OTOGL

otogelin like

Summary

The protein encoded by this gene belongs to the otogelin family. This gene is expressed in the inner ear of vertebrates with the highest level of expression seen at the embryonic stage and lowest in adult. Knockdown studies in zebrafish suggest that this gene is essential for normal inner ear function. Mutations in this gene are associated with autosomal recessive deafness. [provided by RefSeq, Dec 2012]

Known Variants822 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1050682112:80,496,923C/Gcoding sequence variant—
rs127799667612:80,603,239A/G—pathogenic
rs53910019412:80,603,245C/A—uncertain significance
rs119151207212:80,603,250G/A—likely pathogenic
rs37186553812:80,603,266C/T—uncertain significance
rs53432120212:80,603,289A/T—uncertain significance
rs147709183112:80,603,295G/A—uncertain significance
rs96373828212:80,603,301A/T—likely benign
rs484234412:80,603,406T/A—benign
rs124490912:80,603,419A/G—benign
rs11613087912:80,604,329A/G—likely benign
rs14790235312:80,604,640A/G—likely benign
rs76001167712:80,604,642C/T—uncertain significance
rs11741139112:80,604,647A/G—conflicting classifications of pathogenicity
rs76642843012:80,604,651T/C—uncertain significance
rs76409338912:80,604,662T/C—uncertain significance
rs19099792412:80,604,667G/A—likely pathogenic
rs213731033612:80,604,672T/C—uncertain significance
rs75392343912:80,604,673A/G—likely benign
rs8008684612:80,604,767G/A—likely benign
rs1700650512:80,604,800A/C—benign
rs18367261312:80,604,903T/C—likely benign
rs18290250912:80,605,732C/T—likely benign
rs14911788712:80,605,733G/A—uncertain significance
rs37551706612:80,605,735G/A—benign
rs123450729812:80,605,761C/T—uncertain significance
rs76419325412:80,605,770C/A—uncertain significance
rs14672918912:80,605,831G/A—likely benign
rs18989700212:80,611,370T/C—conflicting classifications of pathogenicity
rs74552028512:80,611,371T/A—uncertain significance
rs76730557412:80,611,410T/C—likely benign
rs187786918512:80,611,411G/A—uncertain significance
rs36947381012:80,611,423T/C—uncertain significance
rs37277163112:80,611,440A/C—likely benign
rs731016612:80,611,721C/T—benign
rs76994941212:80,613,584T/C—likely benign
rs77319956712:80,613,585C/G—likely benign
rs76320671812:80,613,591C/T—uncertain significance
rs76656498812:80,613,592A/G—conflicting classifications of pathogenicity
rs77534931512:80,613,600G/A—uncertain significance
rs140609354512:80,613,613C/T—likely benign
rs18090597212:80,613,622A/T—likely benign
rs20126443312:80,613,641G/A—uncertain significance
rs37411294812:80,613,651A/G—conflicting classifications of pathogenicity
rs254092595412:80,613,669C/T—uncertain significance
rs143018855312:80,613,678C/T—uncertain significance
rs254092611612:80,613,682A/T—uncertain significance
rs53128840512:80,613,683T/C—uncertain significance
rs37776176712:80,613,693G/C—likely pathogenic
rs11795992112:80,613,753A/G—likely benign
rs1077872012:80,613,882A/G—benign
rs20091208412:80,615,879A/C—benign
rs254093236412:80,615,881G/T—uncertain significance
rs74981160612:80,615,887C/T—likely benign
rs77232791512:80,615,938C/T—likely benign
rs20026216812:80,615,939G/T—uncertain significance
rs55706256812:80,615,959C/T—likely benign
rs76733966512:80,615,978A/G—uncertain significance
rs139991221212:80,615,990G/T—uncertain significance
rs254093308112:80,615,993T/A—uncertain significance
rs19160822512:80,616,011C/T—uncertain significance
rs6080328212:80,616,255A/G—benign
rs7335699812:80,616,288G/A—benign
rs18636596412:80,622,699G/A—benign
rs11159473812:80,622,994A/G—benign
rs77517650012:80,623,059T/G—uncertain significance
rs37761116412:80,623,065C/T—uncertain significance
rs18152816812:80,623,066G/A—likely benign
rs37435534412:80,623,082C/T—uncertain significance
rs39751458812:80,623,121C/Tstop gainedpathogenic
rs54089293612:80,623,122G/A—uncertain significance
rs75159151212:80,626,707T/C—uncertain significance
rs254096032112:80,626,723C/A—uncertain significance
rs37029897612:80,626,768C/T—likely benign
rs129139430912:80,626,775T/C—uncertain significance
rs37662434512:80,626,801G/C—uncertain significance
rs75998869512:80,626,803A/C—uncertain significance
rs37430847212:80,626,823G/C—uncertain significance
rs116215186412:80,626,826C/G—uncertain significance
rs76019333212:80,626,842A/G—uncertain significance
rs14417646012:80,626,852A/G—likely benign
rs37108647412:80,626,869T/A—uncertain significance
rs74636115512:80,626,875A/T—uncertain significance
rs77250960612:80,626,876A/G—uncertain significance
rs145110512:80,626,970T/G—benign
rs7335891412:80,627,046A/G—likely benign
rs11417533312:80,627,147G/A—likely benign
rs1111435912:80,632,556A/G—benign
rs1111436012:80,632,583T/C—benign
rs75263788712:80,632,623T/C—likely benign
rs75556853712:80,632,632G/C—uncertain significance
rs76798773612:80,632,650C/T—likely benign
rs14719595412:80,632,673C/T—conflicting classifications of pathogenicity
rs54030115412:80,632,674G/A—likely benign
rs129996628312:80,632,676T/G—uncertain significance
rs77689139012:80,632,703T/G—uncertain significance
rs37711265212:80,632,707C/T—likely benign
rs76543771212:80,632,711C/A—uncertain significance
rs117415616612:80,632,712C/T—uncertain significance
rs90272463212:80,632,713C/T—likely benign

Showing 100 of 822 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.