Variant: rs751527253 

    present in Gene: NPHP3-ACAD11;NPHP3
    present in Chromosome: 3
    Position on Chromosome: 132689264
    Alleles of this Variant: CT/-

rs751527253 in NPHP3-ACAD11;NPHP3 gene and Nephronophthisis PMID 18371931 2008 Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia.

PMID 26673778 2016 Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies.

PMID 23559409 2013 Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.

PMID 20007846 2010 Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping.

rs751527253 in NPHP3-ACAD11;NPHP3 gene and RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 PMID 18371931 2008 Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia.

PMID 20007846 2010 Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping.

PMID 27894351 2016 Characterizing the morbid genome of ciliopathies.

rs751527253 in NPHP3-ACAD11;NPHP3 gene and Situs Inversus PMID 18371931 2008 Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia.

PMID 20007846 2010 Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping.

PMID 27894351 2016 Characterizing the morbid genome of ciliopathies.