TBX1

T-box transcription factor 1

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 product shares 98% amino acid sequence identity with the mouse ortholog. DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS), a common congenital disorder characterized by neural-crest-related developmental defects, has been associated with deletions of chromosome 22q11.2, where this gene has been mapped. Studies using mouse models of DiGeorge syndrome suggest a major role for this gene in the molecular etiology of DGS/VCFS. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

Known Variants695 total

rsidPosition (GRCh37)AllelesClassClinVar
rs4126084422:19,743,424T/C—benign
rs4129862922:19,743,473T/C—benign
rs11394530722:19,743,585T/G—likely benign
rs73786722:19,746,903T/A—benign
rs7264694822:19,747,033C/G—benign
rs4129945722:19,747,042C/T—benign
rs73786822:19,747,082G/C—benign
rs7264695022:19,747,128C/T—likely benign
rs160127992322:19,747,151A/C—uncertain significance
rs4129878622:19,747,164G/A—likely benign
rs135922561222:19,747,180C/T—uncertain significance
rs76449746722:19,747,181C/A—conflicting classifications of pathogenicity
rs214582461822:19,747,184C/G—likely benign
rs251783785922:19,747,192A/T—uncertain significance
rs193657824722:19,747,194A/G—uncertain significance
rs160128001822:19,747,202T/A—likely pathogenic
rs155589511522:19,747,205G/A—uncertain significance
rs126377373122:19,747,206C/T—uncertain significance
rs75043914922:19,747,212G/A—likely benign
rs37191843922:19,747,217T/A—likely benign
rs251783794522:19,747,218G/C—likely benign
rs1215892722:19,747,485G/C—benign
rs4129879022:19,747,486G/T—likely benign
rs4129879222:19,747,487G/A—likely benign
rs7264695122:19,748,312G/C—benign
rs138069784622:19,748,387C/T—likely benign
rs156901802922:19,748,408G/T—uncertain significance
rs119634464622:19,748,411T/C—likely benign
rs251784114522:19,748,415T/C—likely benign
rs214582746022:19,748,417C/T—likely benign
rs160128269022:19,748,421G/C—likely benign
rs125254441622:19,748,427G/A—likely pathogenic
rs123801109622:19,748,434C/A—uncertain significance
rs148285702322:19,748,435G/C—likely benign
rs96514324222:19,748,436G/A—uncertain significance
rs124180745122:19,748,439A/T—uncertain significance
rs120364034622:19,748,442A/G—uncertain significance
rs251784130422:19,748,444C/G—uncertain significance
rs251784132422:19,748,448A/C—uncertain significance
rs251784133022:19,748,449G/T—uncertain significance
rs251784133622:19,748,451A/G—uncertain significance
rs74699300522:19,748,453C/G—uncertain significance
rs77075464922:19,748,456G/T—likely benign
rs193663529622:19,748,458G/T—uncertain significance
rs122534236422:19,748,459G/T—likely benign
rs130712225222:19,748,460G/A—uncertain significance
rs141568752522:19,748,461C/T—uncertain significance
rs93142949222:19,748,462C/T—likely benign
rs135911994122:19,748,463G/T—uncertain significance
rs251784139922:19,748,464C/T—uncertain significance
rs193663593622:19,748,466G/A—uncertain significance
rs133586206722:19,748,467G/C—uncertain significance
rs7264695222:19,748,468G/A—likely benign
rs133392075122:19,748,470G/A—uncertain significance
rs155589539122:19,748,471C/G—likely benign
rs137820381722:19,748,474C/T—likely benign
rs214582763422:19,748,475C/A—uncertain significance
rs251784147522:19,748,476C/T—uncertain significance
rs90877855322:19,748,479G/A—uncertain significance
rs146201457822:19,748,480C/T—likely benign
rs146109956022:19,748,481G/A—uncertain significance
rs94006505322:19,748,483C/T—likely benign
rs74536969422:19,748,485C/T—uncertain significance
rs193663722522:19,748,487T/C—uncertain significance
rs214582769722:19,748,490C/T—uncertain significance
rs251784157222:19,748,492C/G—likely benign
rs193663739222:19,748,493G/T—uncertain significance
rs138372080822:19,748,498C/G—likely benign
rs193663768522:19,748,500A/C—uncertain significance
rs116903725422:19,748,503C/T—uncertain significance
rs166177989822:19,748,504G/A—likely benign
rs118340067422:19,748,507C/T—likely benign
rs193663795122:19,748,509G/T—uncertain significance
rs193663815522:19,748,511C/G—uncertain significance
rs251784173622:19,748,518A/C—uncertain significance
rs214582778822:19,748,519G/A—likely benign
rs104442371922:19,748,520C/A—uncertain significance
rs193663876722:19,748,522C/T—likely benign
rs193663893122:19,748,523C/T—uncertain significance
rs140307177122:19,748,524C/T—uncertain significance
rs146445540322:19,748,530C/T—uncertain significance
rs193663992722:19,748,532C/T—uncertain significance
rs133110461822:19,748,536C/G—uncertain significance
rs186855290222:19,748,537G/A—likely benign
rs251784185322:19,748,539G/A—uncertain significance
rs251784188122:19,748,546C/G—uncertain significance
rs193664028722:19,748,548C/T—uncertain significance
rs142232299122:19,748,549G/T—likely benign
rs116327580422:19,748,551G/A—uncertain significance
rs214582791722:19,748,552C/A—pathogenic
rs251784195622:19,748,553G/T—uncertain significance
rs118034455022:19,748,555C/G—likely benign
rs251784197422:19,748,556G/C—uncertain significance
rs193664115822:19,748,561C/G—likely benign
rs89236129122:19,748,562G/T—uncertain significance
rs138391420422:19,748,563C/T—uncertain significance
rs139803144522:19,748,564C/T—likely benign
rs193664175622:19,748,566C/T—uncertain significance
rs131080213522:19,748,567C/G—likely benign
rs214582799922:19,748,568G/A—uncertain significance

Showing 100 of 695 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.