3billion
back to listBack to List

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.

Frequently observed phenotypes

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

Left ventricular hypertrophy
 6 (60.0%)
Heart failure
 2 (20.0%)
Arrhythmias
 2 (20.0%)
Pain
 2 (20.0%)
Cardiomyopathy
 
1 (10.0%)
ACTC1 - Gene browser | 3billion