NPHS1

NPHS1 adhesion molecule, nephrin

Summary

This gene encodes a member of the immunoglobulin family of cell adhesion molecules that functions in the glomerular filtration barrier in the kidney. The gene is primarily expressed in renal tissues, and the protein is a type-1 transmembrane protein found at the slit diaphragm of glomerular podocytes. The slit diaphragm is thought to function as an ultrafilter to exclude albumin and other plasma macromolecules in the formation of urine. Mutations in this gene result in Finnish-type congenital nephrosis 1, characterized by severe proteinuria and loss of the slit diaphragm and foot processes.[provided by RefSeq, Oct 2009]

Known Variants1,391 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7450938719:36,316,297T/G—benign
rs77780016119:36,316,305C/A—uncertain significance
rs18140552419:36,316,376G/A—uncertain significance
rs53679261819:36,316,395C/T—uncertain significance
rs56425643019:36,316,396G/A—uncertain significance
rs197279062919:36,316,454C/T—uncertain significance
rs88605434419:36,316,458C/A—uncertain significance
rs74565449419:36,316,528T/C—uncertain significance
rs90482863619:36,316,551A/G—uncertain significance
rs134265515119:36,316,651G/A—uncertain significance
rs53156998019:36,316,656A/G—uncertain significance
rs88605434519:36,316,657T/A—uncertain significance
rs55273159719:36,316,659A/G—uncertain significance
rs54943050219:36,316,665G/A—uncertain significance
rs8029692219:36,316,710T/C—likely benign
rs14420620619:36,316,807C/T—uncertain significance
rs7135410519:36,316,878C/T—likely benign
rs14875569719:36,316,887A/G—uncertain significance
rs88605434619:36,316,928A/G—uncertain significance
rs19964989019:36,316,933C/T—uncertain significance
rs11397894219:36,316,959T/C—benign
rs102814233719:36,316,997G/A—uncertain significance
rs15120436519:36,317,129G/A—uncertain significance
rs55084571619:36,317,144C/A—uncertain significance
rs11789401519:36,317,166C/T—uncertain significance
rs7392831619:36,317,270A/G—benign
rs56929548719:36,317,334C/A—uncertain significance
rs75310313319:36,317,419C/T—likely benign
rs15112191519:36,317,420A/G—conflicting classifications of pathogenicity
rs251374924719:36,317,422C/T—likely benign
rs19996131119:36,317,426T/A—uncertain significance
rs36851357819:36,317,428T/C—likely benign
rs155575814219:36,317,430C/A—uncertain significance
rs197280263919:36,317,434C/T—likely benign
rs77004672019:36,317,439C/T—likely benign
rs14137588819:36,317,440G/A—benign
rs197280277019:36,317,443G/A—likely benign
rs214680322519:36,317,449A/G—likely benign
rs11674468719:36,317,455G/A—conflicting classifications of pathogenicity
rs76187320519:36,317,463G/C—uncertain significance
rs197280302319:36,317,464A/G—likely benign
rs251374933919:36,317,472A/G—likely benign
rs135014630119:36,317,475C/T—uncertain significance
rs77164084619:36,317,477C/T—uncertain significance
rs76016038419:36,317,479G/T—likely benign
rs197280339819:36,317,482C/T—likely benign
rs76602534619:36,317,488G/A—likely benign
rs136827475319:36,317,491A/G—likely benign
rs11487922719:36,317,493A/C—conflicting classifications of pathogenicity
rs76332872919:36,317,497T/C—likely benign
rs90196598219:36,317,499C/T—uncertain significance
rs251374941319:36,317,503T/A—likely benign
rs156844787219:36,317,512A/G—likely benign
rs15031988219:36,317,515T/C—likely benign
rs75618598219:36,317,531T/C—likely benign
rs3524081119:36,317,544G/A—conflicting classifications of pathogenicity
rs38683394019:36,317,549T/Csplice region variantpathogenic
rs77212089519:36,317,551A/T—likely benign
rs121881546319:36,317,552C/T—likely benign
rs251374953419:36,317,554G/A—likely benign
rs214680336219:36,317,555G/A—likely benign
rs7730927319:36,317,556A/C—likely benign
rs251374956719:36,317,561A/G—likely benign
rs7392831719:36,317,583G/C—benign
rs46056019:36,321,525C/T—benign
rs7991948919:36,321,642G/A—likely benign
rs251375425819:36,321,729G/C—likely benign
rs36795805019:36,321,731T/C—likely benign
rs251375426819:36,321,732G/A—likely benign
rs75616526519:36,321,733C/A—likely benign
rs76639690519:36,321,737G/A—likely benign
rs37177371519:36,321,738C/T—likely benign
rs197286761619:36,321,744A/G—likely pathogenic
rs155575885619:36,321,745C/T—likely pathogenic
rs77933466519:36,321,749C/G—likely benign
rs91230057519:36,321,758A/G—likely benign
rs74795087719:36,321,761G/A—likely benign
rs77771878019:36,321,769G/C—uncertain significance
rs135317862119:36,321,771C/T—uncertain significance
rs11670025719:36,321,778C/T—conflicting classifications of pathogenicity
rs74544589019:36,321,785C/T—likely benign
rs55525526419:36,321,786G/A—conflicting classifications of pathogenicity
rs92954076419:36,321,788G/T—likely benign
rs76788721319:36,321,791G/T—pathogenic
rs76109011019:36,321,794C/T—likely benign
rs14300394019:36,321,795G/A—conflicting classifications of pathogenicity
rs53778308419:36,321,796T/C—uncertain significance
rs90498895019:36,321,800T/C—likely benign
rs146966127719:36,321,806C/T—likely benign
rs197287010119:36,321,809A/G—likely benign
rs75517558319:36,321,812A/G—likely benign
rs94887183119:36,321,814A/C—uncertain significance
rs76553446619:36,321,817A/G—likely benign
rs251375453319:36,321,818G/A—likely benign
rs11548911219:36,321,820G/A—conflicting classifications of pathogenicity
rs251375457519:36,321,836A/G—likely benign
rs128085059219:36,321,854G/A—likely benign
rs38683393919:36,321,858C/Amissense variantpathogenic
rs251375460319:36,321,860T/G—likely pathogenic
rs75713173319:36,321,861G/C—uncertain significance

Showing 100 of 1,391 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.