CDH3

cadherin 3

Summary

This gene encodes a classical cadherin of the cadherin superfamily. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature glycoprotein. This calcium-dependent cell-cell adhesion protein is comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. This gene is located in a gene cluster in a region on the long arm of chromosome 16 that is involved in loss of heterozygosity events in breast and prostate cancer. In addition, aberrant expression of this protein is observed in cervical adenocarcinomas. Mutations in this gene are associated with hypotrichosis with juvenile macular dystrophy and ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome (EEMS). [provided by RefSeq, Nov 2015]

Known Variants680 total

rsidPosition (GRCh37)AllelesClassClinVar
rs76887245516:68,678,198A/G—uncertain significance
rs15112315916:68,678,300A/G—uncertain significance
rs15024785016:68,678,604T/C—uncertain significance
rs79618737516:68,678,655G/A—uncertain significance
rs88605222516:68,678,662G/A—uncertain significance
rs1164443516:68,678,746A/G—benign
rs7467435116:68,678,884G/C—likely benign
rs14568704916:68,678,981C/T—uncertain significance
rs88605222616:68,679,001G/T—uncertain significance
rs18296977216:68,679,016C/T—uncertain significance
rs55020344416:68,679,090G/T—uncertain significance
rs53733940916:68,679,142C/G—uncertain significance
rs88605222716:68,679,143G/T—uncertain significance
rs55766047716:68,679,211T/C—uncertain significance
rs37335141016:68,679,247C/T—uncertain significance
rs37089387216:68,679,272T/C—uncertain significance
rs123810910016:68,679,285G/A—likely pathogenic
rs254367043716:68,679,286G/C—uncertain significance
rs76745521016:68,679,288G/A—likely benign
rs145825344916:68,679,295C/T—uncertain significance
rs75491274916:68,679,296G/A—uncertain significance
rs196002005816:68,679,315C/T—likely benign
rs37397467116:68,679,316C/T—uncertain significance
rs254367061016:68,679,326A/G—uncertain significance
rs56264518116:68,679,333C/T—uncertain significance
rs37625771716:68,679,335A/C—likely benign
rs142322139916:68,679,336C/T—likely benign
rs74660541516:68,679,339C/G—likely benign
rs37107896716:68,679,340C/G—likely benign
rs77034944616:68,679,346G/A—likely benign
rs56427834316:68,679,406C/A—likely benign
rs133922268316:68,679,521C/T—likely benign
rs121493075216:68,679,523C/T—likely benign
rs119132244816:68,679,528C/T—conflicting classifications of pathogenicity
rs78088934716:68,679,530C/A—uncertain significance
rs137085097316:68,679,534C/T—likely benign
rs215208745116:68,679,537A/G—likely pathogenic
rs215208745216:68,679,538G/C—likely pathogenic
rs139638490816:68,679,545T/C—uncertain significance
rs145971592316:68,679,548C/T—likely benign
rs196003302916:68,679,552A/G—uncertain significance
rs129351826116:68,679,558C/A—uncertain significance
rs133337015116:68,679,570C/T—uncertain significance
rs99239993916:68,679,571G/T—likely benign
rs148595418716:68,679,577G/A—likely benign
rs74975499116:68,679,593G/A—uncertain significance
rs155550389416:68,679,594C/T—uncertain significance
rs147419878116:68,679,595T/C—likely benign
rs254367184516:68,679,596G/A—uncertain significance
rs88697271016:68,679,601G/A—likely benign
rs37462774116:68,679,602A/T—conflicting classifications of pathogenicity
rs19961093716:68,679,604C/T—likely benign
rs74970326516:68,679,612C/A—uncertain significance
rs104098253416:68,679,618G/A—uncertain significance
rs215208750816:68,679,632C/A—uncertain significance
rs7461965816:68,679,634C/G—benign
rs121747449016:68,679,635G/C—uncertain significance
rs132675756416:68,679,639A/G—uncertain significance
rs254367216316:68,679,651A/G—uncertain significance
rs147418167916:68,679,654G/A—pathogenic
rs102902246816:68,679,664C/T—likely benign
rs223639316:68,679,770G/A—benign
rs56467229516:68,685,128G/Acoding sequence variant—
rs1292306916:68,688,677A/Gupstream gene variant—
rs311823416:68,702,077G/Aregulatory region variant—
rs311822916:68,710,165T/C—benign
rs13942776916:68,710,265C/T—likely benign
rs14499888716:68,710,280C/A—likely benign
rs75565073516:68,710,289A/G—likely benign
rs88605222816:68,710,293A/G—uncertain significance
rs75332314416:68,710,300G/A—uncertain significance
rs19194563116:68,710,305G/C—uncertain significance
rs98896061016:68,710,317G/T—uncertain significance
rs145796619816:68,710,318C/T—uncertain significance
rs53825585616:68,710,341G/A—uncertain significance
rs74718234316:68,710,349T/C—likely benign
rs54661006116:68,710,353C/T—uncertain significance
rs37486550616:68,710,354G/A—uncertain significance
rs75968103616:68,710,357A/G—uncertain significance
rs20145684416:68,710,360G/T—uncertain significance
rs20112254116:68,710,361C/T—likely benign
rs19392105416:68,710,362G/A—uncertain significance
rs117065471216:68,710,370C/G—likely benign
rs37605180016:68,710,379A/T—uncertain significance
rs76036942116:68,710,382C/T—likely benign
rs132893885116:68,710,383C/G—likely benign
rs75445426516:68,710,390A/G—likely benign
rs11585275916:68,710,423A/G—likely benign
rs195204816:68,711,999A/G—benign
rs76044954716:68,712,024T/C—likely benign
rs128655493416:68,712,035A/C—likely pathogenic
rs99062969316:68,712,039A/G—likely benign
rs131583458916:68,712,061A/T—uncertain significance
rs215209981816:68,712,066A/C—likely benign
rs75212963716:68,712,067T/C—likely benign
rs137590615716:68,712,073A/G—uncertain significance
rs14909385316:68,712,075C/A—likely benign
rs37354597616:68,712,082T/C—uncertain significance
rs130554477116:68,712,084C/A—likely benign
rs141749996216:68,712,086A/G—likely benign

Showing 100 of 680 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.