CD3G

CD3 gamma subunit of T-cell receptor complex

Summary

The protein encoded by this gene is the CD3-gamma polypeptide, which together with CD3-epsilon, -delta and -zeta, and the T-cell receptor alpha/beta and gamma/delta heterodimers, forms the T-cell receptor-CD3 complex. This complex plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. The genes encoding the epsilon, gamma and delta polypeptides are located in the same cluster on chromosome 11. Defects in this gene are associated with T cell immunodeficiency. [provided by RefSeq, Jul 2008]

Known Variants121 total

rsidPosition (GRCh37)AllelesClassClinVar
rs14529363511:118,215,122G/T—uncertain significance
rs148335728611:118,215,149G/T—uncertain significance
rs119853426111:118,215,150G/A—likely benign
rs194833588411:118,215,151A/T—pathogenic
rs148125589611:118,215,154G/C—uncertain significance
rs20100695611:118,215,170T/C—uncertain significance
rs14399098611:118,215,171C/G—conflicting classifications of pathogenicity
rs18171328311:118,215,174G/A—likely benign
rs194833634811:118,215,175G/A—uncertain significance
rs143097956011:118,215,176C/T—uncertain significance
rs37726296611:118,215,178A/G—conflicting classifications of pathogenicity
rs194833650111:118,215,179T/A—uncertain significance
rs134288280711:118,215,201C/T—likely benign
rs249688408311:118,215,204A/G—likely benign
rs249688409811:118,215,205C/G—likely benign
rs122165816111:118,215,207A/G—likely benign
rs128949704911:118,215,208G/A—likely benign
rs76895794711:118,215,209G/A—likely benign
rs119153191011:118,215,212T/C—likely benign
rs20137012511:118,219,725C/A—likely benign
rs124824188611:118,219,737T/C—likely benign
rs14639331511:118,219,742G/A—conflicting classifications of pathogenicity
rs13978110411:118,219,750G/A—benign
rs213406829911:118,219,755G/A—likely benign
rs213406830511:118,219,757C/G—pathogenic
rs76828491911:118,219,758A/C—likely benign
rs194838195811:118,219,768A/G—uncertain significance
rs122630953011:118,219,769G/A—uncertain significance
rs11585109611:118,219,775A/G—conflicting classifications of pathogenicity
rs20180256711:118,219,810C/T—likely benign
rs20047690111:118,220,439A/G—likely benign
rs77149958411:118,220,440C/T—likely benign
rs141147975011:118,220,441G/A—likely benign
rs249689732711:118,220,448C/T—likely benign
rs249689746311:118,220,476T/C—uncertain significance
rs76502747711:118,220,479A/G—uncertain significance
rs194838850311:118,220,487C/T—pathogenic
rs76628728511:118,220,489A/G—likely benign
rs75142575811:118,220,492A/G—likely benign
rs20175267711:118,220,500C/T—uncertain significance
rs78056774111:118,220,501G/A—likely benign
rs141514758811:118,220,506T/C—uncertain significance
rs249689770511:118,220,514T/C—uncertain significance
rs14577839511:118,220,530A/G—uncertain significance
rs14291556911:118,220,536T/C—conflicting classifications of pathogenicity
rs213406967311:118,220,539C/T—uncertain significance
rs37705733611:118,220,540A/G—likely benign
rs194838935511:118,220,541T/A—uncertain significance
rs77225146411:118,220,546T/G—uncertain significance
rs155512137911:118,220,548A/C—uncertain significance
rs77537249211:118,220,552T/A—uncertain significance
rs213406969911:118,220,556A/T—pathogenic
rs75533449011:118,220,565G/A—conflicting classifications of pathogenicity
rs18079351811:118,220,567C/T—likely benign
rs76605340211:118,220,570C/T—likely benign
rs122067612611:118,220,571C/T—likely benign
rs76707046711:118,220,577G/A—uncertain significance
rs19967686111:118,220,583A/Tstop gainedpathogenic
rs116922057811:118,220,592T/A—uncertain significance
rs77751883911:118,220,597T/C—likely benign
rs132530653011:118,220,601G/A—uncertain significance
rs126798493211:118,220,609T/C—likely benign
rs20002825511:118,220,621T/C—conflicting classifications of pathogenicity
rs75876435811:118,220,623G/A—uncertain significance
rs121541265311:118,220,637T/C—uncertain significance
rs194839114811:118,220,649C/T—likely pathogenic
rs14105232111:118,220,651G/C—uncertain significance
rs249689875211:118,220,660A/G—likely benign
rs20179591511:118,220,672A/T—uncertain significance
rs194839176911:118,220,694T/A—likely benign
rs20196490511:118,220,698C/T—conflicting classifications of pathogenicity
rs131625143311:118,220,703G/A—likely benign
rs20040576711:118,221,254C/T—likely benign
rs213407059411:118,221,257T/G—likely benign
rs213407059611:118,221,258T/G—likely benign
rs20129680211:118,221,263A/G—conflicting classifications of pathogenicity
rs74747954711:118,221,285A/G—uncertain significance
rs75511357711:118,221,293G/A—uncertain significance
rs213407066211:118,221,297C/T—uncertain significance
rs78123976411:118,221,312T/C—uncertain significance
rs128688119111:118,221,323G/A—uncertain significance
rs77197161711:118,221,340C/T—likely benign
rs249690158711:118,221,345T/G—uncertain significance
rs375305911:118,221,349T/C—benign
rs375305811:118,221,350G/T—likely benign
rs213407078711:118,221,352T/C—likely benign
rs249690190711:118,221,368G/T—uncertain significance
rs159128502811:118,221,376G/A—likely benign
rs213407084211:118,221,390A/G—uncertain significance
rs91690863011:118,221,396G/C—uncertain significance
rs18774606811:118,221,409G/A—benign
rs20009344411:118,221,410C/T—conflicting classifications of pathogenicity
rs194841088411:118,222,361T/C—uncertain significance
rs194841092211:118,222,369A/C—uncertain significance
rs77280352911:118,222,370A/G—uncertain significance
rs249690835111:118,223,102T/A—likely benign
rs249690836911:118,223,106C/T—likely benign
rs156552300411:118,223,115C/G—likely benign
rs194841813911:118,223,118G/A—likely pathogenic
rs20062405311:118,223,119C/A—uncertain significance

Showing 100 of 121 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.