POLE (p.P286H)

Variant Data

Location

  • HGVS: ENST00000320574:c.857C>A
  • Reference Version: GRCh37
  • Chromosome: 12
  • Start: 133253184
  • Stop: 133253184
  • Strand: -1
  • Transcript: ENST00000320574 (ensembl - 74_37)
  • Gene: POLE ( View drug interactions on DGIdb )

Information

  • Reference: G
  • Variant: T
  • Amino Acid: p.P286H
  • Mutation Type: missense
  • Variant Type: SNV (SO:0001483)
  • cDNA Change: c.857
  • Tags: likely pathogenic