CREBBP (p.R1446L)

Variant Data

Location

  • HGVS: ENST00000262367:c.4337G>T
  • Reference Version: GRCh37
  • Chromosome: 16
  • Start: 3788617
  • Stop: 3788617
  • Strand: -1
  • Transcript: ENST00000262367 (ensembl - 74_37)
  • Gene: CREBBP ( View drug interactions on DGIdb )

Information

  • Reference: C
  • Variant: A
  • Amino Acid: p.R1446L
  • Mutation Type: missense
  • Variant Type: SNV (SO:0001483)
  • cDNA Change: c.4337
  • Tags: likely pathogenic