Variant: rs139022622 

    present in Gene: NPHP4
    present in Chromosome: 1
    Position on Chromosome: 5866443
    Alleles of this Variant: G/A

rs139022622 in NPHP4 gene and NEPHRONOPHTHISIS 4 PMID 12244321 2002 The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin.

PMID 12205563 2002 A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution.

PMID 16339905 2005 Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations.

PMID 17558407 2007 Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.

PMID 15776426 2005 Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis.

PMID 22550138 2012 NPHP4 variants are associated with pleiotropic heart malformations.