Variant: rs144624477 

    present in Gene: NPHP4
    present in Chromosome: 1
    Position on Chromosome: 5865244
    Alleles of this Variant: G/A

rs144624477 in NPHP4 gene and SENIOR-LOKEN SYNDROME 4 PMID 21546380 2011 Assessing the pathogenic potential of human Nephronophthisis disease-associated NPHP-4 missense mutations in C. elegans.

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

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

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