Gene symbol and protein
Gene Location
All allelic disease phenotypes - locus/disease symbols
ACTA1
Alpha actin, skeletal muscle




1q42.1
* Congenital muscular dystrophy with rigid spine related to ACTA1 - (2.45, 3.3, 3.14, 3.40, 10.95)
* Nemaline myopathy 3 - NEM3 (2.45, 3.3, 3.14, 3.40, 10.95)
* myopathy, congenital, with fiber-type disproportion - CFTD (2.45, 3.3, 3.14, 3.40, 10.95)
* Left ventricular noncompaction 4 - LVNC4 (2.45, 3.3, 3.14, 3.40, 10.95)