Variant: rs137852944 

    present in Gene: PKHD1
    present in Chromosome: 6
    Position on Chromosome: 52083201
    Alleles of this Variant: G/A

rs137852944 in PKHD1 gene and Autosomal Recessive Polycystic Kidney Disease PMID 12506140 2003 Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).

PMID 12874454 2003 Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations.

PMID 15696446 2005 Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney disease.

PMID 15108281 2004 PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD).

PMID 15108277 2004 PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD).

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

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

PMID 16133180 2005 Analysis of missense variants in the PKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD).

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

PMID 16199545 2005 Multi-exon deletions of the PKHD1 gene cause autosomal recessive polycystic kidney disease (ARPKD).

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

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

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

PMID 21274727 2011 First, we assayed a European cohort of ARPKD patients and found T36M was responsible for 13.1% of mutations.

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

PMID 16677362 2006 Successful transplantation in a child with rapid progression of autosomal recessive polycystic kidney disease associated with a novel mutation.

PMID 25124979 2014 Clinical characteristics and mutation analysis of three Chinese children with autosomal recessive polycystic kidney disease.

rs137852944 in PKHD1 gene and Polycystic liver disease PMID 28375157 2017 Isolated polycystic liver disease genes define effectors of polycystin-1 function.