Variant (rsID / SNP)
rs558637226
rs558637226 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NPHP3. Location: chromosome 3, position 132,415,592. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
NPHP3Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:132415592
- Cytoband
- 3q22.1
- HGVS
- NM_153240.5(NPHP3):c.2154C>T (p.Phe718=)
- Allele change
- Silent
Associated conditions / phenotypes
Nephronophthisis|Nephronophthisis 3
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.