MYL3, myosin light chain 3, 4634

N. diseases: 37; N. variants: 17
Disease: Cardiomyopathy, Hypertrophic, Familial ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199474703
rs199474703
Entrez Id: 4634
Gene Symbol: MYL3
MYL3
CUI: C0949658
Disease:
Cardiomyopathy, Hypertrophic, Familial 		T 0.700 CausalMutation CLINVAR Whole exome sequencing combined with integrated variant annotation prediction identifies a causative myosin essential light chain variant in hypertrophic cardiomyopathy. 26443374 2016