ACTB, actin beta, 60

N. diseases: 1110; N. variants: 39
Disease: Fryns-Aftimos Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894003
rs104894003
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C1853623
Disease:
Fryns-Aftimos Syndrome 		0.010 GeneticVariation BEFREE The p.Arg183Trp mutation in the beta-actin gene is associated with the clinical presentation of dystonia-deafness syndrome, even with only minimal or no developmental abnormalities of Baraitser-Winter syndrome. 27862284 2017