Gene: ACTA1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909520
rs121909520
ACTA1
0.010 GeneticVariation BEFREE The de novo missense mutation N117S in skeletal muscle α‑actin 1 causes a mild form of congenital nemaline myopathy. 27357517

2016
dbSNP: rs886044062
rs886044062
ACTA1
0.010 GeneticVariation BEFREE The diagnosis of nemaline myopathy was given based on the muscle pathology findings that revealed nemaline rods on light and electron microscopy and discovery of a novel mutation, E239K, in ACTA1. 21570694

2011
dbSNP: rs267606626
rs267606626
ACTA1
0.010 GeneticVariation BEFREE Severe nemaline myopathy associated with consecutive mutations E74D and H75Y on a single ACTA1 allele. 19553116

2009
dbSNP: rs267606627
rs267606627
ACTA1
0.010 GeneticVariation BEFREE Severe nemaline myopathy associated with consecutive mutations E74D and H75Y on a single ACTA1 allele. 19553116

2009
dbSNP: rs1273559032
rs1273559032
ACTA1
0.010 GeneticVariation BEFREE Functional characterisation of a mutant actin (Met132Val) from a patient with nemaline myopathy. 14733965

2004