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: rs1558082053
rs1558082053
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
CUI: C3711389
Disease:
Actin-Accumulation Myopathy 		T 0.700 CausalMutation CLINVAR Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic. 27447704 2017
dbSNP: rs1558082053
rs1558082053
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
CUI: C3711389
Disease:
Actin-Accumulation Myopathy 		T 0.700 CausalMutation CLINVAR LOVD v.2.0: the next generation in gene variant databases. 21520333 2011