ACTC1 - Gene browser

ACTC1

actin alpha cardiac muscle 1

HCNC Approved Symbol: ACTC1 (HGNC:143)
Genomic Coordinates: 15:34,790,230 - 34,795,549 (15q14)
Synonyms: CMD1R, ACTC
Disease Associations: This gene is associated with the following 4 diseases in OMIM.

Diagnosed Cases

10Patients

In total, 10 patients were diagnosed with a variant in the ACTC1 gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

010
Patient count

Left ventricular hypertrophy: 6 (60.0%)
Patient Count: 6 (60.0%)
% of total patients presenting each phenotype is shown in parentheses.
6 (60.0%)
Heart failure: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)
Arrhythmias: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)
Pain: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)
Cardiomyopathy: 1 (10.0%)
Patient Count: 1 (10.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (10.0%)