Annotation Detail
Information
- Associated Genes
- LMNA
- Associated Variants
-
LMNA p.Arg25Pro (p.R25P)
(
ENST00000675667.1,
ENST00000675939.1,
ENST00000677389.1,
ENST00000368301.6,
ENST00000683032.1,
ENST00000368299.7,
ENST00000361308.9,
ENST00000676385.2,
ENST00000368300.9,
ENST00000682650.1 )
LMNA p.Arg25Leu (p.R25L) ( ENST00000683032.1, ENST00000675939.1, ENST00000675667.1, ENST00000677389.1, ENST00000368301.6, ENST00000676385.2, ENST00000368300.9, ENST00000682650.1, ENST00000368299.7, ENST00000361308.9 )
LMNA p.Ala43Thr (p.A43T) ( ENST00000368301.6, ENST00000677389.1, ENST00000675939.1, ENST00000675667.1, ENST00000683032.1, ENST00000361308.9, ENST00000368299.7, ENST00000368300.9, ENST00000682650.1, ENST00000676385.2 )
LMNA p.Arg50Ser (p.R50S) ( ENST00000675667.1, ENST00000675939.1, ENST00000368301.6, ENST00000677389.1, ENST00000683032.1, ENST00000361308.9, ENST00000368299.7, ENST00000368300.9, ENST00000682650.1, ENST00000676385.2 )
LMNA p.Arg50Cys (p.R50C) ( ENST00000676385.2, ENST00000368300.9, ENST00000682650.1, ENST00000361308.9, ENST00000368299.7, ENST00000683032.1, ENST00000675667.1, ENST00000675939.1, ENST00000677389.1, ENST00000368301.6 )
LMNA p.Arg133Gln (p.R133Q) ( ENST00000675667.1, ENST00000675939.1, ENST00000677389.1, ENST00000368301.6, ENST00000473598.6, ENST00000683032.1, ENST00000368297.5, ENST00000361308.9, ENST00000368299.7, ENST00000448611.6, ENST00000676385.2, ENST00000504687.7, ENST00000368300.9, ENST00000682650.1 )
LMNA p.Arg133Pro (p.R133P) ( ENST00000368301.6, ENST00000677389.1, ENST00000675667.1, ENST00000675939.1, ENST00000368297.5, ENST00000683032.1, ENST00000473598.6, ENST00000368299.7, ENST00000361308.9, ENST00000504687.7, ENST00000368300.9, ENST00000682650.1, ENST00000676385.2, ENST00000448611.6 )
LMNA p.Arg133Leu (p.R133L) ( ENST00000448611.6, ENST00000504687.7, ENST00000368300.9, ENST00000682650.1, ENST00000676385.2, ENST00000361308.9, ENST00000368299.7, ENST00000473598.6, ENST00000683032.1, ENST00000368297.5, ENST00000675939.1, ENST00000675667.1, ENST00000368301.6, ENST00000677389.1 )
LMNA p.Arg25Pro (p.R25P) ( ENST00000361308.9, ENST00000368299.7, ENST00000368300.9, ENST00000368301.6, ENST00000675667.1, ENST00000675939.1, ENST00000676385.2, ENST00000677389.1, ENST00000682650.1, ENST00000683032.1 )
LMNA p.Arg25Leu (p.R25L) ( ENST00000361308.9, ENST00000368299.7, ENST00000368300.9, ENST00000368301.6, ENST00000675667.1, ENST00000675939.1, ENST00000676385.2, ENST00000677389.1, ENST00000682650.1, ENST00000683032.1 )
LMNA p.Ala43Thr (p.A43T) ( ENST00000361308.9, ENST00000368299.7, ENST00000368300.9, ENST00000368301.6, ENST00000675667.1, ENST00000675939.1, ENST00000676385.2, ENST00000677389.1, ENST00000682650.1, ENST00000683032.1 )
LMNA p.Arg50Ser (p.R50S) ( ENST00000361308.9, ENST00000368299.7, ENST00000368300.9, ENST00000368301.6, ENST00000675667.1, ENST00000675939.1, ENST00000676385.2, ENST00000677389.1, ENST00000682650.1, ENST00000683032.1 )
LMNA p.Arg50Cys (p.R50C) ( ENST00000361308.9, ENST00000368299.7, ENST00000368300.9, ENST00000368301.6, ENST00000675667.1, ENST00000675939.1, ENST00000676385.2, ENST00000677389.1, ENST00000682650.1, ENST00000683032.1 )
LMNA p.Arg133Gln (p.R133Q) ( 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 )
LMNA p.Arg133Pro (p.R133P) ( 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 )
LMNA p.Arg133Leu (p.R133L) ( 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
- Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
- Source Database
- DisGeNET
- Description
- Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy.
- Pubmed
- 11503164
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.447057488674088
- Year of publication
- 2001
Drugs