Annotation Detail
Information
- Associated Genes
- LMNA
- Associated Variants
-
LMNA p.Arg225Ter (p.R225*)
(
ENST00000361308.9,
ENST00000504687.7,
ENST00000677389.1,
ENST00000368299.7,
ENST00000448611.6,
ENST00000676385.2,
ENST00000368300.9,
ENST00000682650.1,
ENST00000675939.1,
ENST00000675667.1,
ENST00000368301.6,
ENST00000473598.6,
ENST00000683032.1,
ENST00000368297.5 )
LMNA p.Arg225Ter (p.R225*) ( ENST00000361308.9, ENST00000368297.5, ENST00000368299.7, ENST00000368300.9, ENST00000368301.6, ENST00000448611.6, ENST00000473598.6, ENST00000504687.7, ENST00000675667.1, ENST00000675939.1, ENST00000676385.2, ENST00000677389.1, ENST00000682650.1, ENST00000683032.1 ) - Associated Disease
- Thromboembolism
- Source Database
- DisGeNET
- Description
- Our study confirmed that the p.R225X mutation leads to cardiac conduction disease with late or no development of DCM, underscoring the importance of this mutation in putative familial lone conduction disease. Nearly one third of LMNA mutation carriers had experienced a thromboembolic event.
- Pubmed
- 18035086
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2007
Drugs