Gene entry
TGFB3
transforming growth factor beta 3
- Chromosome
- 14
- Cytoband
- 14q24.3
- Variants (rsID)
- 10
TGFB3 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 14 (region 14q24.3). Its official name is “transforming growth factor beta 3”. The reference table lists 10 variants (rsID) for this gene.
Clinically classified variants
5 reference-table entries with clinical significance.
- rs142047577Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Arrhythmogenic right ventricular cardiomyopathy|Left ventricular noncompaction|Hypertrophic cardiomyopathy|Loeys-Dietz syndrome 4|Familial thoracic aortic aneurysm and aortic dissection
- rs370006165Conflicting interpretationssingle nucleotide variantLoeys-Dietz syndrome 4|Cardiovascular phenotype
- rs778214495Likely benignsingle nucleotide variantLoeys-Dietz syndrome 4|Cardiovascular phenotype
- rs587777617Pathogenicsingle nucleotide variantRienhoff syndrome|Loeys-Dietz syndrome 4
- rs796051885Pathogenicsingle nucleotide variantRienhoff syndrome|Loeys-Dietz syndrome 4|Cardiovascular phenotype|Familial thoracic aortic aneurysm and aortic dissection
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.