MYL3, myosin light chain 3, 4634

N. diseases: 37; N. variants: 17
Disease: Heart Diseases ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs139794067
rs139794067
Entrez Id: 4634
Gene Symbol: MYL3
MYL3
CUI: C0018799
Disease:
Heart Diseases 		0.010 GeneticVariation BEFREE To address this challenge and showcase the uncertainty surrounding genomic variant interpretation, we recruited a "healthy" asymptomatic individual, lacking cardiac-disease clinical history, carrying a hypertrophic cardiomyopathy (HCM)-associated genetic variant (NM_000258.2:c.170C>A, NP_000249.1:p.Ala57Asp) in the sarcomeric gene MYL3, reported by the ClinVar database to be "likely pathogenic." 29914921 2018