Variant (rsID / SNP)
rs751527253
rs751527253 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NPHP3. Location: chromosome 3, position 132,408,108. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
NPHP3Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- Deletion
- Chromosome / position
- 3:132408108
- Cytoband
- 3q22.1
- HGVS
- NM_153240.5(NPHP3):c.2694-2_2694-1del
Associated conditions / phenotypes
NPHP3-related Meckel-like syndrome|Renal-hepatic-pancreatic dysplasia 1|Nephronophthisis|Polycystic kidney disease|Nephronophthisis 3
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.