Variant (rsID / SNP)
rs745834191
rs745834191 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PEPD. Location: chromosome 19, position 33,904,527. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
PEPDPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- Deletion
- Chromosome / position
- 19:33904527
- Cytoband
- 19q13.11
- HGVS
- NM_000285.4(PEPD):c.692_694del (p.Tyr231del)
Associated conditions / phenotypes
Prolidase deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.