Variant: rs1555487621 

    present in Gene: UMOD
    present in Chromosome: 16
    Position on Chromosome: 20348943
    Alleles of this Variant: A/C

rs1555487621 in UMOD gene and Medullary Cystic Kidney Disease Type 2 PMID 27729211 2017 A new missense mutation in UMOD gene leads to severely reduced serum uromodulin concentrations - A tool for the diagnosis of uromodulin-associated kidney disease.

PMID 17010121 2006 Defective intracellular trafficking of uromodulin mutant isoforms.

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

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

PMID 14531790 2003 Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains.

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