TBX6

T-box transcription factor 6

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. Knockout studies in mice indicate that this gene is important for specification of paraxial mesoderm structures. [provided by RefSeq, Aug 2008]

Known Variants198 total

rsidPosition (GRCh37)AllelesClassClinVar
rs58777711316:30,097,546T/Astop lostpathogenic
rs254365911916:30,097,548A/G—likely pathogenic
rs215103085716:30,097,556G/C—uncertain significance
rs120012131416:30,097,557G/A—uncertain significance
rs74620241516:30,097,560T/G—uncertain significance
rs77269855116:30,097,566C/T—uncertain significance
rs57791821416:30,097,579G/A—uncertain significance
rs76423350916:30,097,580C/A—uncertain significance
rs77699973916:30,097,581C/T—uncertain significance
rs76207375916:30,097,588C/T—likely benign
rs20193004816:30,097,589G/A—uncertain significance
rs56350441116:30,097,613C/A—uncertain significance
rs117742585216:30,097,614C/G—uncertain significance
rs228929216:30,097,630C/Tsynonymous variantpathogenic
rs74741058016:30,097,631G/A—uncertain significance
rs56107226516:30,097,645C/T—likely benign
rs14214321016:30,097,646G/A—uncertain significance
rs15122852316:30,097,648C/T—likely benign
rs105608872716:30,097,651T/C—likely benign
rs75226761216:30,097,654A/G—benign
rs75879858316:30,097,664T/G—uncertain significance
rs20118176816:30,097,666C/G—likely benign
rs78175605016:30,097,669G/A—likely benign
rs159684775916:30,097,673C/T—uncertain significance
rs87925385716:30,097,677——pathogenic
rs77351567916:30,097,683C/A—uncertain significance
rs76301797216:30,097,684G/A—likely benign
rs54310718316:30,097,693C/T—likely benign
rs101474287416:30,097,694T/G—uncertain significance
rs20114003116:30,097,708C/T—likely benign
rs36901535916:30,097,709G/T—pathogenic
rs254365982116:30,097,717G/A—likely benign
rs75692150216:30,097,724C/T—conflicting classifications of pathogenicity
rs75201176516:30,097,725G/A—uncertain significance
rs145617605316:30,097,726C/A—likely benign
rs139256576416:30,097,743C/T—uncertain significance
rs37755225316:30,097,744C/T—likely benign
rs74937339516:30,097,745G/A—uncertain significance
rs126475259116:30,097,753G/A—likely benign
rs77459701216:30,097,756G/C—uncertain significance
rs74570807316:30,097,759C/T—uncertain significance
rs159684810316:30,097,770G/A—likely benign
rs77607557116:30,097,779G/A—likely benign
rs94775529316:30,097,815G/T—likely benign
rs207263254516:30,097,834T/C—uncertain significance
rs55548628516:30,097,840G/A—uncertain significance
rs7936075916:30,097,868C/T—likely benign
rs20002316716:30,097,869G/A—uncertain significance
rs90167357016:30,097,874G/T—uncertain significance
rs77912671016:30,097,879G/A—likely benign
rs74604644016:30,097,882G/A—uncertain significance
rs207263371916:30,097,883G/A—likely benign
rs86662021016:30,097,890T/G—uncertain significance
rs76852046616:30,097,908C/T—uncertain significance
rs37765926016:30,097,910C/A—likely benign
rs76125338016:30,097,912G/C—uncertain significance
rs55300964516:30,097,915G/T—uncertain significance
rs124416468816:30,097,918C/T—uncertain significance
rs36871221816:30,097,919C/T—likely benign
rs14910512016:30,097,920G/A—likely benign
rs56731125216:30,097,922G/A—likely benign
rs207263478416:30,097,926G/T—uncertain significance
rs76611604016:30,097,927C/T—uncertain significance
rs215103123516:30,097,932G/T—uncertain significance
rs215103123716:30,097,933C/T—uncertain significance
rs54530147116:30,097,940G/A—likely benign
rs19976854916:30,097,947G/A—uncertain significance
rs145776684616:30,097,968T/C—uncertain significance
rs254366066816:30,097,969C/G—uncertain significance
rs74805333116:30,097,971C/A—uncertain significance
rs77291324616:30,097,972G/C—uncertain significance
rs135164260816:30,097,989G/A—uncertain significance
rs215103133116:30,097,994G/A—likely benign
rs159684875716:30,098,001G/A—uncertain significance
rs98751163116:30,098,013G/A—uncertain significance
rs132604403516:30,098,017C/T—uncertain significance
rs76232147316:30,098,018T/G—likely pathogenic
rs20031076816:30,098,022G/A—likely benign
rs76578608716:30,098,096C/T—uncertain significance
rs20064694816:30,098,102C/T—uncertain significance
rs15030671716:30,098,103G/A—benign
rs75174498616:30,098,109A/G—likely benign
rs75595082416:30,098,133T/C—likely benign
rs135836992416:30,098,137C/A—uncertain significance
rs53266709216:30,098,140C/T—uncertain significance
rs6173637016:30,098,145T/C—benign
rs74535524716:30,098,148C/T—likely benign
rs36881502216:30,098,163G/A—likely benign
rs20162062916:30,098,168G/Astop gainedpathogenic
rs207264252616:30,098,185G/C—likely benign
rs54885016016:30,098,192A/G—benign
rs76149278916:30,099,883G/A—likely benign
rs20123171316:30,099,890C/T—conflicting classifications of pathogenicity
rs254366471416:30,099,927G/C—uncertain significance
rs119327198816:30,099,936T/A—uncertain significance
rs75469531616:30,099,952C/T—likely benign
rs55847765516:30,099,956G/A—benign
rs13856103016:30,100,029G/C—likely benign
rs14066609816:30,100,038G/A—likely benign
rs215103251216:30,100,043T/A—uncertain significance

Showing 100 of 198 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.