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ACVR1 (p.G328E)

Variant Data

Location

  • HGVS: ENST00000263640:c.983G>A
  • Reference Version: GRCh37
  • Chromosome: 2
  • Start: 158622516
  • Stop: 158622516
  • Strand: -1
  • Transcript: ENST00000263640 (ensembl - 74_37)
  • Gene: ACVR1 ( View drug interactions on DGIdb )

Information

  • Reference: C
  • Variant: T
  • Amino Acid: p.G328E
  • Mutation Type: missense
  • Variant Type: SNV (SO:0001483)
  • cDNA Change: c.983
  • Tags: likely pathogenic

Disease Data

Disease Source Batch Tags External Links
brain stem glioma Chang et al., 2016, Nat. Biotechnol. Pan-cancer recurrent hotspots (View variants) likely pathogenic
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