CDH23

cadherin related 23

Summary

This gene is a member of the cadherin superfamily, whose genes encode calcium dependent cell-cell adhesion glycoproteins. The encoded protein is thought to be involved in stereocilia organization and hair bundle formation. The gene is located in a region containing the human deafness loci DFNB12 and USH1D. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of this cadherin-like gene. Upregulation of this gene may also be associated with breast cancer. Alternative splice variants encoding different isoforms have been described. [provided by RefSeq, May 2013]

Known Variants4,406 total

rsidPosition (GRCh37)AllelesClassClinVar
rs88604712110:73,156,728C/G—uncertain significance
rs88604712210:73,156,735G/T—uncertain significance
rs88604712310:73,156,805G/A—uncertain significance
rs13974244310:73,156,823A/G—likely benign
rs54508128110:73,156,896G/C—uncertain significance
rs88604712610:73,156,913C/T—uncertain significance
rs119776335510:73,156,944G/A—uncertain significance
rs93994338210:73,157,026G/A—uncertain significance
rs88604712810:73,157,043G/C—uncertain significance
rs76092252910:73,157,066C/A—conflicting classifications of pathogenicity
rs184756525610:73,157,088A/C—uncertain significance
rs11755412310:73,161,001G/Aintron variant—
rs1074038110:73,199,333A/G—benign
rs11436777410:73,199,458T/G—benign
rs474715310:73,199,501C/A—benign
rs4128130210:73,199,588C/T—benign
rs129872105010:73,199,589A/T—uncertain significance
rs790275710:73,199,595C/T—likely benign
rs39751736310:73,199,596G/A—uncertain significance
rs137086464510:73,199,597C/T—likely benign
rs140801371410:73,199,609C/T—likely benign
rs213200509310:73,199,614G/T—uncertain significance
rs75278812410:73,199,615C/T—likely benign
rs97114235610:73,199,616C/T—uncertain significance
rs57295510710:73,199,618C/T—likely benign
rs184979092310:73,199,621G/A—likely benign
rs74962904210:73,199,624C/G—likely benign
rs132594128810:73,199,627G/A—likely pathogenic
rs122464122310:73,199,629T/C—uncertain significance
rs37144035010:73,199,630T/C—likely benign
rs90822238010:73,199,631T/C—likely benign
rs54033911610:73,199,639G/C—likely benign
rs125897391610:73,199,642C/T—likely benign
rs143102760110:73,199,653G/A—pathogenic
rs147927152110:73,199,654G/A—likely pathogenic
rs249282319610:73,199,656G/A—likely pathogenic
rs18654892710:73,199,663C/T—conflicting classifications of pathogenicity
rs76824510910:73,199,664A/G—likely benign
rs213200539510:73,199,665G/T—likely benign
rs7414496310:73,199,667C/T—benign
rs132255996610:73,199,672C/T—likely benign
rs128931099810:73,199,673C/T—likely benign
rs11554376910:73,199,674G/A—likely benign
rs790324510:73,199,827G/A—likely benign
rs11716576110:73,199,860A/G—likely benign
rs7328371710:73,205,907C/T—likely benign
rs7951361010:73,206,031T/C—benign
rs75008429910:73,206,056C/T—likely benign
rs123314575110:73,206,059G/T—likely benign
rs14245646910:73,206,072C/T—conflicting classifications of pathogenicity
rs213202346910:73,206,076C/A—likely benign
rs37076072310:73,206,086C/T—uncertain significance
rs116539782610:73,206,088G/A—likely benign
rs138345553110:73,206,094C/T—likely benign
rs77299575310:73,206,103C/T—likely benign
rs76629165610:73,206,108A/G—uncertain significance
rs95606948010:73,206,109C/T—likely benign
rs144032122310:73,206,120C/T—uncertain significance
rs99362139210:73,206,121A/G—likely benign
rs249286116710:73,206,122T/G—uncertain significance
rs131676979010:73,206,124C/T—likely benign
rs249286121110:73,206,125C/T—likely benign
rs213202357310:73,206,130G/A—likely benign
rs20192575310:73,206,136C/T—likely benign
rs139013315110:73,206,137G/A—uncertain significance
rs72750461310:73,206,144C/A—uncertain significance
rs76425419610:73,206,145G/A—likely benign
rs137991905710:73,206,146C/T—uncertain significance
rs185016956110:73,206,153G/T—likely pathogenic
rs37266083310:73,206,158T/G—uncertain significance
rs76365923410:73,206,159G/A—likely benign
rs53425216810:73,206,161G/A—likely benign
rs76556712410:73,206,162G/A—likely benign
rs249286177610:73,206,163G/A—likely benign
rs118713514910:73,206,165A/G—likely benign
rs249286182710:73,206,169G/A—likely benign
rs76287622810:73,206,171T/C—likely benign
rs118106627410:73,206,172G/T—likely benign
rs11515821210:73,206,178C/T—likely benign
rs1277061010:73,206,287C/T—benign
rs1099984510:73,240,361A/Gintron variant—
rs11558446410:73,269,686C/A—likely benign
rs790185910:73,269,692G/A—benign
rs229795310:73,269,714T/C—benign
rs11615007110:73,269,719C/T—likely benign
rs185387084410:73,269,822T/A—likely benign
rs185387104210:73,269,823C/T—likely benign
rs124391744010:73,269,825C/G—likely benign
rs213219565010:73,269,829G/T—likely benign
rs133123540810:73,269,830C/T—likely benign
rs77679074310:73,269,832A/G—likely benign
rs213219568810:73,269,833C/T—likely benign
rs185387253110:73,269,835C/G—likely benign
rs79472764910:73,269,837A/G—pathogenic
rs156462328010:73,269,838G/C—pathogenic
rs76142829510:73,269,851C/A—uncertain significance
rs213219576910:73,269,852C/G—likely benign
rs76545517210:73,269,853C/G—conflicting classifications of pathogenicity
rs6173249010:73,269,866A/G—likely benign
rs249318939210:73,269,867A/G—likely benign

Showing 100 of 4,406 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.