Annotation Detail
Information
- Associated Genes
- LMNA
- Associated Variants
-
LMNA p.Ser17AlafsTer79 (p.S17Afs*79)
(
ENST00000675667.1,
ENST00000675939.1,
ENST00000677389.1,
ENST00000368301.6,
ENST00000683032.1,
ENST00000368299.7,
ENST00000361308.9,
ENST00000676385.2,
ENST00000368300.9,
ENST00000682650.1 )
LMNA p.Arg321GlufsTer159 (p.R321Efs*159) ( ENST00000361308.9, ENST00000368299.7, ENST00000448611.6, ENST00000368300.9, ENST00000682650.1, ENST00000504687.7, ENST00000676385.2, ENST00000675667.1, ENST00000675939.1, ENST00000368301.6, ENST00000677389.1, ENST00000473598.6, ENST00000683032.1, ENST00000368297.5 )
LMNA p.Ser17AlafsTer79 (p.S17Afs*79) ( ENST00000361308.9, ENST00000368299.7, ENST00000368300.9, ENST00000368301.6, ENST00000675667.1, ENST00000675939.1, ENST00000676385.2, ENST00000677389.1, ENST00000682650.1, ENST00000683032.1 )
LMNA p.Arg321GlufsTer159 (p.R321Efs*159) ( 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.Gln6Ter (p.Q6*) ( ENST00000368300.9, ENST00000682650.1, ENST00000676385.2, ENST00000361308.9, ENST00000368299.7, ENST00000683032.1, ENST00000368301.6, ENST00000677389.1, ENST00000675667.1, ENST00000675939.1 )
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.His222Tyr (p.H222Y) ( ENST00000683032.1, ENST00000473598.6, ENST00000368297.5, ENST00000675939.1, ENST00000675667.1, ENST00000368301.6, ENST00000677389.1, ENST00000448611.6, ENST00000368300.9, ENST00000682650.1, ENST00000504687.7, ENST00000676385.2, ENST00000368299.7, ENST00000361308.9 )
LMNA p.Arg225Gln (p.R225Q) ( ENST00000368297.5, ENST00000473598.6, ENST00000683032.1, ENST00000368301.6, ENST00000677389.1, ENST00000675667.1, ENST00000368300.9, ENST00000682650.1, ENST00000676385.2, ENST00000448611.6, ENST00000361308.9, ENST00000368299.7, ENST00000675939.1, ENST00000504687.7 )
LMNA p.Gly232Glu (p.G232E) ( ENST00000368299.7, ENST00000361308.9, ENST00000504687.7, ENST00000368300.9, ENST00000682650.1, ENST00000676385.2, ENST00000448611.6, ENST00000368301.6, ENST00000677389.1, ENST00000675667.1, ENST00000675939.1, ENST00000368297.5, ENST00000683032.1, ENST00000473598.6 )
LMNA p.Arg249Gly (p.R249G) ( ENST00000504687.7, ENST00000368300.9, ENST00000682650.1, ENST00000676385.2, ENST00000448611.6, ENST00000368299.7, ENST00000361308.9, ENST00000368297.5, ENST00000683032.1, ENST00000473598.6, ENST00000368301.6, ENST00000677389.1, ENST00000675939.1, ENST00000675667.1 )
LMNA p.Arg249Trp (p.R249W) ( ENST00000473598.6, ENST00000368301.6, ENST00000368300.9, ENST00000504687.7, ENST00000368297.5, ENST00000368299.7, ENST00000448611.6, ENST00000361308.9, ENST00000675667.1, ENST00000675939.1, ENST00000676385.2, ENST00000677389.1, ENST00000682650.1, ENST00000683032.1 )
LMNA p.Arg249Gln (p.R249Q) ( ENST00000448611.6, ENST00000676385.2, ENST00000504687.7, ENST00000368300.9, ENST00000682650.1, ENST00000361308.9, ENST00000368299.7, ENST00000473598.6, ENST00000683032.1, ENST00000368297.5, ENST00000675939.1, ENST00000675667.1, ENST00000677389.1, ENST00000368301.6 )
LMNA c.810+1G>A ( ENST00000368297.5, ENST00000683032.1, ENST00000473598.6, ENST00000677389.1, ENST00000368301.6, ENST00000675939.1, ENST00000675667.1, ENST00000676385.2, ENST00000368300.9, ENST00000682650.1, ENST00000504687.7, ENST00000448611.6, ENST00000368299.7, ENST00000361308.9 )
