Gene entry
NPHP1
nephrocystin 1
- Chromosome
- 2
- Cytoband
- 2q13
- Variants (rsID)
- 21
NPHP1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2q13). Its official name is “nephrocystin 1”. The reference table lists 21 variants (rsID) for this gene.
Clinically classified variants
7 reference-table entries with clinical significance.
- rs112090979Benignsingle nucleotide variantNephronophthisis
- rs13414551Benignsingle nucleotide variantNephronophthisis
- rs143174377Benignsingle nucleotide variantSenior-Loken syndrome 1|Joubert syndrome with renal defect|Nephronophthisis|Nephronophthisis 1
- rs186950965Benignsingle nucleotide variantNephronophthisis
- rs33958626Benignsingle nucleotide variantNephronophthisis|Senior-Loken syndrome 1|Joubert syndrome with renal defect|Nephronophthisis 1
- rs144850331Conflicting interpretationssingle nucleotide variantNephronophthisis
- rs121907899Pathogenicsingle nucleotide variantNephronophthisis 1|Nephronophthisis|NPHP1-Related Disorders
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.