Header logo

PTPN11 (p.E76K)

Variant Data

Location

  • HGVS: ENST00000351677:c.226G>A
  • Reference Version: GRCh37
  • Chromosome: 12
  • Start: 112888210
  • Stop: 112888210
  • Strand: 1
  • Transcript: ENST00000351677 (ensembl - 74_37)
  • Gene: PTPN11 ( View drug interactions on DGIdb )

Information

  • Reference: G
  • Variant: A
  • Amino Acid: p.E76K
  • Mutation Type: missense
  • Variant Type: SNV (SO:0001483)
  • cDNA Change: c.226
  • Tags: likely pathogenic

Disease Data

Disease Source Batch Tags External Links
multiple myeloma 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
pilocytic astrocytoma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
neuroblastoma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
lung squamous cell carcinoma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
Produced by The McDonnell Genome Institute at the Washington University School of Medicine

DoCM by The McDonnell Genome Institute at Washington University School of Medicine is licensed under a Creative Commons Attribution 4.0 International License. Questions? Comments? Concerns? You can contact us here.