Variant (rsID / SNP)
rs536522394
rs536522394 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MPO. Location: chromosome 17, position 56,350,828. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
MPOPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- Deletion
- Chromosome / position
- 17:56350828
- Cytoband
- 17q22
- HGVS
- NM_000250.2(MPO):c.1555_1568del (p.Met519fs)
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.