MYL3, myosin light chain 3, 4634

N. diseases: 37; N. variants: 17
Disease: Hypertrophic Cardiomyopathy ×
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: C0007194
Disease:
Hypertrophic Cardiomyopathy 		T 0.700 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
dbSNP: rs199474703
rs199474703
Entrez Id: 4634
Gene Symbol: MYL3
MYL3
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		T 0.700 GeneticVariation CLINVAR Whole exome sequencing combined with integrated variant annotation prediction identifies a causative myosin essential light chain variant in hypertrophic cardiomyopathy. 26443374 2016
dbSNP: rs199474703
rs199474703
Entrez Id: 4634
Gene Symbol: MYL3
MYL3
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		T 0.700 GeneticVariation CLINVAR Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy. 23283745 2013
dbSNP: rs199474703
rs199474703
Entrez Id: 4634
Gene Symbol: MYL3
MYL3
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		T 0.700 GeneticVariation CLINVAR A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy. 18409188 2008
dbSNP: rs199474703
rs199474703
Entrez Id: 4634
Gene Symbol: MYL3
MYL3
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		T 0.700 CausalMutation CLINVAR