Variant: rs1131692280

present in Gene: PKD2 present in Chromosome: 4 Position on Chromosome: 88043458 Alleles of this Variant: G/A

rs1131692280 in PKD2 gene and Multiple congenital anomalies PMID 26275819 2015 A systematic review of the predictors of disease progression in patients with autosomal dominant polycystic kidney disease.

PMID 9856528 1998 PKD and CF: an interesting family provides insight into the molecular pathophysiology of polycystic kidney disease.

PMID 26364947 2015 Autosomal dominant polycystic kidney disease.

PMID 9856513 1998 Cystic fibrosis and the phenotypic expression of autosomal dominant polycystic kidney disease.

PMID 11007674 2000 Increased prevalence of polycystic kidney disease type 2 among elderly polycystic patients.

PMID 11095651 2000 CF gene and cystic fibrosis transmembrane conductance regulator expression in autosomal dominant polycystic kidney disease.

PMID 24925719 2014 Predictors of autosomal dominant polycystic kidney disease progression.

PMID 22383692 2012 Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing.

PMID 17429049 2007 Genotype-phenotype correlations in autosomal dominant and autosomal recessive polycystic kidney disease.

PMID 12707387 2003 Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease.

PMID 23376035 2013 Polycystin-2 mutations lead to impaired calcium cycling in the heart and predispose to dilated cardiomyopathy.

rs1131692280 in PKD2 gene and Polycystic Kidney, Autosomal Dominant PMID 11007674 2000 Increased prevalence of polycystic kidney disease type 2 among elderly polycystic patients.

PMID 12707387 2003 Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease.

PMID 17582161 2007 Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease.

PMID 22863349 2012 Clinical utility of PKD2 mutation testing in a polycystic kidney disease cohort attending a specialist nephrology out-patient clinic.

PMID 22383692 2012 Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing.