Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs59270054
rs59270054
A 0.720 CausalMutation CLINVAR LMNA E82K mutation activates FAS and mitochondrial pathways of apoptosis in heart tissue specific transgenic mice. 21151901

2010

dbSNP: rs59270054
rs59270054
A 0.720 CausalMutation CLINVAR Connexin 43 remodeling induced by LMNA gene mutation Glu82Lys in familial dilated cardiomyopathy with atrial ventricular block. 20497714

2010

dbSNP: rs59270054
rs59270054
0.720 GeneticVariation BEFREE Heart tissue specific transgenic mice of human LMNA E82K, a mutation causing dilated cardiomyopathy, were generated. 21151901

2010

dbSNP: rs59270054
rs59270054
A 0.720 CausalMutation CLINVAR Identification of a new lamin A/C mutation in a Chinese family affected with atrioventricular block as the prominent phenotype. 20155465

2010

dbSNP: rs59270054
rs59270054
A 0.720 CausalMutation CLINVAR [Effects of a novel familial dilated cardiomyopathy associated LMNA gene mutation E82K on cell cycle of HEK293 cells]. 17386158

2007

dbSNP: rs59270054
rs59270054
A 0.720 CausalMutation CLINVAR Mutation Glu82Lys in lamin A/C gene is associated with cardiomyopathy and conduction defect. 16630578

2006

dbSNP: rs59270054
rs59270054
0.720 GeneticVariation BEFREE We screened genetic mutations in a large Chinese family of 50 members including members with dilated cardiomyopathy and found a Glu82Lys substitution mutation in the rod domain of the lamin A/C protein in eight family members, three of them have been diagnosed as dilated cardiomyopathy, one presented with heart dilation. 16630578

2006

dbSNP: rs59270054
rs59270054
A 0.720 CausalMutation CLINVAR [A novel LMNA gene mutation E82K associated with familial dilated cardiomyopathy]. 16266469

2005