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: rs1558081605
rs1558081605
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
CUI: C3711389
Disease:
Actin-Accumulation Myopathy 		G 0.700 CausalMutation CLINVAR Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom. 23394784 2013