ABL1 (p.F378L)

Variant Data

Location

  • HGVS: ENST00000372348:c.1132T>C
  • Reference Version: GRCh37
  • Chromosome: 9
  • Start: 133748414
  • Stop: 133748414
  • Strand: 1
  • Transcript: ENST00000372348 (ensembl - 74_37)
  • Gene: ABL1 ( View drug interactions on DGIdb )

Information

  • Reference: T
  • Variant: C
  • Amino Acid: p.F378L
  • Mutation Type: missense
  • Variant Type: SNV (SO:0001483)
  • cDNA Change: c.1132
  • Tags: likely pathogenic

Disease Data

Disease Source Batch Tags External Links
chronic myeloid leukemia Soverini et al., 2011, Blood Drug Gene Knowledge Database (View variants) likely pathogenic

Drug Interaction Data

Therapeutic Context Pathway Effect Association Status Evidence Source
dasatinib, bosutinib, ponatinib activation gain-of-function NCCN guidelines consensus 21562040