Annotation Detail
Information
- Associated Genes
- ACTA2
- Associated Variants
-
ACTA2 p.Arg149Cys (p.R149C)
(
ENST00000713597.1,
ENST00000224784.10,
ENST00000713600.1,
ENST00000713601.1,
ENST00000415557.2,
ENST00000713598.1,
ENST00000371927.7,
ENST00000713602.1,
ENST00000713599.1,
ENST00000458159.6 )
ACTA2 p.Arg149Cys (p.R149C) ( 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.445C>T (p.Arg149Cys) AND Aortic aneurysm, familial thoracic 6
- ClinVar Allele ID
- 33315
- ClinVar RefSeq Alternation Syntax
- NM_001406471.1:c.445C>T
- ClinVar RefSeq Alternation Syntax
- NM_001613.4:c.445C>T
- ClinVar RefSeq Alternation Syntax
- NM_001320855.2:c.445C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406464.1:c.445C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406466.1:c.334C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406469.1:c.316C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406468.1:c.316C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406467.1:c.316C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406462.1:c.445C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406463.1:c.445C>T
- ClinVar RefSeq Alternation Syntax
- NM_001141945.3:c.445C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-10-18
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000019938
- ClinVar Disease
- Aortic aneurysm, familial thoracic 6
- Observed Origin Sample
- germline
- Pubmed
- 19409525
- Pubmed
- 17994018
Drugs