TBX19 Chromosome 1
T-box transcription factor 19
Upload your DNA to see your personal genotypes for variants in TBX19.
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. Mutations in this gene were found in patients with isolated deficiency of pituitary POMC-derived ACTH, suggesting an essential role for this gene in differentiation of the pituitary POMC lineage. ACTH deficiency is characterized by adrenal insufficiency symptoms such as weight loss, lack of appetite (anorexia), weakness, nausea, vomiting, and low blood pressure. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
T-box transcription factors
Locus Type
gene with protein product
Location
1q24.2
Ensembl
ENSG00000143178
Associated Conditions (4)
Congenital isolated adrenocorticotropic hormone deficiency
TBX19-related disorder
Inborn genetic diseases
See cases
Key Variants
RS143377172
Conflicting classifications of pathogenicity
Congenital isolated adrenocorticotropic hormone deficiency, Congenital isolated adrenocorticotropic hormone deficiency
Health Risk
RS143801899
Conflicting classifications of pathogenicity
Congenital isolated adrenocorticotropic hormone deficiency, Congenital isolated adrenocorticotropic hormone deficiency
Health Risk
RS200043223
Conflicting classifications of pathogenicity
Congenital isolated adrenocorticotropic hormone deficiency, TBX19-related disorder, Congenital isolated adrenocorticotropic hormone deficiency
Health Risk
RS200775601
Conflicting classifications of pathogenicity
Congenital isolated adrenocorticotropic hormone deficiency, Inborn genetic diseases, Congenital isolated adrenocorticotropic hormone deficiency
Health Risk
RS57039241
Conflicting classifications of pathogenicity
Congenital isolated adrenocorticotropic hormone deficiency, Congenital isolated adrenocorticotropic hormone deficiency
Health Risk
RS762160668
Conflicting classifications of pathogenicity
Congenital isolated adrenocorticotropic hormone deficiency, Congenital isolated adrenocorticotropic hormone deficiency
Health Risk
RS886045513
Conflicting classifications of pathogenicity
Congenital isolated adrenocorticotropic hormone deficiency, Congenital isolated adrenocorticotropic hormone deficiency
Health Risk
RS1310982370
Likely pathogenic
Congenital isolated adrenocorticotropic hormone deficiency, Congenital isolated adrenocorticotropic hormone deficiency
Health Risk
RS1558193255
Likely pathogenic
Congenital isolated adrenocorticotropic hormone deficiency, Congenital isolated adrenocorticotropic hormone deficiency
Health Risk
RS2525836270
Likely pathogenic
Congenital isolated adrenocorticotropic hormone deficiency, Congenital isolated adrenocorticotropic hormone deficiency
Health Risk
RS2525836300
Likely pathogenic
Congenital isolated adrenocorticotropic hormone deficiency, Congenital isolated adrenocorticotropic hormone deficiency
Health Risk
RS748717639
Likely pathogenic
Congenital isolated adrenocorticotropic hormone deficiency, See cases, Congenital isolated adrenocorticotropic hormone deficiency
Health Risk
All Variants (26)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS143377172 | Health Risk | Conflicting classifications of pathogenicity | Congenital isolated adrenocorticotropic hormone deficiency, Congenital isolated adrenocorticotropic hormone deficiency |
| RS143801899 | Health Risk | Conflicting classifications of pathogenicity | Congenital isolated adrenocorticotropic hormone deficiency, Congenital isolated adrenocorticotropic hormone deficiency |
| RS200043223 | Health Risk | Conflicting classifications of pathogenicity | Congenital isolated adrenocorticotropic hormone deficiency, TBX19-related disorder, Congenital isolated adrenocorticotropic hormone deficiency |
