This gene encodes a filamentous actin-binding protein that may function in cell adhesion and migration. Mutations in this gene have been associated with dilated cardiomyopathy, also known as CMD1CC. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010]
- Homophilic cell adhesion via plasma membrane adhesion molecules
- Axon guidance
- Response to bacterium
- Regulation of cell migration
- Regulation of cytoskeleton organization
- Cardiomyopathy, familial hypertrophic, 20
- Cardiomyopathy, dilated, 1cc
- Familial isolated dilated cardiomyopathy
- Dilated cardiomyopathy
- Hypertrophic cardiomyopathy
- General Cardiomyopathy
- Dilated Cardiomyopathy
- Hypertrophic Cardiomyopathy
Based on Ayass Bioscience, LLC Data Analysis
HM-VUS Prevalence
% 0.0510725229826353
Ratio of samples with at least 1 High/Med VUS variant (Computed from Ayass Bioscience Samples)
High/Med VUS Variants
G=0.000245(61/249124,GnomAD_exome)
G=0.000239(30/125568,TOPMED)
G=0.000258(31/120384,ExAC)
G=0.00056(48/85960,ALFAProject)
G=0.00030(24/78702,PAGE_STUDY)
G=0.00026(8/31362,GnomAD)
G=0.00017(2/11964,GO-ESP)
G=0.0002(1/5008,1000G)
G=0.0000(0/3854,ALSPAC)
G=0.0008(3/3708,TWINSUK)
G=0.001(1/998,GoNL)
G=0.002(1/534,MGP)