TBX5

T-box transcription factor 5

Summary

This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene is closely linked to related family member T-box 3 (ulnar mammary syndrome) on human chromosome 12. The encoded protein may play a role in heart development and specification of limb identity. Mutations in this gene have been associated with Holt-Oram syndrome, a developmental disorder affecting the heart and upper limbs. Several transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

Known Variants524 total

rsidPosition (GRCh37)AllelesClassClinVar
rs14187547112:114,704,515G/Tintergenic variantuncertain significance
rs186872362312:114,791,789G/A—uncertain significance
rs88604898312:114,791,826C/T—uncertain significance
rs57686715012:114,791,891A/C—uncertain significance
rs19252714812:114,791,964C/A—benign
rs133293741712:114,791,993C/T—uncertain significance
rs53507253412:114,792,006A/C—benign
rs88604898412:114,792,141A/G—uncertain significance
rs14122372912:114,792,149A/G—benign
rs88604898512:114,792,226A/G—uncertain significance
rs648995612:114,792,236T/C—benign
rs89052582312:114,792,266G/A—uncertain significance
rs56610758112:114,792,377T/C—benign
rs88604898612:114,792,411A/G—uncertain significance
rs18436083812:114,792,428T/C—benign
rs88604898712:114,792,462T/G—uncertain significance
rs88604898812:114,792,481A/T—uncertain significance
rs88604898912:114,792,485G/A—uncertain significance
rs53730367212:114,792,501T/G—likely benign
rs14351187812:114,792,525G/A—benign
rs88604899012:114,792,531G/C—uncertain significance
rs88604899112:114,792,542C/A—uncertain significance
rs11741405712:114,792,598A/G—benign
rs88604899312:114,792,619C/T—uncertain significance
rs14834608912:114,792,620G/A—uncertain significance
rs75910730512:114,792,635A/G—uncertain significance
rs14053207612:114,792,664G/A—benign
rs11638207412:114,792,736C/T—benign
rs7805863312:114,792,774C/T—benign
rs88604899412:114,792,792G/C—uncertain significance
rs7679945512:114,792,813T/A—benign
rs56999182212:114,792,857C/T—benign
rs186879993512:114,792,898A/T—uncertain significance
rs1242666012:114,792,953A/G—benign
rs57190175512:114,793,031G/A—benign
rs88604899512:114,793,060G/A—uncertain significance
rs88604899612:114,793,190A/G—uncertain significance
rs2873076012:114,793,208T/C—uncertain significance
rs11205183112:114,793,216T/C—benign
rs88307912:114,793,240C/T3 prime UTR variantbenign
rs2873076112:114,793,260C/T—benign
rs1085032612:114,793,297T/C—benign
rs74570863312:114,793,333C/A—benign
rs20035483812:114,793,348C/T—uncertain significance
rs18678079012:114,793,349G/T—uncertain significance
rs254042439012:114,793,350C/T—uncertain significance
rs186883641412:114,793,356T/C—uncertain significance
rs159383585512:114,793,370A/G—likely benign
rs14733994212:114,793,371A/G—uncertain significance
rs254042443912:114,793,374C/T—uncertain significance
rs37492432512:114,793,375C/T—uncertain significance
rs76795587712:114,793,376G/A—likely benign
rs254042447612:114,793,387G/A—uncertain significance
rs147406872212:114,793,401G/T—likely benign
rs186884152812:114,793,406A/G—likely benign
rs75739995212:114,793,408T/C—uncertain significance
rs254042455612:114,793,410C/T—uncertain significance
rs55619704212:114,793,417C/T—conflicting classifications of pathogenicity
rs36903417612:114,793,418G/A—likely benign
rs186884318512:114,793,425G/A—uncertain significance
rs76864420312:114,793,443G/T—likely benign
rs101538264812:114,793,444G/A—uncertain significance
rs11796559612:114,793,445C/T—likely benign
rs13792870612:114,793,451G/A—likely benign
rs77255663412:114,793,452G/A—uncertain significance
rs254042468212:114,793,454G/A—likely benign
rs127950333812:114,793,464T/C—uncertain significance
rs254042470712:114,793,465G/A—uncertain significance
rs19972953212:114,793,469G/C—benign
rs147497246312:114,793,473G/A—uncertain significance
rs76475683512:114,793,481C/T—likely benign
rs37300708812:114,793,487C/G—likely benign
rs76544328312:114,793,498C/T—uncertain significance
rs75042320912:114,793,506T/G—uncertain significance
rs254042478912:114,793,508G/A—likely benign
rs75866381112:114,793,510C/A—uncertain significance
rs20115212812:114,793,513C/T—conflicting classifications of pathogenicity
rs57516286112:114,793,514G/A—likely benign
rs254042482312:114,793,518G/T—uncertain significance
rs97183124312:114,793,532C/T—uncertain significance
rs254042484112:114,793,533A/G—uncertain significance
rs124347756012:114,793,546G/C—uncertain significance
rs77279045812:114,793,551G/A—uncertain significance
rs254042488512:114,793,562G/T—uncertain significance
rs120354367212:114,793,572C/T—uncertain significance
rs254042489512:114,793,573C/T—uncertain significance
rs77068560212:114,793,575G/A—uncertain significance
rs55775885112:114,793,581C/T—likely benign
rs37218547912:114,793,589C/A—likely benign
rs123103440112:114,793,592G/A—likely benign
rs14947457412:114,793,598C/T—likely benign
rs129001131712:114,793,599G/A—uncertain significance
rs14397137612:114,793,601G/C—likely benign
rs139612445612:114,793,605A/G—conflicting classifications of pathogenicity
rs57761537312:114,793,612C/T—conflicting classifications of pathogenicity
rs648995712:114,793,613G/A—benign
rs75515224612:114,793,621G/T—uncertain significance
rs78098768812:114,793,624G/T—uncertain significance
rs75604933112:114,793,625G/C—pathogenic
rs186886538912:114,793,643G/A—likely benign

Showing 100 of 524 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.