CTNS

cystinosin, lysosomal cystine transporter

Summary

This gene encodes a seven-transmembrane domain protein that functions to transport cystine out of lysosomes. Its activity is driven by the H+ electrochemical gradient of the lysosomal membrane. Mutations in this gene cause cystinosis, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]

Known Variants620 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7783806417:3,539,581G/T—benign
rs11154127417:3,539,627A/T—benign
rs53711068017:3,539,710C/T—uncertain significance
rs88765777817:3,539,712G/T—pathogenic
rs11214094917:3,539,720G/Cregulatory region variantpathogenic
rs13891326117:3,539,721C/T—benign
rs103178335917:3,539,774A/T—uncertain significance
rs11197780217:3,539,835T/C—benign
rs53494632917:3,539,846C/G—uncertain significance
rs53037178817:3,539,858C/T—uncertain significance
rs37326010717:3,539,879G/A—likely benign
rs1165760617:3,539,897C/T—benign
rs101247999317:3,539,904A/G—uncertain significance
rs88605286017:3,539,926T/C—uncertain significance
rs88605286117:3,539,991G/T—uncertain significance
rs88605286217:3,539,993C/T—uncertain significance
rs1770786917:3,540,042G/A—benign
rs53436869217:3,540,083A/C—uncertain significance
rs55922938317:3,540,097G/A—uncertain significance
rs11600021917:3,540,136A/G—benign
rs53756746317:3,540,417T/C—uncertain significance
rs88605286317:3,540,494C/A—uncertain significance
rs88605286417:3,540,556A/T—uncertain significance
rs88605286517:3,540,583A/C—uncertain significance
rs88605286617:3,540,606C/T—uncertain significance
rs78003286117:3,540,623T/C—uncertain significance
rs45625317:3,543,271A/G—benign
rs155555803417:3,543,481G/A—likely pathogenic
rs37270193517:3,543,493C/T—uncertain significance
rs207565092517:3,543,501A/T—pathogenic
rs76818833717:3,543,505T/C—uncertain significance
rs55037583017:3,543,512T/C—likely benign
rs139003247517:3,543,515G/A—pathogenic
rs54798797917:3,543,522A/G—uncertain significance
rs75409269117:3,543,529T/C—likely benign
rs207565182217:3,543,530C/A—likely benign
rs37006880917:3,543,539C/T—likely benign
rs207565225717:3,543,540C/T—likely benign
rs90336876817:3,543,548C/T—likely benign
rs74764728717:3,543,549G/A—uncertain significance
rs215088900917:3,543,561G/T—pathogenic
rs155555811617:3,543,562G/A—likely pathogenic
rs76728912017:3,543,563T/C—likely pathogenic
rs140749855517:3,543,566G/A—pathogenic
rs76270158517:3,543,568T/C—likely benign
rs215088902817:3,543,569T/G—likely benign
rs77115311717:3,543,571G/T—likely benign
rs250763488717:3,543,578C/G—likely benign
rs37406835417:3,543,580C/T—likely benign
rs76001901817:3,543,581G/A—likely benign
rs44383617:3,544,729A/T——
rs22450417:3,549,268C/Aintron variant—
rs8030847717:3,550,514T/C—benign
rs250768581717:3,550,719T/C—likely benign
rs250768585317:3,550,724T/G—likely benign
rs215090456117:3,550,730C/T—likely benign
rs207586893217:3,550,733T/C—likely benign
rs155556063717:3,550,736A/G—likely pathogenic
rs159761971917:3,550,737G/A—pathogenic
rs207586921217:3,550,740T/A—uncertain significance
rs74812507017:3,550,742A/C—likely benign
rs14264236217:3,550,745C/T—likely benign
rs76914828817:3,550,746G/A—uncertain significance
rs77736731617:3,550,749A/T—likely pathogenic
rs156770122917:3,550,752C/T—uncertain significance
rs207586984417:3,550,754C/G—likely benign
rs57631545717:3,550,756C/A—conflicting classifications of pathogenicity
rs77421506317:3,550,757T/C—likely benign
rs75992110217:3,550,758G/C—uncertain significance
rs250768624517:3,550,762C/T—uncertain significance
rs215090463617:3,550,764C/T—uncertain significance
rs207587036417:3,550,766T/C—likely benign
rs77256926017:3,550,769C/T—likely benign
rs14668440217:3,550,770G/A—conflicting classifications of pathogenicity
rs215090466117:3,550,775G/A—likely benign
rs207587121717:3,550,778G/A—likely benign
rs215090468017:3,550,781G/A—likely benign
rs11740482417:3,550,784T/C—uncertain significance
rs14475139017:3,550,792C/T—conflicting classifications of pathogenicity
rs76542819317:3,550,793G/A—likely benign
rs37083332817:3,550,798A/C—uncertain significance
rs14808408017:3,550,799C/T—likely benign
rs3508688817:3,550,800G/Amissense variantpathogenic
rs75605821717:3,550,808C/T—likely benign
rs250768682017:3,550,811C/A—likely benign
rs20115377017:3,550,815C/T—uncertain significance
rs74574479817:3,550,816G/A—uncertain significance
rs156770141517:3,550,817G/T—pathogenic
rs207587277317:3,550,818T/C—pathogenic
rs77864172917:3,550,819A/G—uncertain significance
rs53343030017:3,550,822T/C—uncertain significance
rs156770145017:3,550,825C/T—likely benign
rs215090479017:3,550,826T/C—likely benign
rs95612874417:3,550,827G/A—likely benign
rs207587327917:3,550,828G/C—likely benign
rs215090480717:3,550,831C/T—likely benign
rs54409844517:3,550,835C/T—likely benign
rs77597397717:3,550,836G/A—likely benign
rs22277817:3,552,038G/A—benign
rs250769601817:3,552,117T/C—pathogenic

Showing 100 of 620 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.