TBX3 Chromosome 12
T-box transcription factor 3
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What This Gene Does
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]
Gene Info
Gene Group
T-box transcription factors
Locus Type
gene with protein product
Location
12q24.21
Ensembl
ENSG00000135111
Associated Conditions (3)
Ulnar-mammary syndrome
TBX3-related disorder
Inborn genetic diseases
Key Variants
RS117465019
Conflicting classifications of pathogenicity
Ulnar-mammary syndrome, TBX3-related disorder, Ulnar-mammary syndrome
Health Risk
RS139599654
Conflicting classifications of pathogenicity
Ulnar-mammary syndrome, TBX3-related disorder, Ulnar-mammary syndrome
Health Risk
RS147270297
Conflicting classifications of pathogenicity
Inborn genetic diseases, TBX3-related disorder, Inborn genetic diseases
Health Risk
RS200821102
Conflicting classifications of pathogenicity
Ulnar-mammary syndrome, TBX3-related disorder, Ulnar-mammary syndrome
Health Risk
RS369654422
Conflicting classifications of pathogenicity
Ulnar-mammary syndrome, Inborn genetic diseases, TBX3-related disorder
Health Risk
RS369999628
Conflicting classifications of pathogenicity
Ulnar-mammary syndrome, TBX3-related disorder, Ulnar-mammary syndrome
Health Risk
RS370307666
Conflicting classifications of pathogenicity
Ulnar-mammary syndrome, Ulnar-mammary syndrome
Health Risk
RS375076522
Conflicting classifications of pathogenicity
Ulnar-mammary syndrome, TBX3-related disorder, Ulnar-mammary syndrome
Health Risk
RS376189812
Conflicting classifications of pathogenicity
Ulnar-mammary syndrome, TBX3-related disorder, Ulnar-mammary syndrome
Health Risk
RS537957080
Conflicting classifications of pathogenicity
Ulnar-mammary syndrome, TBX3-related disorder, Inborn genetic diseases
Health Risk
RS57078153
Conflicting classifications of pathogenicity
Health Risk
RS753151479
Conflicting classifications of pathogenicity
Ulnar-mammary syndrome, TBX3-related disorder, Ulnar-mammary syndrome
Health Risk
All Variants (39)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS117465019 | Health Risk | Conflicting classifications of pathogenicity | Ulnar-mammary syndrome, TBX3-related disorder, Ulnar-mammary syndrome |
| RS139599654 | Health Risk | Conflicting classifications of pathogenicity | Ulnar-mammary syndrome, TBX3-related disorder, Ulnar-mammary syndrome |
| RS147270297 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, TBX3-related disorder, Inborn genetic diseases |
| RS200821102 | Health Risk | Conflicting classifications of pathogenicity | Ulnar-mammary syndrome, TBX3-related disorder, Ulnar-mammary syndrome |
| RS369654422 | Health Risk | Conflicting classifications of pathogenicity | Ulnar-mammary syndrome, Inborn genetic diseases, TBX3-related disorder |
| RS369999628 | Health Risk | Conflicting classifications of pathogenicity | Ulnar-mammary syndrome, TBX3-related disorder, Ulnar-mammary syndrome |
| RS370307666 | Health Risk | Conflicting classifications of pathogenicity | Ulnar-mammary syndrome, Ulnar-mammary syndrome |
| RS375076522 | Health Risk | Conflicting classifications of pathogenicity | Ulnar-mammary syndrome, TBX3-related disorder, Ulnar-mammary syndrome |
| RS376189812 | Health Risk | Conflicting classifications of pathogenicity | Ulnar-mammary syndrome, TBX3-related disorder, Ulnar-mammary syndrome |
| RS537957080 | Health Risk | Conflicting classifications of pathogenicity | Ulnar-mammary syndrome, TBX3-related disorder, Inborn genetic diseases |
| RS57078153 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS753151479 | Health Risk | Conflicting classifications of pathogenicity | Ulnar-mammary syndrome, TBX3-related disorder, Ulnar-mammary syndrome |
| RS754142951 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS763473739 | Health Risk | Conflicting classifications of pathogenicity | Ulnar-mammary syndrome, TBX3-related disorder, Inborn genetic diseases |
| RS1868624031 | Health Risk | Likely pathogenic | — |
| RS1868706209 | Health Risk | Likely pathogenic | Ulnar-mammary syndrome, Ulnar-mammary syndrome |
| RS1868908326 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2121153865 | Health Risk | Likely pathogenic | Ulnar-mammary syndrome, Ulnar-mammary syndrome |
| RS2121158390 | Health Risk | Likely pathogenic | Ulnar-mammary syndrome, Ulnar-mammary syndrome |
| RS2499783504 | Health Risk | Likely pathogenic | Ulnar-mammary syndrome, Ulnar-mammary syndrome |
| RS2499787857 | Health Risk | Likely pathogenic | Ulnar-mammary syndrome, Ulnar-mammary syndrome |
| RS2499790237 | Health Risk | Likely pathogenic | Ulnar-mammary syndrome, Ulnar-mammary syndrome |
| RS2499790308 | Health Risk | Likely pathogenic | Ulnar-mammary syndrome, Ulnar-mammary syndrome |
| RS2499799012 | Health Risk | Likely pathogenic | Ulnar-mammary syndrome, Ulnar-mammary syndrome |
| RS927204453 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS104894376 | Health Risk | Pathogenic | Ulnar-mammary syndrome, Ulnar-mammary syndrome |
| RS1060505020 | Health Risk | Pathogenic | Ulnar-mammary syndrome, Inborn genetic diseases, Ulnar-mammary syndrome |
| RS1237767989 | Health Risk | Pathogenic | Ulnar-mammary syndrome, Ulnar-mammary syndrome |
| RS1457604010 | Health Risk | Pathogenic | TBX3-related disorder, TBX3-related disorder |
| RS1565858163 | Health Risk | Pathogenic | Ulnar-mammary syndrome, Ulnar-mammary syndrome |
| RS1592851007 | Health Risk | Pathogenic | Ulnar-mammary syndrome, Ulnar-mammary syndrome |
| RS1592851924 | Health Risk | Pathogenic | Ulnar-mammary syndrome, Ulnar-mammary syndrome |
| RS1592852070 | Health Risk | Pathogenic | Ulnar-mammary syndrome, Ulnar-mammary syndrome |
| RS2499786519 | Health Risk | Pathogenic | Ulnar-mammary syndrome, Ulnar-mammary syndrome |
| RS2499787378 | Health Risk | Pathogenic | Ulnar-mammary syndrome, Ulnar-mammary syndrome |
| RS2499793907 | Health Risk | Pathogenic | Ulnar-mammary syndrome, Ulnar-mammary syndrome |
| RS2499797082 | Health Risk | Pathogenic | Ulnar-mammary syndrome, Ulnar-mammary syndrome |
| RS397514484 | Health Risk | Pathogenic | Ulnar-mammary syndrome, Ulnar-mammary syndrome |
| RS779733514 | Health Risk | Pathogenic | Ulnar-mammary syndrome, Ulnar-mammary syndrome |