Header logo

MYD88 (p.L273P)

Variant Data

Location

  • HGVS: ENST00000417037:c.818T>C
  • Reference Version: GRCh37
  • Chromosome: 3
  • Start: 38182641
  • Stop: 38182641
  • Strand: 1
  • Transcript: ENST00000417037 (ensembl - 74_37)
  • Gene: MYD88 ( View drug interactions on DGIdb )

Information

  • Reference: T
  • Variant: C
  • Amino Acid: p.L273P
  • Mutation Type: missense
  • Variant Type: SNV (SO:0001483)
  • cDNA Change: c.818
  • Tags: likely pathogenic

Disease Data

Disease Source Batch Tags External Links
lymphoma Ngo et al., 2011, Nature Drug Gene Knowledge Database (View variants) likely pathogenic
chronic lymphocytic leukemia Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
non-Hodgkin lymphoma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
multiple myeloma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic

Drug Interaction Data

Therapeutic Context Pathway Effect Association Status Evidence Source
JAK inhibitors activation gain-of-function preclinical emerging 21179087
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.