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RAF1 (p.S257L)

Variant Data

Location

  • HGVS: ENST00000251849:c.770C>T
  • Reference Version: GRCh37
  • Chromosome: 3
  • Start: 12645699
  • Stop: 12645699
  • Strand: -1
  • Transcript: ENST00000251849 (ensembl - 74_37)
  • Gene: RAF1 ( View drug interactions on DGIdb )

Information

Disease Data

Disease Source Batch Tags External Links
colorectal cancer Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
lung adenocarcinoma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
gastric adenocarcinoma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
skin melanoma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
Noonan syndrome Razzaque et al., 2007, Nat. Genet. Kin-Driver (View variants) activatinglikely pathogenic
Noonan syndrome Partridge, Nurs Stand Kin-Driver (View variants) activatinglikely pathogenic
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