STK19 (p.D89N)

Variant Data

Location

  • HGVS: ENST00000375331:c.265G>A
  • Reference Version: GRCh37
  • Chromosome: 6
  • Start: 31940123
  • Stop: 31940123
  • Strand: 1
  • Transcript: ENST00000375331 (ensembl - 74_37)
  • Gene: STK19 ( View drug interactions on DGIdb )

Information

  • Reference: G
  • Variant: A
  • Amino Acid: p.D89N
  • Mutation Type: missense
  • Variant Type: SNV (SO:0001483)
  • cDNA Change: c.265
  • Tags: likely pathogenic