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FGFR2 (p.S252W)

Variant Data

Location

  • HGVS: ENST00000457416:c.755C>G
  • Reference Version: GRCh37
  • Chromosome: 10
  • Start: 123279677
  • Stop: 123279677
  • Strand: -1
  • Transcript: ENST00000457416 (ensembl - 74_37)
  • Gene: FGFR2 ( View drug interactions on DGIdb )

Information

  • Reference: G
  • Variant: C
  • Amino Acid: p.S252W
  • Mutation Type: missense
  • Variant Type: SNV (SO:0001483)
  • cDNA Change: c.755
  • Tags: likely pathogenic

Disease Data

Disease Source Batch Tags External Links
endometrial carcinoma Greulich et al., 2011, Trends Mol Med Literature (View variants) likely pathogenic
endometrial adenocarcinoma Dutt et al., 2008, Proc. Natl. Acad. Sci. U.S.A. Drug Gene Knowledge Database (View variants) likely pathogenic
endometrial adenocarcinoma Gozgit et al., 2012, Mol. Cancer Ther. Drug Gene Knowledge Database (View variants) likely pathogenic
endometrial adenocarcinoma Guagnano et al., 2012, Cancer Discov Drug Gene Knowledge Database (View variants) likely pathogenic
endometrial carcinoma MacConaill et al., 2014, J Mol Diagn Oncomap Variants (View variants) likely pathogenic

Drug Interaction Data

Therapeutic Context Pathway Effect Association Status Evidence Source
preclinical sensitivity gain-of-function emerging 18552176, 22238366, 23002168 nan
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