Annotation Detail
Information
- Associated Genes
- LMNA
- Associated Variants
-
LMNA p.Gly608= (p.G608=)
(
ENST00000361308.9,
ENST00000368299.7,
ENST00000676385.2,
ENST00000504687.7,
ENST00000368300.9,
ENST00000682650.1,
ENST00000448611.6,
ENST00000675667.1,
ENST00000675939.1,
ENST00000473598.6,
ENST00000683032.1 )
LMNA p.Gly608= (p.G608=) ( ENST00000361308.9, ENST00000368299.7, ENST00000368300.9, ENST00000448611.6, ENST00000473598.6, ENST00000504687.7, ENST00000675667.1, ENST00000675939.1, ENST00000676385.2, ENST00000682650.1, ENST00000683032.1 ) - Associated Disease
- Dissecting aneurysm of the thoracic aorta
- Source Database
- DisGeNET
- Description
- To induce the expression of the most common HGPS mutation, LMNA c.1824C>T; p.G608G, in the vascular smooth muscle cells of the aortic arch and thoracic aorta, we used the previously described reverse tetracycline-controlled transactivator, sm22α-rtTA.
- Pubmed
- 25090270
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2014
Drugs