CDH15

cadherin 15

Summary

This gene is a member of the cadherin superfamily of genes, encoding calcium-dependent intercellular adhesion glycoproteins. Cadherins consist of an extracellular domain containing 5 cadherin domains, a transmembrane region, and a conserved cytoplasmic domain. Transcripts from this particular cadherin are expressed in myoblasts and upregulated in myotubule-forming cells. The protein is thought to be essential for the control of morphogenetic processes, specifically myogenesis, and may provide a trigger for terminal muscle cell differentiation. [provided by RefSeq, Jul 2008]

Known Variants237 total

rsidPosition (GRCh37)AllelesClassClinVar
rs125704813916:89,238,241T/A—uncertain significance
rs56790392116:89,238,261G/C—uncertain significance
rs77570528116:89,245,826C/G—uncertain significance
rs254395167516:89,245,857A/C—likely benign
rs145574845516:89,245,858G/A—uncertain significance
rs36777050516:89,245,888G/A—conflicting classifications of pathogenicity
rs228735916:89,245,890G/T—benign
rs105210500816:89,245,891C/T—uncertain significance
rs37321602516:89,245,892G/A—likely benign
rs13861042516:89,245,908G/T—uncertain significance
rs37658387416:89,245,911C/T—conflicting classifications of pathogenicity
rs19987910216:89,245,912G/A—conflicting classifications of pathogenicity
rs14117043116:89,245,913G/T—likely benign
rs37320491616:89,245,933C/T—uncertain significance
rs7654940016:89,245,934G/A—benign
rs13857216116:89,245,941G/A—conflicting classifications of pathogenicity
rs53314196816:89,245,946C/T—likely benign
rs14879864716:89,245,952C/T—likely benign
rs228735816:89,245,955C/T—benign
rs12143453916:89,245,959C/Tmissense variantlikely benign
rs14144466016:89,245,960G/A—uncertain significance
rs76358271516:89,245,964C/T—likely benign
rs14633611816:89,246,616G/C—likely benign
rs147050318816:89,246,629C/A—uncertain significance
rs58778029916:89,246,633G/A—uncertain significance
rs13951055416:89,246,637C/T—benign
rs14421651116:89,246,661C/T—likely benign
rs5986577116:89,246,670T/C—benign
rs12143454016:89,246,680C/Tmissense variantuncertain significance
rs14424892316:89,246,681G/T—uncertain significance
rs104500219416:89,246,683G/A—uncertain significance
rs55577958216:89,246,685C/G—likely benign
rs36912697816:89,246,686G/A—uncertain significance
rs74560323316:89,246,697C/T—likely benign
rs54346777216:89,246,730C/G—likely benign
rs215159928516:89,246,734C/A—uncertain significance
rs20122869516:89,246,740C/T—uncertain significance
rs11228248416:89,249,301T/Cintron variant—
rs76472024116:89,249,962G/C—uncertain significance
rs12143454116:89,249,963C/Tmissense variantpathogenic
rs94261740016:89,249,977C/G—uncertain significance
rs14730147916:89,249,985A/G—likely benign
rs77771557116:89,250,000C/T—likely benign
rs159730587316:89,250,002C/A—uncertain significance
rs77238732516:89,250,021A/G—likely benign
rs20010216616:89,250,043C/T—uncertain significance
rs75112029516:89,250,059A/G—uncertain significance
rs75592064716:89,250,070A/G—uncertain significance
rs36930297716:89,250,077G/T—uncertain significance
rs74598440716:89,250,079G/T—uncertain significance
rs191542502016:89,250,085G/C—uncertain significance
rs215160091516:89,251,598G/T—uncertain significance
rs101654495716:89,251,619G/A—uncertain significance
rs103740692816:89,251,621C/A—uncertain significance
rs97525395416:89,251,627G/T—likely benign
rs77806867316:89,251,628A/T—uncertain significance
rs74838408016:89,251,629C/G—uncertain significance
rs76812629116:89,251,641C/T—uncertain significance
rs13792386316:89,251,646C/T—conflicting classifications of pathogenicity
rs14108466816:89,251,676G/A—conflicting classifications of pathogenicity
rs172514679716:89,251,685A/T—uncertain significance
rs13887023716:89,251,691G/A—uncertain significance
rs14842454116:89,251,693C/T—benign
rs77939729316:89,251,694G/A—conflicting classifications of pathogenicity
rs191545831616:89,251,706G/C—uncertain significance
rs53199903116:89,251,711C/A—likely benign
rs37135185116:89,251,712C/T—uncertain significance
rs76634824316:89,251,719T/G—uncertain significance
rs101607835016:89,251,720G/A—likely benign
rs140552656216:89,251,736C/T—uncertain significance
rs7326400316:89,252,488C/G——
rs13835192416:89,253,842C/A—uncertain significance
rs58778030016:89,253,844C/T—uncertain significance
rs215160207216:89,253,856T/A—uncertain significance
rs14871804916:89,253,887C/T—likely benign
rs14264775016:89,253,891C/T—benign
rs15059932516:89,253,910C/T—conflicting classifications of pathogenicity
rs37306920116:89,253,915A/G—uncertain significance
rs75684515716:89,253,940A/T—likely benign
rs58778030116:89,253,955C/A—uncertain significance
rs58778030216:89,253,961A/G—uncertain significance
rs18839087116:89,253,972C/T—likely benign
rs77465005916:89,254,538G/A—likely benign
rs77603916316:89,254,543G/C—likely benign
rs122810728716:89,254,549G/T—likely benign
rs76468680916:89,254,553C/T—uncertain significance
rs20053314416:89,254,556C/G—uncertain significance
rs20007493416:89,254,587C/T—uncertain significance
rs78051852316:89,254,605G/A—likely benign
rs140934150116:89,254,635G/T—uncertain significance
rs20116199616:89,254,649C/T—uncertain significance
rs37493648216:89,254,650G/T—likely benign
rs75865697816:89,254,653C/G—likely benign
rs75907577116:89,254,674G/C—uncertain significance
rs254396533416:89,254,677T/G—uncertain significance
rs134848125116:89,254,685A/G—uncertain significance
rs7281936316:89,256,040A/Cintron variant—
rs54450203716:89,256,535C/T——
rs75636865316:89,256,676A/G—uncertain significance
rs20002674116:89,256,681G/A—conflicting classifications of pathogenicity

Showing 100 of 237 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.