Annotation Detail
Information
- Associated Genes
- COL5A2
- Associated Variants
-
COL5A2 p.Val512Ala (p.V512A)
(
ENST00000374866.9,
ENST00000618828.1 )
COL5A2 p.Val512Ala (p.V512A) ( ENST00000374866.9, ENST00000618828.1 ) - Associated Disease
- Familial thoracic aortic aneurysm and aortic dissection
- Source Database
- ClinVar
- Description
- NM_000393.5(COL5A2):c.1535T>C (p.Val512Ala) AND Familial thoracic aortic aneurysm and aortic dissection
- ClinVar Allele ID
- 140644
- ClinVar RefSeq Alternation Syntax
- NM_000393.5:c.1535T>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2015-08-07
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002312858
- ClinVar Disease
- Familial thoracic aortic aneurysm and aortic dissection
- Observed Origin Sample
- germline
Drugs