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GNAS (p.R202C)

Variant Data

Location

  • HGVS: ENST00000354359:c.604C>T
  • Reference Version: GRCh37
  • Chromosome: 20
  • Start: 57484420
  • Stop: 57484420
  • Strand: 1
  • Transcript: ENST00000354359 (ensembl - 74_37)
  • Gene: GNAS ( View drug interactions on DGIdb )

Information

  • Reference: C
  • Variant: T
  • Amino Acid: p.R202C
  • Mutation Type: missense
  • Variant Type: SNV (SO:0001483)
  • cDNA Change: c.604
  • Tags: likely pathogenic

Disease Data

Disease Source Batch Tags External Links
cancer Nault et al., 2012, J. Hepatol. Drug Gene Knowledge Database (View variants) likely pathogenic
cancer MacConaill et al., 2014, J Mol Diagn Oncomap Variants (View variants) likely pathogenic

Drug Interaction Data

Therapeutic Context Pathway Effect Association Status Evidence Source
JAK inhibitors activation gain-of-function preclinical emerging 21835143
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