Annotation Detail
Information
- Associated Genes
- TGFBR2
- Associated Variants
-
NC_000003.12:g.30694445G>A
NC_000003.12:g.30694445G>A - Associated Disease
- Familial thoracic aortic aneurysm and aortic dissection
- Source Database
- ClinVar
- Description
- NC_000003.12:g.30694445G>A AND Familial thoracic aortic aneurysm and aortic dissection
- ClinVar Allele ID
- 1154459
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-01-19
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001522970
- ClinVar Disease
- Familial thoracic aortic aneurysm and aortic dissection
- Observed Origin Sample
- germline
Drugs