ACTA1, actin alpha 1, skeletal muscle, 58

N. diseases: 217; N. variants: 59
Disease: Actin-Accumulation Myopathy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909521
rs121909521
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
CUI: C3711389
Disease:
Actin-Accumulation Myopathy 		0.700 GeneticVariation UNIPROT Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy. 10508519 1999