Annotation Detail
Information
- Associated Genes
- ACTA2
- Associated Variants
-
ACTA2 p.Arg179His (p.R179H)
(
ENST00000224784.10,
ENST00000458159.6,
ENST00000415557.2,
ENST00000371927.7,
ENST00000713597.1,
ENST00000713598.1,
ENST00000713599.1,
ENST00000713600.1,
ENST00000713601.1,
ENST00000713602.1 )
ACTA2 p.Arg179His (p.R179H) ( ENST00000713601.1, ENST00000224784.10, ENST00000415557.2, ENST00000458159.6, ENST00000713597.1, ENST00000713598.1, ENST00000713599.1, ENST00000713600.1, ENST00000713602.1, ENST00000371927.7 ) - Associated Disease
- Vascular Diseases
- Source Database
- DisGeNET
- Description
- Mutations in the ACTA2 gene lead to diffuse and diverse vascular diseases; the Arg179His mutation is associated with an early onset severe phenotype due to global smooth muscle dysfunction.
- Pubmed
- 22831780
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00190009310456212
- Year of publication
- 2012
Drugs