Annotation Detail
Information
- Associated Genes
- ACTA2
- Associated Variants
-
ACTA2 p.Met49Val (p.M49V)
(
ENST00000713602.1,
ENST00000371927.7,
ENST00000713598.1,
ENST00000458159.6,
ENST00000713599.1,
ENST00000713600.1,
ENST00000713597.1,
ENST00000224784.10,
ENST00000415557.2,
ENST00000713601.1 )
ACTA2 p.Met49Val (p.M49V) ( ENST00000224784.10, ENST00000415557.2, ENST00000458159.6, ENST00000713597.1, ENST00000713598.1, ENST00000713599.1, ENST00000713600.1, ENST00000713601.1, ENST00000713602.1, ENST00000371927.7 ) - Associated Disease
- Aortic aneurysm, familial thoracic 6
- Source Database
- ClinVar
- Description
- NM_001613.4(ACTA2):c.145A>G (p.Met49Val) AND Aortic aneurysm, familial thoracic 6
- ClinVar Allele ID
- 76367
- ClinVar RefSeq Alternation Syntax
- NM_001141945.3:c.145A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406462.1:c.145A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406471.1:c.145A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406466.1:c.145A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406463.1:c.145A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406464.1:c.145A>G
- ClinVar RefSeq Alternation Syntax
- NM_001320855.2:c.145A>G
- ClinVar RefSeq Alternation Syntax
- NM_001613.4:c.145A>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2011-05-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000055648
- ClinVar Disease
- Aortic aneurysm, familial thoracic 6
- Observed Origin Sample
- germline
- Pubmed
- 21248741
Drugs