Variant (rsID / SNP)
rs61739637
rs61739637 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NPHP4. Location: chromosome 1, position 5,924,543. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
NPHP4Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:5924543
- Cytoband
- 1p36.31
- HGVS
- NM_015102.5(NPHP4):c.3851G>A (p.Arg1284His)
- Allele change
- Silent
Associated conditions / phenotypes
Nephronophthisis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.