Variant: rs142021049

present in Gene: NPHP3;NPHP3-ACAD11 present in Chromosome: 3 Position on Chromosome: 132708219 Alleles of this Variant: T/C

rs142021049 in NPHP3;NPHP3-ACAD11 gene and NEPHRONOPHTHISIS 3 PMID 12872122 2003 Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.