Variant: rs121917768 

    present in Gene: UMOD
    present in Chromosome: 16
    Position on Chromosome: 20349071
    Alleles of this Variant: C/G;T

rs121917768 in UMOD gene and Hyperuricemic Nephropathy, Familial Juvenile 1 PMID 15086896 2004 Familial juvenile hyperuricemic nephropathy: detection of mutations in the uromodulin gene in five Japanese families.

PMID 22776760 2012 Novel uromodulin mutation in familial juvenile hyperuricemic nephropathy.

PMID 15983957 2005 A novel pattern of mutation in uromodulin disorders: autosomal dominant medullary cystic kidney disease type 2, familial juvenile hyperuricemic nephropathy, and autosomal dominant glomerulocystic kidney disease.

PMID 23988501 2013 Novel UMOD mutations in familial juvenile hyperuricemic nephropathy lead to abnormal uromodulin intracellular trafficking.

PMID 23197950 2012 A Japanese Family Suffering from Familial Juvenile Hyperuricemic Nephropathy due to a Rare Mutation of the Uromodulin Gene.

PMID 14570709 2003 Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics.

PMID 12900848 2003 Renal manifestations of a mutation in the uromodulin (Tamm Horsfall protein) gene.

PMID 12471200 2002 Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy.

PMID 15575003 2004 Functional consequences of a novel uromodulin mutation in a family with familial juvenile hyperuricaemic nephropathy.

PMID 12629136 2003 UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy.

PMID 17010121 2006 Defective intracellular trafficking of uromodulin mutant isoforms.

PMID 14569098 2003 A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin.

PMID 25436415 2015 Pathogenic uromodulin mutations result in premature intracellular polymerization.

PMID 21060763 2010 A case of familial juvenile hyperuricemic nephropathy with novel uromodulin gene mutation, a novel heterozygous missense mutation in Korea.