CLDN14

claudin 14

Summary

Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. These junctions are comprised of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. The protein encoded by this gene, a member of the claudin family, is an integral membrane protein and a component of tight junction strands. The encoded protein also binds specifically to the WW domain of Yes-associated protein. Defects in this gene are the cause of an autosomal recessive form of nonsyndromic sensorineural deafness. It is also reported that four synonymous variants in this gene are associated with kidney stones and reduced bone mineral density. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jun 2010]

Known Variants142 total

rsidPosition (GRCh37)AllelesClassClinVar
rs21978121:37,832,621G/Tdownstream gene variant—
rs56112682921:37,832,918A/G—uncertain significance
rs208655575021:37,833,052A/G—uncertain significance
rs11211244321:37,833,167C/T—uncertain significance
rs36996683021:37,833,208C/T—uncertain significance
rs11455150621:37,833,223C/T—likely benign
rs19952351621:37,833,226C/T—conflicting classifications of pathogenicity
rs13962844221:37,833,264C/G—conflicting classifications of pathogenicity
rs20121844921:37,833,279C/T—uncertain significance
rs78620484121:37,833,300C/Tmissense variantpathogenic
rs14973385421:37,833,304G/A—conflicting classifications of pathogenicity
rs21978021:37,833,307C/Tsynonymous variantbenign
rs76308514821:37,833,313C/T—conflicting classifications of pathogenicity
rs38790741421:37,833,331C/T—uncertain significance
rs54898129021:37,833,333G/A—uncertain significance
rs251704433321:37,833,341T/C—uncertain significance
rs74897363821:37,833,348C/A—uncertain significance
rs6174529121:37,833,361G/A—benign
rs91271111921:37,833,368G/A—uncertain significance
rs37129757521:37,833,372C/T—uncertain significance
rs13943715721:37,833,373G/A—conflicting classifications of pathogenicity
rs14967182621:37,833,380G/A—uncertain significance
rs76331365821:37,833,388C/G—likely benign
rs56485129221:37,833,389G/A—uncertain significance
rs76021948721:37,833,391G/T—likely benign
rs37484028521:37,833,403C/T—likely benign
rs14437138421:37,833,406G/T—likely benign
rs20065124621:37,833,407G/A—uncertain significance
rs37210535321:37,833,414A/G—uncertain significance
rs208656357421:37,833,416G/A—uncertain significance
rs115652110221:37,833,425G/A—uncertain significance
rs74544197221:37,833,432C/T—uncertain significance
rs37590446821:37,833,435C/A—uncertain significance
rs214640998521:37,833,445C/T—likely benign
rs75959783821:37,833,459T/C—uncertain significance
rs37322652621:37,833,469G/A—likely benign
rs76065776321:37,833,471G/A—uncertain significance
rs76384653721:37,833,472C/T—conflicting classifications of pathogenicity
rs75684753621:37,833,481C/G—uncertain significance
rs7561747421:37,833,482G/A—uncertain significance
rs155584163721:37,833,489T/C—likely benign
rs37367229621:37,833,499G/A—likely benign
rs214641025421:37,833,504G/T—uncertain significance
rs14379711321:37,833,506G/Amissense variantpathogenic
rs14686044221:37,833,523C/T—likely benign
rs74960329621:37,833,531C/T—uncertain significance
rs77120829521:37,833,532G/T—uncertain significance
rs74610255921:37,833,544C/A—conflicting classifications of pathogenicity
rs77656448821:37,833,567C/T—uncertain significance
rs14675554221:37,833,570C/T—uncertain significance
rs251704573721:37,833,578G/A—uncertain significance
rs14284622521:37,833,580C/T—likely pathogenic
rs14091812321:37,833,588C/T—conflicting classifications of pathogenicity
rs103103382821:37,833,591C/A—uncertain significance
rs78620088521:37,833,596——pathogenic
rs75759777221:37,833,597T/C—uncertain significance
rs88605704921:37,833,616G/C—uncertain significance
rs72750293821:37,833,625G/T—likely benign
rs76959911021:37,833,630C/T—uncertain significance
rs76341186321:37,833,631G/A—likely benign
rs15020170421:37,833,633C/T—uncertain significance
rs37034228521:37,833,647G/A—uncertain significance
rs251704620621:37,833,651T/C—uncertain significance
rs13863146121:37,833,657C/G—association
rs76454851621:37,833,673G/A—conflicting classifications of pathogenicity
rs74725408621:37,833,677C/T—uncertain significance
rs14025718221:37,833,678G/A—uncertain significance
rs78116743021:37,833,679C/T—likely benign
rs74811091521:37,833,680G/A—uncertain significance
rs7431543821:37,833,693C/Tmissense variantpathogenic
rs11335036421:37,833,694G/A—benign
rs37110697821:37,833,699C/T—uncertain significance
rs37440002221:37,833,700G/A—likely benign
rs75931343221:37,833,702C/T—uncertain significance
rs57739394821:37,833,721C/T—conflicting classifications of pathogenicity
rs214641127421:37,833,728A/G—uncertain significance
rs75621834121:37,833,732A/G—uncertain significance
rs7431543721:37,833,740A/Tmissense variantpathogenic
rs21977921:37,833,751G/A—benign
rs36802730621:37,833,752C/Tmissense variantpathogenic
rs57358822621:37,833,779G/A—uncertain significance
rs251704712921:37,833,788G/A—uncertain significance
rs156883933521:37,833,803C/T—likely pathogenic
rs14822389721:37,833,809T/C—conflicting classifications of pathogenicity
rs75733476021:37,833,813T/A—uncertain significance
rs74560127421:37,833,825G/A—uncertain significance
rs37110079921:37,833,827C/Tstop gainedpathogenic
rs148175701921:37,833,838C/T—uncertain significance
rs14113961321:37,833,864C/T—uncertain significance
rs15073162521:37,833,865G/A—conflicting classifications of pathogenicity
rs14220503821:37,833,888C/T—uncertain significance
rs56076354221:37,833,889G/A—likely benign
rs14639532221:37,833,892C/T—likely benign
rs75403237421:37,833,893G/A—uncertain significance
rs88605705021:37,833,898C/G—uncertain significance
rs104103141521:37,833,902C/T—uncertain significance
rs75742676421:37,833,903G/A—uncertain significance
rs127384242421:37,833,905C/T—pathogenic
rs77892794221:37,833,910C/T—likely benign
rs72750498921:37,833,911G/A—conflicting classifications of pathogenicity

Showing 100 of 142 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.