B2M (p.M1I)

Variant Data

Location

  • HGVS: ENST00000558401:c.3G>A
  • Reference Version: GRCh37
  • Chromosome: 15
  • Start: 45003747
  • Stop: 45003747
  • Strand: 1
  • Transcript: ENST00000558401 (ensembl - 74_37)
  • Gene: B2M ( View drug interactions on DGIdb )

Information

  • Reference: G
  • Variant: A
  • Amino Acid: p.M1I
  • Mutation Type: start_lost
  • Variant Type: SNV (SO:0001483)
  • cDNA Change: c.3
  • Tags: likely pathogenic