| RS200775601 | Health Risk | Conflicting classifications of pathogenicity | Congenital isolated adrenocorticotropic hormone deficiency, Inborn genetic diseases, Congenital isolated adrenocorticotropic hormone deficiency |
| RS57039241 | Health Risk | Conflicting classifications of pathogenicity | Congenital isolated adrenocorticotropic hormone deficiency, Congenital isolated adrenocorticotropic hormone deficiency |
| RS762160668 | Health Risk | Conflicting classifications of pathogenicity | Congenital isolated adrenocorticotropic hormone deficiency, Congenital isolated adrenocorticotropic hormone deficiency |
| RS886045513 | Health Risk | Conflicting classifications of pathogenicity | Congenital isolated adrenocorticotropic hormone deficiency, Congenital isolated adrenocorticotropic hormone deficiency |
| RS1310982370 | Health Risk | Likely pathogenic | Congenital isolated adrenocorticotropic hormone deficiency, Congenital isolated adrenocorticotropic hormone deficiency |
| RS1558193255 | Health Risk | Likely pathogenic | Congenital isolated adrenocorticotropic hormone deficiency, Congenital isolated adrenocorticotropic hormone deficiency |
| RS2525836270 | Health Risk | Likely pathogenic | Congenital isolated adrenocorticotropic hormone deficiency, Congenital isolated adrenocorticotropic hormone deficiency |
| RS2525836300 | Health Risk | Likely pathogenic | Congenital isolated adrenocorticotropic hormone deficiency, Congenital isolated adrenocorticotropic hormone deficiency |
| RS748717639 | Health Risk | Likely pathogenic | Congenital isolated adrenocorticotropic hormone deficiency, See cases, Congenital isolated adrenocorticotropic hormone deficiency |
| RS140528998 | Health Risk | Pathogenic | Congenital isolated adrenocorticotropic hormone deficiency, Congenital isolated adrenocorticotropic hormone deficiency |
| RS1553289042 | Health Risk | Pathogenic | Congenital isolated adrenocorticotropic hormone deficiency, Congenital isolated adrenocorticotropic hormone deficiency |
| RS1558190339 | Health Risk | Pathogenic | Congenital isolated adrenocorticotropic hormone deficiency, Congenital isolated adrenocorticotropic hormone deficiency |
| RS1558192351 | Health Risk | Pathogenic | Congenital isolated adrenocorticotropic hormone deficiency, Congenital isolated adrenocorticotropic hormone deficiency |
| RS1649150256 | Health Risk | Pathogenic | Congenital isolated adrenocorticotropic hormone deficiency, Congenital isolated adrenocorticotropic hormone deficiency |
| RS200197424 | Health Risk | Pathogenic | Congenital isolated adrenocorticotropic hormone deficiency, Congenital isolated adrenocorticotropic hormone deficiency |
| RS730880274 | Health Risk | Pathogenic | Congenital isolated adrenocorticotropic hormone deficiency, TBX19-related disorder, Congenital isolated adrenocorticotropic hormone deficiency |
| RS74315376 | Health Risk | Pathogenic | Congenital isolated adrenocorticotropic hormone deficiency, Congenital isolated adrenocorticotropic hormone deficiency |
| RS74315377 | Health Risk | Pathogenic | Congenital isolated adrenocorticotropic hormone deficiency, Congenital isolated adrenocorticotropic hormone deficiency |
| RS74315378 | Health Risk | Pathogenic | Congenital isolated adrenocorticotropic hormone deficiency, Congenital isolated adrenocorticotropic hormone deficiency |
| RS753455443 | Health Risk | Pathogenic | Congenital isolated adrenocorticotropic hormone deficiency, Congenital isolated adrenocorticotropic hormone deficiency |
| RS760520604 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS930801019 | Health Risk | Pathogenic | Congenital isolated adrenocorticotropic hormone deficiency, Congenital isolated adrenocorticotropic hormone deficiency |
| RS763818059 | Health Risk | Pathogenic/Likely pathogenic | Congenital isolated adrenocorticotropic hormone deficiency, Congenital isolated adrenocorticotropic hormone deficiency |