Gene entry
NPHP3
nephrocystin 3
- Chromosome
- 3
- Cytoband
- 3q22.1
- Variants (rsID)
- 35
NPHP3 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 3 (region 3q22.1). Its official name is “nephrocystin 3”. The reference table lists 35 variants (rsID) for this gene.
Clinically classified variants
26 reference-table entries with clinical significance.
- rs111727307Benignsingle nucleotide variantNephronophthisis
- rs112300370Benignsingle nucleotide variantNephronophthisis
- rs112386774Benignsingle nucleotide variantNephronophthisis
- rs112749193Benignsingle nucleotide variantNephronophthisis
- rs113364886Benignsingle nucleotide variantNephronophthisis
- rs142663818Benignsingle nucleotide variantNephronophthisis|Renal-hepatic-pancreatic dysplasia 1|NPHP3-related Meckel-like syndrome|Nephronophthisis 3
- rs16839515Benignsingle nucleotide variantNephronophthisis|NPHP3-related Meckel-like syndrome|Renal-hepatic-pancreatic dysplasia 1|Nephronophthisis 3
- rs192633696Benignsingle nucleotide variantNephronophthisis|Renal-hepatic-pancreatic dysplasia 1|NPHP3-related Meckel-like syndrome|Nephronophthisis 3
- rs6794496Benignsingle nucleotide variantNephronophthisis|Renal-hepatic-pancreatic dysplasia 1|NPHP3-related Meckel-like syndrome|Nephronophthisis 3
- rs116174472Conflicting interpretationssingle nucleotide variantNPHP3-related Meckel-like syndrome|Nephronophthisis|Renal-hepatic-pancreatic dysplasia 1|Nephronophthisis 3
- rs139730838Conflicting interpretationssingle nucleotide variantNephronophthisis|NPHP3-related Meckel-like syndrome|Renal-hepatic-pancreatic dysplasia 1|Nephronophthisis 3
- rs141410951Conflicting interpretationssingle nucleotide variantRenal-hepatic-pancreatic dysplasia 1|Nephronophthisis|NPHP3-related Meckel-like syndrome|Nephronophthisis 3
- rs141477666Conflicting interpretationssingle nucleotide variantNephronophthisis|NPHP3-related Meckel-like syndrome|Renal-hepatic-pancreatic dysplasia 1|Nephronophthisis 3
- rs142021049Conflicting interpretationssingle nucleotide variantNephronophthisis|Nephronophthisis 3|NPHP3-related Meckel-like syndrome|Renal-hepatic-pancreatic dysplasia 1|See cases
- rs143451766Conflicting interpretationssingle nucleotide variantNephronophthisis|Renal-hepatic-pancreatic dysplasia 1|Nephronophthisis 3|NPHP3-related Meckel-like syndrome
- rs150489788Conflicting interpretationssingle nucleotide variantNephronophthisis
- rs202228115Conflicting interpretationssingle nucleotide variantRenal-hepatic-pancreatic dysplasia 1|Nephronophthisis 3|NPHP3-related Meckel-like syndrome|Nephronophthisis
- rs34391943Conflicting interpretationssingle nucleotide variantNephronophthisis|Renal-hepatic-pancreatic dysplasia 1|NPHP3-related Meckel-like syndrome|Nephronophthisis 3
- rs558637226Conflicting interpretationssingle nucleotide variantNephronophthisis|Nephronophthisis 3
- rs750280281Conflicting interpretationssingle nucleotide variantNephronophthisis|Renal-hepatic-pancreatic dysplasia 1|NPHP3-related Meckel-like syndrome|Nephronophthisis 3
- rs119456962Pathogenicsingle nucleotide variantNPHP3-related Meckel-like syndrome|Nephronophthisis
- rs119456963Pathogenicsingle nucleotide variantRenal-hepatic-pancreatic dysplasia 1
- rs182135982Pathogenicsingle nucleotide variantNephronophthisis|Renal-hepatic-pancreatic dysplasia 1|NPHP3-related Meckel-like syndrome|Nephronophthisis 3
- rs368138001Pathogenicsingle nucleotide variantNephronophthisis
- rs751527253PathogenicDeletionNPHP3-related Meckel-like syndrome|Renal-hepatic-pancreatic dysplasia 1|Nephronophthisis|Polycystic kidney disease|Nephronophthisis 3
- rs144731534Uncertain significancesingle nucleotide variantRenal-hepatic-pancreatic dysplasia 1|Nephronophthisis|Meckel-Gruber syndrome
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.