Variant: rs369925690 

    present in Gene: PKHD1
    present in Chromosome: 6
    Position on Chromosome: 52071009
    Alleles of this Variant: T/C;G

rs369925690 in PKHD1 gene and Autosomal Recessive Polycystic Kidney Disease PMID 19940839 2010 Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease.

PMID 12925574 2003 Cellular and subcellular localization of the ARPKD protein; fibrocystin is expressed on primary cilia.

PMID 26695994 2015 Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease.

PMID 15698423 2005 Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD).

PMID 12506140 2003 Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).

PMID 25701400 2015 A labor and cost effective next generation sequencing of PKHD1 in autosomal recessive polycystic kidney disease patients.

PMID 11898128 2002 PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats.

PMID 15805161 2005 Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts.

PMID 25015577 2014 Consensus expert recommendations for the diagnosis and management of autosomal recessive polycystic kidney disease: report of an international conference.

PMID 23582048 2013 Combined liver-kidney transplantation for children with autosomal recessive polycystic kidney disease (ARPKD): indication and outcome.

PMID 19914852 2010 PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.

PMID 20413436 2010 Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease.

PMID 11919560 2002 The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein.

PMID 12846734 2003 A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees.

rs369925690 in PKHD1 gene and Nephronophthisis PMID 19914852 2010 PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.

PMID 11898128 2002 PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats.

PMID 15805161 2005 Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts.

PMID 15698423 2005 Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD).