CDK4 (p.R24L)

Variant Data

Location

  • HGVS: ENST00000312990:c.71G>T
  • Reference Version: GRCh37
  • Chromosome: 12
  • Start: 58145430
  • Stop: 58145430
  • Strand: -1
  • Transcript: ENST00000312990 (ensembl - 74_37)
  • Gene: CDK4 ( View drug interactions on DGIdb )

Information

  • Reference: C
  • Variant: A
  • Amino Acid: p.R24L
  • Mutation Type: missense
  • Variant Type: SNV (SO:0001483)
  • cDNA Change: c.71
  • Tags: likely pathogenic