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FLT3 (p.N676D)

Variant Data

Location

  • HGVS: ENST00000380982:c.2026A>G
  • Reference Version: GRCh37
  • Chromosome: 13
  • Start: 28602342
  • Stop: 28602342
  • Strand: -1
  • Transcript: ENST00000380982 (ensembl - 74_37)
  • Gene: FLT3 ( View drug interactions on DGIdb )

Information

  • Reference: T
  • Variant: C
  • Amino Acid: p.N676D
  • Mutation Type: missense
  • Variant Type: SNV (SO:0001483)
  • cDNA Change: c.2026
  • Tags: likely pathogenic

Disease Data

Disease Source Batch Tags External Links
acute myeloid leukemia Smith et al., 2012, Nature Drug Gene Knowledge Database (View variants) likely pathogenic
acute myeloid leukemia Smith et al., 2013, Blood Drug Gene Knowledge Database (View variants) likely pathogenic
acute myeloid leukemia Zhang et al., 2014, Clin. Cancer Res. Drug Gene Knowledge Database (View variants) likely pathogenic

Drug Interaction Data

Therapeutic Context Pathway Effect Association Status Evidence Source
quizartinib activation gain-of-function preclinical emerging 22504184
ponatinib activation gain-of-function preclinical emerging 23430109
crenolanib, PKC412 activation gain-of-function preclinical emerging 24619500
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