Gene entry
TGFBR1
transforming growth factor beta receptor 1
- Chromosome
- 9
- Cytoband
- 9q22.33
- Variants (rsID)
- 39
TGFBR1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 9 (region 9q22.33). Its official name is “transforming growth factor beta receptor 1”. The reference table lists 39 variants (rsID) for this gene.
Clinically classified variants
30 reference-table entries with clinical significance.
- rs56014374Benignsingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Loeys-Dietz syndrome|Loeys-Dietz syndrome 1|Cardiovascular phenotype|Ehlers-Danlos syndrome
- rs148176750Conflicting interpretationssingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Loeys-Dietz syndrome 1|Loeys-Dietz syndrome|Cardiovascular phenotype
- rs190878719Conflicting interpretationssingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Loeys-Dietz syndrome 1|Loeys-Dietz syndrome|Cardiovascular phenotype
- rs374717754Conflicting interpretationssingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Cardiovascular phenotype
- rs863223818Conflicting interpretationssingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection
- rs878854714Conflicting interpretationssingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Loeys-Dietz syndrome 1
- rs730880223Likely pathogenicsingle nucleotide variantLoeys-Dietz syndrome
- rs772339721Likely pathogenicsingle nucleotide variant
- rs863223811Likely pathogenicsingle nucleotide variant
- rs863223814Likely pathogenicsingle nucleotide variant
- rs863223815Likely pathogenicsingle nucleotide variant
- rs863223816Likely pathogenicsingle nucleotide variant
- rs863223817Likely pathogenicsingle nucleotide variant
- rs863223822Likely pathogenicsingle nucleotide variant
- rs1060502040Pathogenicsingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection
- rs111426349Pathogenicsingle nucleotide variantLoeys-Dietz syndrome 1|Familial thoracic aortic aneurysm and aortic dissection|Loeys-Dietz syndrome|Familial thoracic aortic aneurysm and aortic dissection|Cardiovascular phenotype|Multiple self-healing squamous epithelioma|Loeys-Dietz syndrome 1
- rs111854391Pathogenicsingle nucleotide variantLoeys-Dietz syndrome 1|Loeys-Dietz syndrome|Familial thoracic aortic aneurysm and aortic dissection|Cardiovascular phenotype|Marfan syndrome|Loeys-Dietz syndrome 1
- rs121918710Pathogenicsingle nucleotide variantLoeys-Dietz syndrome 1
- rs121918711Pathogenicsingle nucleotide variantLoeys-Dietz syndrome 1
- rs121918712Pathogenicsingle nucleotide variantLoeys-Dietz syndrome 1
- rs121918713Pathogenicsingle nucleotide variantLoeys-Dietz syndrome 1
- rs387906697Pathogenicsingle nucleotide variantMultiple self-healing squamous epithelioma|Familial thoracic aortic aneurysm and aortic dissection
- rs863223819Pathogenicsingle nucleotide variant
- rs863223829PathogenicMicrosatelliteLoeys-Dietz syndrome|Familial thoracic aortic aneurysm and aortic dissection
- rs886038919Pathogenicsingle nucleotide variantCardiovascular phenotype|Loeys-Dietz syndrome|Familial thoracic aortic aneurysm and aortic dissection|Marfan syndrome
- rs202010361Uncertain significancesingle nucleotide variantCardiovascular phenotype|Familial thoracic aortic aneurysm and aortic dissection
- rs727503470Uncertain significancesingle nucleotide variant
- rs863223832Uncertain significancesingle nucleotide variant
- rs869025535Uncertain significancesingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Disproportionate tall stature|Familial thoracic aortic aneurysm and aortic dissection
- rs334353Not classifiedsingle nucleotide variant
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.