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GNAS (p.R844C)

Variant Data

Location

  • HGVS: ENST00000371100:c.2530C>T
  • Reference Version: GRCh37
  • Chromosome: 20
  • Start: 57484420
  • Stop: 57484420
  • Strand: 1
  • Transcript: ENST00000371100 (ensembl - 74_37)
  • Gene: GNAS ( View drug interactions on DGIdb )

Information

  • Reference: C
  • Variant: T
  • Amino Acid: p.R844C
  • Mutation Type: missense
  • Variant Type: SNV (SO:0001483)
  • cDNA Change: c.2530
  • Tags: likely pathogenic

Disease Data

Disease Source Batch Tags External Links
pancreas adenocarcinoma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
colorectal cancer 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
lung adenocarcinoma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
hepatocellular carcinoma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
breast cancer 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
head and neck squamous cell carcinoma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
cervix carcinoma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
adrenocortical carcinoma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
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