cancer Genome
colorectal cancer Bardelli et al., 2012, Nat. Med. My Cancer Genome (View variants) pathogenic My Cancer Genome
melanoma MacConaill et al., 2014, J Mol Diagn Oncomap Variants (View variants) likely pathogenic
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