TBX3

T-box transcription factor 3

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 protein is a transcriptional repressor and is thought to play a role in the anterior/posterior axis of the tetrapod forelimb. Mutations in this gene cause ulnar-mammary syndrome, affecting limb, apocrine gland, tooth, hair, and genital development. Alternative splicing of this gene results in three transcript variants encoding different isoforms; however, the full length nature of one variant has not been determined. [provided by RefSeq, Jul 2008]

Known Variants404 total

rsidPosition (GRCh37)AllelesClassClinVar
rs78139412212:115,108,090A/C—uncertain significance
rs106165712:115,108,136T/C—benign
rs88604900312:115,108,264C/G—uncertain significance
rs103184966112:115,108,269G/A—uncertain significance
rs6193312112:115,108,306C/T—benign
rs7741268712:115,108,334A/G—benign
rs106165112:115,108,361T/Cregulatory region variantbenign
rs14648030512:115,108,382G/C—benign
rs14104594712:115,108,422A/G—benign
rs54488789212:115,108,459C/T—uncertain significance
rs88604900412:115,108,465C/T—uncertain significance
rs76321794812:115,108,572T/C—uncertain significance
rs186839178512:115,108,756T/C—uncertain significance
rs102915426112:115,108,851T/C—uncertain significance
rs374169512:115,108,899T/C—benign
rs885312:115,108,907T/Cregulatory region variantbenign
rs88604900512:115,108,931G/C—uncertain significance
rs374169712:115,109,075G/C—benign
rs88604900612:115,109,117C/T—uncertain significance
rs78005611212:115,109,144T/C—uncertain significance
rs74689609012:115,109,175A/C—uncertain significance
rs374169812:115,109,223C/G—benign
rs139000157612:115,109,239A/G—uncertain significance
rs374169912:115,109,249T/G—benign
rs134257545112:115,109,269T/C—uncertain significance
rs18405866012:115,109,280T/A—benign
rs7797171312:115,109,401G/A—likely benign
rs147355232812:115,109,502C/T—uncertain significance
rs7956433612:115,109,514C/T—benign
rs143506467512:115,109,562G/A—uncertain significance
rs93755115712:115,109,564G/A—uncertain significance
rs56713817912:115,109,589A/G—likely benign
rs76797736912:115,109,600G/T—uncertain significance
rs14135092612:115,109,621A/T—benign
rs88604900812:115,109,631G/C—uncertain significance
rs88604900912:115,109,632T/C—uncertain significance
rs15028618412:115,109,634T/A—likely benign
rs37754013012:115,109,645T/G—likely benign
rs13801005912:115,109,657C/G—uncertain significance
rs78135985512:115,109,658G/A—likely benign
rs77023083612:115,109,663G/T—uncertain significance
rs212137447812:115,109,672C/T—uncertain significance
rs14260903812:115,109,673C/A—benign
rs77193440312:115,109,704T/C—uncertain significance
rs144503284512:115,109,722C/T—uncertain significance
rs77507961812:115,109,725G/T—uncertain significance
rs96546287912:115,109,730C/T—likely benign
rs36953820512:115,109,731G/A—uncertain significance
rs3483181712:115,109,736T/C—likely benign
rs76065743812:115,109,742C/T—likely benign
rs138087574112:115,109,749A/G—uncertain significance
rs249978309012:115,109,750G/C—uncertain significance
rs75792457612:115,109,757C/T—likely benign
rs132739286512:115,109,758G/A—uncertain significance
rs54095627912:115,109,772G/A—likely benign
rs19957254412:115,109,773C/T—uncertain significance
rs104317073912:115,109,781G/C—likely benign
rs37626707912:115,109,800T/C—uncertain significance
rs13959965412:115,109,814C/T—conflicting classifications of pathogenicity
rs186845652812:115,109,815G/A—uncertain significance
rs212137557412:115,109,817G/T—uncertain significance
rs77254205912:115,109,818T/C—uncertain significance
rs76272642512:115,109,822C/T—uncertain significance
rs212137565312:115,109,823T/C—likely benign
rs249978333212:115,109,842G/T—uncertain significance
rs37030766612:115,109,844G/A—conflicting classifications of pathogenicity
rs75764016112:115,109,847C/T—likely benign
rs136118442512:115,109,849G/C—uncertain significance
rs77906234712:115,109,853G/A—likely benign
rs141625474512:115,109,860T/G—uncertain significance
rs136786037512:115,109,864C/T—uncertain significance
rs74684679212:115,109,871G/T—likely benign
rs146583823712:115,109,873G/A—uncertain significance
rs249978345112:115,109,874C/T—likely benign
rs74809841812:115,109,878G/T—uncertain significance
rs94043657012:115,109,881G/A—uncertain significance
rs123509568712:115,109,884G/A—uncertain significance
rs76234287212:115,109,887G/A—uncertain significance
rs77401446312:115,109,895G/A—likely benign
rs19971901412:115,109,906T/C—uncertain significance
rs186846696212:115,109,909T/C—uncertain significance
rs92025247612:115,109,910G/A—likely benign
rs20056900612:115,109,919G/A—benign
rs75414295112:115,109,924C/T—conflicting classifications of pathogenicity
rs76565705512:115,109,928C/T—likely benign
rs126010580212:115,109,943G/C—uncertain significance
rs103015349812:115,109,959T/C—uncertain significance
rs135279177612:115,109,960A/G—uncertain significance
rs78119355112:115,109,975G/C—uncertain significance
rs104018392112:115,109,982G/C—uncertain significance
rs76981487712:115,109,987G/T—likely benign
rs144589856412:115,109,989T/C—uncertain significance
rs77755268312:115,109,991G/A—likely benign
rs119462705312:115,109,997G/A—likely benign
rs95463473112:115,110,000G/T—uncertain significance
rs77045974812:115,110,003G/A—likely benign
rs75920220412:115,110,007T/C—uncertain significance
rs52871978712:115,110,018G/A—likely benign
rs76205279812:115,110,021G/A—likely benign
rs119129742212:115,110,023C/T—uncertain significance

Showing 100 of 404 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.