Variant: rs771742823

present in Gene: NPHP3-AS1;NPHP3;NPHP3-ACAD11 present in Chromosome: 3 Position on Chromosome: 132719800 Alleles of this Variant: G/A

rs771742823 in NPHP3-AS1;NPHP3;NPHP3-ACAD11 gene and NEPHRONOPHTHISIS 3 PMID 28921755 2017 Homozygous mutation in the NPHP3 gene causing foetal nephronophthisis.