rs551820554
This variant is located in the ACTC1 gene.
▶ClinVar annotation
Familial restrictive cardiomyopathy; Left ventricular noncompaction cardiomyopathy; Dilated Cardiomyopathy, Dominant; Atrial septal defect; Hypertrophic cardiomyopathy
View on ClinVar →About ACTC1
Actins are highly conserved proteins that are involved in various types of cell motility. Polymerization of globular actin (G-actin) leads to a structural filament (F-actin) in the form of a two-stranded helix. Each actin can bind to four others. The protein encoded by this gene belongs to the actin family which is comprised of three main groups of actin isoforms, alpha, beta, and gamma. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. Defects in this gene have been associated with idiopathic dilated cardiomyopathy (IDC) and familial hypertrophic cardiomyopathy (FHC). [provided by RefSeq, Jul 2008]
View all ACTC1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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