Annotation Detail
Information
- Associated Genes
- LMNA
- Associated Variants
-
LMNA p.Arg28Gly (p.R28G)
(
ENST00000368299.7,
ENST00000361308.9,
ENST00000676385.2,
ENST00000368300.9,
ENST00000682650.1,
ENST00000675939.1,
ENST00000675667.1,
ENST00000677389.1,
ENST00000368301.6,
ENST00000683032.1 )
LMNA p.Arg28Trp (p.R28W) ( ENST00000361308.9, ENST00000368299.7, ENST00000676385.2, ENST00000368300.9, ENST00000682650.1, ENST00000677389.1, ENST00000368301.6, ENST00000675939.1, ENST00000675667.1, ENST00000683032.1 )
LMNA p.Arg28Gly (p.R28G) ( ENST00000361308.9, ENST00000368299.7, ENST00000368300.9, ENST00000368301.6, ENST00000675667.1, ENST00000675939.1, ENST00000676385.2, ENST00000677389.1, ENST00000682650.1, ENST00000683032.1 )
LMNA p.Arg28Trp (p.R28W) ( ENST00000361308.9, ENST00000368299.7, ENST00000368300.9, ENST00000368301.6, ENST00000675667.1, ENST00000675939.1, ENST00000676385.2, ENST00000677389.1, ENST00000682650.1, ENST00000683032.1 ) - Associated Disease
- Muscular Dystrophies, Limb-Girdle
- Source Database
- DisGeNET
- Description
- Multisystem disorder and limb girdle muscular dystrophy caused by LMNA p.R28W mutation.
- Pubmed
- 23746545
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.133873330041088
- Year of publication
- 2013
Drugs