UMOD

uromodulin

Summary

The protein encoded by this gene is the most abundant protein in mammalian urine under physiological conditions. Its excretion in urine follows proteolytic cleavage of the ectodomain of its glycosyl phosphatidylinosital-anchored counterpart that is situated on the luminal cell surface of the loop of Henle. This protein may act as a constitutive inhibitor of calcium crystallization in renal fluids. Excretion of this protein in urine may provide defense against urinary tract infections caused by uropathogenic bacteria. Defects in this gene are associated with the renal disorders medullary cystic kidney disease-2 (MCKD2), glomerulocystic kidney disease with hyperuricemia and isosthenuria (GCKDHI), and familial juvenile hyperuricemic nephropathy (FJHN). Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2013]

Known Variants383 total

rsidPosition (GRCh37)AllelesClassClinVar
rs142271057316:20,344,374G/C—uncertain significance
rs88605178116:20,344,405T/C—uncertain significance
rs11346866716:20,344,506G/A—benign
rs11169993116:20,344,532A/G—benign
rs54751454816:20,344,548C/T—uncertain significance
rs88605178316:20,344,577C/T—uncertain significance
rs77078993716:20,344,597G/A—uncertain significance
rs19990472616:20,344,628G/A—uncertain significance
rs77668523616:20,344,640T/C—not provided
rs14516586116:20,344,643A/G—likely benign
rs75192725616:20,344,658G/A—likely benign
rs78177494616:20,344,660G/A—likely benign
rs75223144316:20,344,663C/T—likely benign
rs75570538416:20,344,664G/A—uncertain significance
rs118746205716:20,344,687T/C—likely benign
rs136936869216:20,344,689T/C—uncertain significance
rs250732182116:20,344,707A/G—likely benign
rs99315407516:20,344,714G/T—likely benign
rs7799938816:20,344,889C/T—benign
rs14667258216:20,345,216C/Tintron variant—
rs993507516:20,346,545T/C—benign
rs250733102716:20,346,794C/T—likely benign
rs98562178016:20,346,805C/G—uncertain significance
rs196482194516:20,346,846T/C—likely benign
rs463535516:20,347,156A/G—benign
rs54073876216:20,347,952C/T—likely benign
rs133020578516:20,347,965T/C—uncertain significance
rs20039979816:20,347,973C/T—uncertain significance
rs147133455916:20,347,983G/A—uncertain significance
rs250733615316:20,347,994A/G—uncertain significance
rs38790754916:20,348,027C/T—conflicting classifications of pathogenicity
rs75487940916:20,348,028G/A—uncertain significance
rs11199241516:20,348,036G/A—conflicting classifications of pathogenicity
rs14364129216:20,348,048G/T—conflicting classifications of pathogenicity
rs97520166716:20,348,061G/A—likely benign
rs11618954816:20,348,221T/C—likely benign
rs7401192116:20,348,515G/C—likely benign
rs11667489616:20,348,575G/A—likely benign
rs11345247616:20,348,595G/A—likely benign
rs37091304616:20,348,603G/A—likely benign
rs250733972616:20,348,620C/A—uncertain significance
rs196493284216:20,348,628A/T—uncertain significance
rs196493540616:20,348,648A/C—uncertain significance
rs102249006516:20,348,659T/C—uncertain significance
rs20047324916:20,348,673G/C—uncertain significance
rs19963351316:20,348,692C/T—uncertain significance
rs75259444516:20,348,693G/A—uncertain significance
rs18870958316:20,348,705C/T—conflicting classifications of pathogenicity
rs78035890016:20,348,713C/T—uncertain significance
rs74831822916:20,348,714G/A—uncertain significance
rs76898402316:20,348,717C/T—uncertain significance
rs120919561316:20,348,720G/A—uncertain significance
rs78141083016:20,348,724G/A—likely benign
rs56272692516:20,348,730C/A—conflicting classifications of pathogenicity
rs250734073016:20,348,745T/C—likely benign
rs196494805216:20,348,748G/T—likely benign
rs196495006616:20,348,761C/G—uncertain significance
rs122894260916:20,348,767T/C—uncertain significance
rs77220019516:20,348,783G/T—uncertain significance
rs7277665816:20,348,995C/T—likely benign
rs7277665916:20,349,054G/C—benign
rs1185991616:20,351,231G/Aintron variant—
rs14807832416:20,352,393T/A—benign
rs146406601716:20,352,401C/A—likely benign
rs18405542016:20,352,402C/T—likely benign
rs250735493716:20,352,429A/G—uncertain significance
rs76530673216:20,352,444C/A—uncertain significance
rs37595925216:20,352,445C/T—likely benign
rs55052197616:20,352,446G/A—conflicting classifications of pathogenicity
rs196518920816:20,352,470T/C—uncertain significance
rs77809466716:20,352,484G/A—likely benign
rs20089598616:20,352,490T/C—likely benign
rs18839761316:20,352,497C/T—conflicting classifications of pathogenicity
rs36899319716:20,352,498G/A—conflicting classifications of pathogenicity
rs14191263716:20,352,526G/A—likely benign
rs155548602116:20,352,527C/T—likely pathogenic
rs37515876916:20,352,531C/T—uncertain significance
rs14180003816:20,352,532G/T—conflicting classifications of pathogenicity
rs132944667316:20,352,544C/T—likely benign
rs196519635516:20,352,545T/A—uncertain significance
rs74654194916:20,352,551G/T—uncertain significance
rs37299114516:20,352,556T/C—likely benign
rs74791553816:20,352,561C/T—uncertain significance
rs76479084216:20,352,562G/A—likely benign
rs143144122316:20,352,574G/A—likely benign
rs214164829816:20,352,578G/C—likely pathogenic
rs250735597616:20,352,581T/C—uncertain significance
rs76425155916:20,352,583C/T—likely benign
rs14358384216:20,352,584G/A—conflicting classifications of pathogenicity
rs37341201716:20,352,600G/A—uncertain significance
rs14722240116:20,352,607C/T—likely benign
rs78047591816:20,352,608G/Amissense variantuncertain significance
rs20176137816:20,352,614C/T—likely benign
rs13960713816:20,352,615G/A—conflicting classifications of pathogenicity
rs5577225316:20,352,618A/C—uncertain significance
rs140837865216:20,352,625C/T—uncertain significance
rs196520346816:20,352,626A/C—uncertain significance
rs77087576316:20,352,628G/T—likely benign
rs77417343116:20,352,630C/T—uncertain significance
rs14446148716:20,352,631G/A—likely benign

Showing 100 of 383 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.