MTOR (p.C1483F)

Variant Data

Location

  • HGVS: ENST00000361445:c.4448G>T
  • Reference Version: GRCh37
  • Chromosome: 1
  • Start: 11217230
  • Stop: 11217230
  • Strand: -1
  • Transcript: ENST00000361445 (ensembl - 74_37)
  • Gene: MTOR ( View drug interactions on DGIdb )

Information

  • Reference: C
  • Variant: A
  • Amino Acid: p.C1483F
  • Mutation Type: missense
  • Variant Type: SNV (SO:0001483)
  • cDNA Change: c.4448
  • Tags: likely pathogenic