Variant (rsID / SNP)
rs119469014
rs119469014 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MPO. Location: chromosome 17, position 56,350,901. Clinical significance in the table: Pathogenic.
Reference-table entries
MPOPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:56350901
- Cytoband
- 17q22
- HGVS
- NM_000250.2(MPO):c.1495C>T (p.Arg499Cys)
- Allele change
- Missense_R499C
Associated conditions / phenotypes
Myeloperoxidase deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.