CD3D

CD3 delta subunit of T-cell receptor complex

Summary

The protein encoded by this gene is part of the T-cell receptor/CD3 complex (TCR/CD3 complex) and is involved in T-cell development and signal transduction. The encoded membrane protein represents the delta subunit of the CD3 complex, and along with four other CD3 subunits, binds either TCR alpha/beta or TCR gamma/delta to form the TCR/CD3 complex on the surface of T-cells. Defects in this gene are a cause of severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-positive (SCIDBNK). Two transcript variants encoding different isoforms have been found for this gene. Other variants may also exist, but the full-length natures of their transcripts has yet to be defined. [provided by RefSeq, Feb 2009]

Known Variants174 total

rsidPosition (GRCh37)AllelesClassClinVar
rs11327146211:118,209,818G/A—benign
rs14699723311:118,209,883G/A—conflicting classifications of pathogenicity
rs20010824311:118,209,887C/T—uncertain significance
rs36780043211:118,209,888G/A—uncertain significance
rs213405851711:118,209,902C/G—uncertain significance
rs135357215711:118,209,907G/A—likely benign
rs124686742711:118,209,908T/A—uncertain significance
rs249686767611:118,209,913G/A—likely benign
rs56729935911:118,209,916C/T—likely benign
rs194827631011:118,209,928T/G—likely benign
rs77772109811:118,209,930G/A—uncertain significance
rs249686779211:118,209,932T/C—uncertain significance
rs37544419211:118,209,935C/T—uncertain significance
rs20199447611:118,209,936G/C—uncertain significance
rs137797209811:118,209,938A/G—uncertain significance
rs74579491511:118,209,940G/A—likely benign
rs249686785111:118,209,949G/C—likely benign
rs249686785611:118,209,950A/G—likely benign
rs76823468411:118,209,951G/A—likely benign
rs138531354811:118,209,954G/A—likely benign
rs213405862111:118,209,957G/A—likely benign
rs227642411:118,209,960A/G—likely benign
rs227642311:118,210,106C/G—benign
rs77954589711:118,210,147C/T—likely benign
rs249686869211:118,210,148C/T—likely benign
rs76832268511:118,210,152C/A—likely benign
rs76837880311:118,210,158A/G—likely benign
rs20181035611:118,210,159C/A—conflicting classifications of pathogenicity
rs19392261711:118,210,160G/A—uncertain significance
rs76356547111:118,210,172G/C—likely benign
rs4551020111:118,210,176T/C—uncertain significance
rs117039696611:118,210,181A/T—uncertain significance
rs194827959711:118,210,186T/G—likely benign
rs20112660511:118,210,198G/T—uncertain significance
rs52758479611:118,210,200G/A—uncertain significance
rs54734458011:118,210,204C/T—uncertain significance
rs20052063811:118,210,205G/A—likely benign
rs249686931811:118,210,209G/C—uncertain significance
rs213405888511:118,210,210C/T—likely pathogenic
rs134116525911:118,210,211T/C—likely pathogenic
rs121481999911:118,210,216G/A—likely benign
rs74693157611:118,210,219C/T—likely benign
rs194828016711:118,210,222G/C—likely benign
rs213405890311:118,210,224G/A—likely benign
rs56115212111:118,210,226G/A—likely benign
rs249686937411:118,210,227A/G—likely benign
rs2860658011:118,210,472C/T—benign
rs88710377211:118,210,476G/A—likely benign
rs249687043311:118,210,478T/C—likely benign
rs249687044311:118,210,483C/T—likely benign
rs20152768911:118,210,485C/T—uncertain significance
rs249687046111:118,210,489C/A—likely pathogenic
rs104146030511:118,210,492C/T—uncertain significance
rs194828362311:118,210,493C/T—uncertain significance
rs121690870711:118,210,497C/G—likely benign
rs213405929311:118,210,500C/T—likely benign
rs159127781211:118,210,506A/G—likely benign
rs20013204511:118,210,510T/C—uncertain significance
rs249687053211:118,210,512A/G—likely benign
rs213405931811:118,210,513T/A—uncertain significance
rs53453074311:118,210,514G/T—uncertain significance
rs131523746311:118,210,515T/G—likely benign
rs123731898611:118,210,518A/G—likely benign
rs55413850411:118,210,523A/G—uncertain significance
rs15057095511:118,210,536C/T—likely benign
rs194828428011:118,210,540G/A—uncertain significance
rs146022342911:118,210,545G/A—likely benign
rs249687064611:118,210,550G/A—likely benign
rs194828444711:118,210,552G/T—uncertain significance
rs76202303011:118,210,553T/A—uncertain significance
rs20172180711:118,210,554G/A—likely benign
rs57421308511:118,210,569G/A—likely benign
rs99699866511:118,210,579C/T—uncertain significance
rs77738632211:118,210,587G/A—likely benign
rs249687082411:118,210,593T/C—likely benign
rs249687083011:118,210,596A/G—likely benign
rs194828505211:118,210,611G/T—uncertain significance
rs11103358111:118,210,617G/Tstop gainedpathogenic
rs213405942411:118,210,618C/T—uncertain significance
rs20126681111:118,210,621A/G—uncertain significance
rs18869777811:118,210,626G/A—likely benign
rs20215618311:118,210,630G/A—likely benign
rs194828526911:118,210,634G/A—likely benign
rs20023828611:118,210,639A/G—benign
rs249687099311:118,210,640G/A—likely benign
rs54278445611:118,211,070A/C—likely benign
rs249687189111:118,211,072G/T—likely benign
rs76375486211:118,211,074T/C—likely benign
rs75333256511:118,211,075T/C—likely benign
rs120930004311:118,211,082G/A—likely benign
rs73088029611:118,211,085C/Tsplice region variantpathogenic
rs20129942011:118,211,086G/A—uncertain significance
rs126222788711:118,211,088A/G—likely pathogenic
rs117209867311:118,211,093G/A—pathogenic
rs20026008711:118,211,102C/T—uncertain significance
rs57231571711:118,211,108C/T—uncertain significance
rs20091027311:118,211,109G/A—likely benign
rs249687208911:118,211,116T/C—uncertain significance
rs20188974211:118,211,117C/T—uncertain significance
rs155511977311:118,211,120T/C—uncertain significance

Showing 100 of 174 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.