CLCN1

chloride voltage-gated channel 1

Summary

The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics while sharing significant sequence homology. The protein encoded by this gene regulates the electric excitability of the skeletal muscle membrane. Mutations in this gene cause two forms of inherited human muscle disorders: recessive generalized myotonia congenita (Becker) and dominant myotonia (Thomsen). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]

Known Variants1,186 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1490771797:143,013,057G/A—likely benign
rs64645417:143,013,171T/G—benign
rs24870145277:143,013,247C/A—uncertain significance
rs349048317:143,013,285T/C—likely benign
rs1919022317:143,013,290C/G—benign
rs1826680767:143,013,291T/G—benign
rs22806637:143,013,292C/A—benign
rs5554091857:143,013,314A/G—likely benign
rs13224962447:143,013,318C/T—conflicting classifications of pathogenicity
rs2013272617:143,013,319G/A—uncertain significance
rs7568110517:143,013,320G/T—likely benign
rs24870150447:143,013,323A/G—likely benign
rs24870150497:143,013,324C/T—pathogenic
rs1503048657:143,013,329G/A—likely benign
rs7453440727:143,013,330C/A—uncertain significance
rs1153790777:143,013,331G/A—likely benign
rs15630718757:143,013,337G/C—uncertain significance
rs7806961397:143,013,338T/C—likely benign
rs1430256487:143,013,342C/A—uncertain significance
rs11947174557:143,013,348T/C—uncertain significance
rs7690925357:143,013,352G/A—pathogenic
rs7745259617:143,013,358G/T—uncertain significance
rs8860620317:143,013,362C/A—uncertain significance
rs7607291307:143,013,374G/C—uncertain significance
rs24870155217:143,013,386T/A—uncertain significance
rs1461600297:143,013,391A/C—conflicting classifications of pathogenicity
rs7569777437:143,013,396A/G—uncertain significance
rs1389221457:143,013,404C/A—pathogenic
rs2008893997:143,013,405G/A—uncertain significance
rs24870157127:143,013,410G/C—likely benign
rs24870157187:143,013,412C/T—uncertain significance
rs7498330887:143,013,413C/T—likely benign
rs7554142847:143,013,422T/G—uncertain significance
rs2003442977:143,013,425G/C—likely benign
rs5632750937:143,013,432C/T—pathogenic
rs8688314247:143,013,433A/C—uncertain significance
rs21168295887:143,013,437C/T—likely benign
rs3717156607:143,013,438A/G—uncertain significance
rs18022917847:143,013,440G/A—likely benign
rs1850317977:143,013,444C/T—conflicting classifications of pathogenicity
rs7471663287:143,013,445G/A—uncertain significance
rs5609222117:143,013,449G/A—likely benign
rs15864795277:143,013,452T/C—likely benign
rs7629967417:143,013,453G/A—uncertain significance
rs7639073957:143,013,454C/G—uncertain significance
rs14871697217:143,013,456G/A—uncertain significance
rs15544337997:143,013,458C/T—likely benign
rs18022924767:143,013,459C/G—uncertain significance
rs8860620327:143,013,461C/T—conflicting classifications of pathogenicity
rs7673660937:143,013,462C/T—uncertain significance
rs7501073867:143,013,463G/T—uncertain significance
rs7532519957:143,013,470C/T—likely benign
rs2021204267:143,013,471G/A—uncertain significance
rs21168297097:143,013,473C/T—likely benign
rs15864795887:143,013,479C/G—likely benign
rs15864795967:143,013,482A/G—likely benign
rs12961036877:143,013,485G/A—uncertain significance
rs2022174207:143,013,488A/Tsplice region variantpathogenic
rs21168297597:143,013,489A/G—uncertain significance
rs15630720187:143,013,493G/T—likely benign
rs7586930067:143,013,495T/C—likely benign
rs5404245677:143,013,496C/T—likely benign
rs7472562427:143,013,497T/C—likely benign
rs5407205497:143,013,503G/A—likely benign
rs748568577:143,016,571C/T—likely benign
rs24870255527:143,016,834C/G—likely benign
rs24870255607:143,016,836C/G—likely benign
rs18023762317:143,016,846A/G—likely pathogenic
rs24870257217:143,016,848A/C—uncertain significance
rs7813837457:143,016,854G/A—uncertain significance
rs21168345137:143,016,856C/A—likely benign
rs24870257627:143,016,860C/G—uncertain significance
rs18023763557:143,016,861A/G—uncertain significance
rs18023766867:143,016,871A/G—likely benign
rs9654810557:143,016,874C/T—likely benign
rs7693128947:143,016,876C/A—pathogenic
rs12194153847:143,016,881A/G—uncertain significance
rs8860620337:143,016,882G/C—uncertain significance
rs12087489067:143,016,886G/A—likely benign
rs15544344007:143,016,887C/T—pathogenic
rs15864830607:143,016,891A/T—uncertain significance
rs24870259207:143,016,895A/C—likely benign
rs24870259427:143,016,902C/T—uncertain significance
rs11941830487:143,016,904C/T—likely benign
rs1494071487:143,016,908A/G—uncertain significance
rs7721003567:143,016,911A/G—likely benign
rs21168346577:143,016,912C/T—uncertain significance
rs11931573497:143,016,920A/G—uncertain significance
rs13940987627:143,016,926A/T—conflicting classifications of pathogenicity
rs18023779817:143,016,927C/T—uncertain significance
rs69628527:143,016,928T/C—likely benign
rs1475817947:143,016,929G/A—conflicting classifications of pathogenicity
rs7591884417:143,016,931G/A—pathogenic
rs9486345257:143,016,933A/G—uncertain significance
rs24870261417:143,016,940G/A—likely benign
rs13915428457:143,016,944G/A—uncertain significance
rs15864831787:143,016,948A/T—uncertain significance
rs7646760327:143,016,952C/T—likely benign
rs13203516837:143,016,953T/C—uncertain significance
rs2015918397:143,016,956T/C—uncertain significance

Showing 100 of 1,186 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.