CLIC5

chloride intracellular channel 5

Summary

This gene encodes a member of the chloride intracellular channel (CLIC) family of chloride ion channels. The encoded protein associates with actin-based cytoskeletal structures and may play a role in multiple processes including hair cell stereocilia formation, myoblast proliferation and glomerular podocyte and endothelial cell maintenance. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

Known Variants146 total

rsidPosition (GRCh37)AllelesClassClinVar
rs5581149396:45,849,190G/A——
rs562538366:45,864,584A/T——
rs7721632106:45,870,830A/C—uncertain significance
rs7458603766:45,870,833G/A—uncertain significance
rs2020222026:45,870,842G/A—conflicting classifications of pathogenicity
rs1501433446:45,870,858G/A—likely benign
rs24811283176:45,870,884C/T—uncertain significance
rs1878978566:45,870,885T/A—benign
rs5426074246:45,870,910C/T—uncertain significance
rs3723005566:45,870,934C/T—uncertain significance
rs10437168936:45,870,937C/T—likely pathogenic
rs5399161616:45,870,957C/T—likely benign
rs14856293026:45,870,966A/G—likely benign
rs21272941976:45,870,967T/C—uncertain significance
rs2002043436:45,870,970T/G—uncertain significance
rs7648966986:45,870,973C/T—uncertain significance
rs7550174186:45,870,984G/A—likely benign
rs1117892606:45,871,198C/T—likely benign
rs728714276:45,880,173A/G—likely benign
rs64584776:45,880,311T/C—benign
rs757803436:45,880,479A/G—benign
rs758787546:45,880,485A/G—benign
rs7686311276:45,881,980C/T—likely benign
rs24811967026:45,881,994T/G—uncertain significance
rs24811967656:45,882,000C/T—uncertain significance
rs1456810606:45,882,038C/T—benign
rs1382547256:45,882,039G/A—conflicting classifications of pathogenicity
rs7641323786:45,882,041G/A—uncertain significance
rs1141493346:45,882,045C/G—likely benign
rs3677495466:45,882,054C/T—conflicting classifications of pathogenicity
rs2017811986:45,882,062G/T—uncertain significance
rs9224002406:45,882,069C/T—uncertain significance
rs1460520236:45,882,070G/A—likely benign
rs1483770146:45,882,076C/A—likely benign
rs1998093316:45,882,097C/A—likely benign
rs1415532366:45,882,118T/C—likely benign
rs1410367776:45,882,128G/A—likely benign
rs1996263736:45,882,154G/T—conflicting classifications of pathogenicity
rs14677556116:45,882,158G/A—likely benign
rs24811997846:45,882,165A/G—likely benign
rs1415603076:45,882,391A/G—likely benign
rs47148886:45,885,061G/C——
rs7798456026:45,909,273G/A—likely benign
rs24814108566:45,909,289T/C—uncertain significance
rs17641329136:45,909,330G/C—likely benign
rs7518753336:45,909,338T/C—uncertain significance
rs1393562656:45,909,339G/A—likely benign
rs1497001116:45,909,348C/T—likely benign
rs1433600186:45,909,349G/T—likely benign
rs5644387786:45,909,356T/C—conflicting classifications of pathogenicity
rs1172045616:45,909,364C/T—conflicting classifications of pathogenicity
rs7710842296:45,909,365G/A—uncertain significance
rs17641365356:45,909,394G/A—likely benign
rs21273680496:45,909,406C/T—likely benign
rs1401163496:45,909,410G/A—benign
rs1907852656:45,916,959C/G—likely benign
rs17643871346:45,916,977A/G—likely benign
rs358228826:45,916,999T/G—benign
rs1998086246:45,917,039C/T—conflicting classifications of pathogenicity
rs3772858096:45,917,050A/G—uncertain significance
rs1422187766:45,917,051C/T—uncertain significance
rs7572254856:45,917,052G/A—likely benign
rs17643928736:45,917,068A/G—no classification for the single variant
rs3730315466:45,917,076C/G—likely benign
rs1478169086:45,917,077G/A—uncertain significance
rs2007372966:45,917,083G/A—uncertain significance
rs1512031926:45,917,088G/A—likely benign
rs7621589086:45,917,097G/A—likely benign
rs7703463636:45,917,100G/A—likely benign
rs5618184626:45,917,113G/A—uncertain significance
rs13949590966:45,917,121G/A—likely benign
rs561314916:45,917,141G/T—benign
rs1891658866:45,917,440G/A—likely benign
rs747864006:45,922,796G/A—benign
rs37342066:45,922,849C/T—benign
rs1396980776:45,922,862C/T—likely benign
rs2000222986:45,922,903C/T—uncertain significance
rs7573474926:45,922,924T/A—uncertain significance
rs7816770916:45,922,935C/T—uncertain significance
rs3677095206:45,922,946A/T—likely benign
rs6062313086:45,922,949A/Tstop gainedpathogenic
rs1452504356:45,922,972C/T—benign
rs5435645006:45,922,973G/A—likely benign
rs69093066:45,923,126A/C—benign
rs20272746:45,934,080A/Gintron variant—
rs20272756:45,934,153T/G——
rs1476972256:45,963,659T/Aintron variant—
rs94726626:45,982,976G/A—benign
rs1159821206:45,983,076G/C—benign
rs17669681536:45,983,216C/T—no classification for the single variant
rs3762323436:45,983,241G/T—likely benign
rs5448621746:45,983,307G/T—likely benign
rs1163328146:45,983,566C/A—benign
rs94726636:45,983,683C/G—benign
rs7622348456:45,985,349G/A——
rs1149183806:46,022,499C/Tintron variant—
rs3683279026:46,036,879G/T——
rs93695966:46,047,134C/T—benign
rs93814226:46,047,140T/C—benign
rs94726846:46,047,149T/C—benign

Showing 100 of 146 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.