CDH1

cadherin 1

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. Mutations in this gene are correlated with gastric, breast, colorectal, thyroid and ovarian cancer. Loss of function of this gene is thought to contribute to cancer progression by increasing proliferation, invasion, and/or metastasis. The ectodomain of this protein mediates bacterial adhesion to mammalian cells and the cytoplasmic domain is required for internalization. This gene is present in a gene cluster with other members of the cadherin family on chromosome 16. [provided by RefSeq, Nov 2015]

Known Variants2,668 total

rsidPosition (GRCh37)AllelesClassClinVar
rs11161305016:68,756,400C/G—benign
rs719435516:68,770,288C/G——
rs503062516:68,770,847———
rs3395334416:68,770,866C/A—benign
rs119452835116:68,771,025A/G—benign
rs1626016:68,771,034C/Aregulatory region variantbenign
rs3414958116:68,771,043T/C—benign
rs2837278316:68,771,122A/Cregulatory region variantlikely benign
rs37426806116:68,771,235G/A—likely benign
rs196241809816:68,771,247T/C—uncertain significance
rs3403377116:68,771,248C/G—benign
rs57227286416:68,771,256C/A—pathogenic
rs98179219416:68,771,262C/T—likely benign
rs503087416:68,771,265G/C—likely benign
rs87666096916:68,771,269C/G—uncertain significance
rs56435006016:68,771,270G/T—likely benign
rs106479616016:68,771,272C/T—likely benign
rs106479513316:68,771,274C/T—uncertain significance
rs88604115916:68,771,275G/A—uncertain significance
rs73088165816:68,771,278C/A—conflicting classifications of pathogenicity
rs105752091016:68,771,279G/A—likely benign
rs77853863516:68,771,280C/T—likely benign
rs105752082616:68,771,282C/A—likely benign
rs87666119116:68,771,283C/T—uncertain significance
rs134357233816:68,771,286G/T—likely benign
rs104859501916:68,771,287C/G—likely benign
rs105752184316:68,771,290C/G—conflicting classifications of pathogenicity
rs73088164316:68,771,293C/T—likely benign
rs73088164416:68,771,295C/G—likely benign
rs73088165916:68,771,297C/A—likely benign
rs90108619616:68,771,298G/C—likely benign
rs196242147316:68,771,299C/T—conflicting classifications of pathogenicity
rs58778011116:68,771,301C/T—conflicting classifications of pathogenicity
rs146858095416:68,771,302G/C—uncertain significance
rs156747069216:68,771,304C/G—uncertain significance
rs196242185116:68,771,308C/T—uncertain significance
rs196242192816:68,771,309C/G—uncertain significance
rs58778237616:68,771,310C/T—likely benign
rs87944970316:68,771,311G/C—conflicting classifications of pathogenicity
rs215211393516:68,771,312G/A—uncertain significance
rs106479491016:68,771,313C/T—conflicting classifications of pathogenicity
rs156747070716:68,771,317C/T—conflicting classifications of pathogenicity
rs215211394316:68,771,318C/G—uncertain significance
rs155550962216:68,771,319A/G—pathogenic
rs155550962316:68,771,320T/C—pathogenic
rs87885469116:68,771,321G/Amissense variantpathogenic
rs78620121216:68,771,322G/C—uncertain significance
rs87885469216:68,771,323G/T—uncertain significance
rs78620128316:68,771,324C/T—likely benign
rs106479307916:68,771,325C/T—uncertain significance
rs58778248416:68,771,326C/G—likely benign
rs93507025916:68,771,327T/C—likely benign
rs254381404616:68,771,328T/G—uncertain significance
rs196242334616:68,771,329G/A—pathogenic
rs155550963616:68,771,330G/A—pathogenic
rs155550963716:68,771,331A/G—uncertain significance
rs99813828416:68,771,332G/A—uncertain significance
rs78620128716:68,771,333C/G—uncertain significance
rs215211395816:68,771,334C/A—uncertain significance
rs74646454416:68,771,335G/T—uncertain significance
rs78620130016:68,771,336C/A—likely benign
rs130355065216:68,771,337A/G—uncertain significance
rs131093419816:68,771,338G/C—uncertain significance
rs155550964016:68,771,339C/A—uncertain significance
rs123413876116:68,771,340C/G—conflicting classifications of pathogenicity
rs105752129616:68,771,342C/T—likely benign
rs155550964516:68,771,343T/G—uncertain significance
rs155550964616:68,771,344C/A—pathogenic
rs78620125716:68,771,345G/A—conflicting classifications of pathogenicity
rs105357248816:68,771,346G/A—conflicting classifications of pathogenicity
rs137536085716:68,771,347C/T—uncertain significance
rs120352533916:68,771,348G/T—likely benign
rs215211397316:68,771,349C/G—uncertain significance
rs139390396616:68,771,350T/G—uncertain significance
rs73088165416:68,771,351G/C—likely benign
rs78169687816:68,771,352C/T—likely benign
rs119124931816:68,771,353T/C—uncertain significance
rs215211397816:68,771,356T/C—uncertain significance
rs145206145816:68,771,357G/T—likely benign
rs78620152916:68,771,360G/A—likely benign
rs37061416216:68,771,362T/A—uncertain significance
rs74633143816:68,771,363G/T—conflicting classifications of pathogenicity
rs77024420316:68,771,364C/T—pathogenic
rs77570560716:68,771,365A/T—uncertain significance
rs74959191016:68,771,366G/Cmissense variantpathogenic
rs144028037016:68,771,367G/A—pathogenic
rs77442709416:68,771,370C/T—likely benign
rs7731218016:68,771,371C/A—uncertain significance
rs374367416:68,771,372C/T—benign
rs58778238016:68,771,373C/T—likely benign
rs132272621216:68,771,374G/T—likely benign
rs105752098616:68,771,376A/G—likely benign
rs122180190216:68,771,378C/A—likely benign
rs105752055516:68,771,379C/T—likely benign
rs76513456916:68,771,380C/T—likely benign
rs146670284416:68,771,381C/G—likely benign
rs58778238916:68,771,382T/C—likely benign
rs124856010116:68,771,383G/A—likely benign
rs141377590816:68,771,385C/T—likely benign
rs133231488716:68,771,407C/T—uncertain significance

Showing 100 of 2,668 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.