Annotation Detail
Information
- Associated Genes
- LMNA
- Associated Variants
-
LMNA p.Glu82Lys (p.E82K)
(
ENST00000368299.7,
ENST00000361308.9,
ENST00000676385.2,
ENST00000368300.9,
ENST00000682650.1,
ENST00000677389.1,
ENST00000368301.6,
ENST00000675939.1,
ENST00000675667.1,
ENST00000683032.1 )
LMNA p.Glu82Lys (p.E82K) ( ENST00000361308.9, ENST00000368299.7, ENST00000368300.9, ENST00000368301.6, ENST00000675667.1, ENST00000675939.1, ENST00000676385.2, ENST00000677389.1, ENST00000682650.1, ENST00000683032.1 ) - Associated Disease
- Cardiomyopathies
- Source Database
- DisGeNET
- Description
- Mutation Glu82Lys in lamin A/C gene is associated with cardiomyopathy and conduction defect.
- Pubmed
- 16630578
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.139964603358693
- Year of publication
- 2006
Drugs