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CSF3R (p.T618I)

Variant Data

Location

  • HGVS: ENST00000373103:c.1853C>T
  • Reference Version: GRCh37
  • Chromosome: 1
  • Start: 36933434
  • Stop: 36933434
  • Strand: -1
  • Transcript: ENST00000373103 (ensembl - 74_37)
  • Gene: CSF3R ( View drug interactions on DGIdb )

Information

  • Reference: G
  • Variant: A
  • Amino Acid: p.T618I
  • Mutation Type: missense
  • Variant Type: SNV (SO:0001483)
  • cDNA Change: c.1853
  • Tags: likely pathogenic

Disease Data

Disease Source Batch Tags External Links
acute myeloid leukemia 2013, N. Engl. J. Med. WashU hematologic malignancy mutation list (View variants) likely pathogenic
chronic myeloid leukemia Maxson et al., 2013, N. Engl. J. Med. Drug Gene Knowledge Database (View variants) likely pathogenic

Drug Interaction Data

Therapeutic Context Pathway Effect Association Status Evidence Source
ruxolitinib activation gain-of-function case report emerging 23656643
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