rs1845779514
This variant is located in the ACTA2 gene.
▶ClinVar annotation
Familial thoracic aortic aneurysm and aortic dissection
View on ClinVar →About ACTA2
This gene encodes one of six different actin proteins. Actins are highly conserved proteins that are involved in cell motility, structure, integrity, and intercellular signaling. The encoded protein is a smooth muscle actin that is involved in vascular contractility and blood pressure homeostasis. Mutations in this gene cause a variety of vascular diseases, such as thoracic aortic disease, coronary artery disease, stroke, and Moyamoya disease, as well as multisystemic smooth muscle dysfunction syndrome. [provided by RefSeq, Sep 2017]
View all ACTA2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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