LMNA c.810+1G>C ( ENST00000368299.7, ENST00000361308.9, ENST00000448611.6, ENST00000676385.2, ENST00000504687.7, ENST00000368300.9, ENST00000682650.1, ENST00000675667.1, ENST00000675939.1, ENST00000677389.1, ENST00000368301.6, ENST00000683032.1, ENST00000473598.6, ENST00000368297.5 )
LMNA c.936+2T>C ( ENST00000473598.6, ENST00000683032.1, ENST00000368297.5, ENST00000675939.1, ENST00000675667.1, ENST00000368301.6, ENST00000677389.1, ENST00000448611.6, ENST00000368300.9, ENST00000682650.1, ENST00000504687.7, ENST00000676385.2, ENST00000361308.9, ENST00000368299.7 )
LMNA p.Glu358Lys (p.E358K) ( ENST00000368297.5, ENST00000683032.1, ENST00000473598.6, ENST00000677389.1, ENST00000368301.6, ENST00000675939.1, ENST00000675667.1, ENST00000676385.2, ENST00000368300.9, ENST00000682650.1, ENST00000504687.7, ENST00000448611.6, ENST00000368299.7, ENST00000361308.9 )
LMNA p.Glu358Ter (p.E358*) ( ENST00000683032.1, ENST00000473598.6, ENST00000368297.5, ENST00000675667.1, ENST00000675939.1, ENST00000368301.6, ENST00000677389.1, ENST00000448611.6, ENST00000368300.9, ENST00000682650.1, ENST00000504687.7, ENST00000676385.2, ENST00000368299.7, ENST00000361308.9 )
LMNA p.Arg453Trp (p.R453W) ( ENST00000368300.9, ENST00000368301.6, ENST00000368299.7, ENST00000368297.5, ENST00000448611.6, ENST00000504687.7, ENST00000361308.9, ENST00000473598.6, ENST00000675667.1, ENST00000675939.1, ENST00000676385.2, ENST00000677389.1, ENST00000682650.1, ENST00000683032.1 )
LMNA p.Arg527His (p.R527H) ( ENST00000675667.1, ENST00000675939.1, ENST00000677389.1, ENST00000368301.6, ENST00000683032.1, ENST00000473598.6, ENST00000368297.5, ENST00000368299.7, ENST00000361308.9, ENST00000448611.6, ENST00000676385.2, ENST00000504687.7, ENST00000368300.9, ENST00000682650.1 )
LMNA p.Arg527Pro (p.R527P) ( ENST00000504687.7, ENST00000368299.7, ENST00000448611.6, ENST00000368297.5, ENST00000368301.6, ENST00000368300.9, ENST00000361308.9, ENST00000473598.6, ENST00000675667.1, ENST00000675939.1, ENST00000676385.2, ENST00000677389.1, ENST00000682650.1, ENST00000683032.1 )
LMNA p.Thr528Lys (p.T528K) ( ENST00000448611.6, ENST00000676385.2, ENST00000504687.7, ENST00000368300.9, ENST00000682650.1, ENST00000361308.9, ENST00000368299.7, ENST00000473598.6, ENST00000683032.1, ENST00000368297.5, ENST00000675667.1, ENST00000675939.1, ENST00000677389.1, ENST00000368301.6 )
LMNA p.Thr528Arg (p.T528R) ( ENST00000448611.6, ENST00000368300.9, ENST00000682650.1, ENST00000504687.7, ENST00000676385.2, ENST00000368299.7, ENST00000361308.9, ENST00000683032.1, ENST00000473598.6, ENST00000368297.5, ENST00000675667.1, ENST00000675939.1, ENST00000368301.6, ENST00000677389.1 )
LMNA p.Thr528Met (p.T528M) ( ENST00000676385.2, ENST00000504687.7, ENST00000368300.9, ENST00000682650.1, ENST00000448611.6, ENST00000368299.7, ENST00000361308.9, ENST00000368297.5, ENST00000683032.1, ENST00000473598.6, ENST00000677389.1, ENST00000368301.6, ENST00000675939.1, ENST00000675667.1 )
LMNA p.Leu530Pro (p.L530P) ( ENST00000368297.5, ENST00000473598.6, ENST00000683032.1, ENST00000368301.6, ENST00000677389.1, ENST00000675939.1, ENST00000675667.1, ENST00000504687.7, ENST00000368300.9, ENST00000682650.1, ENST00000676385.2, ENST00000448611.6, ENST00000361308.9, ENST00000368299.7 )
LMNA p.Gln6Ter (p.Q6*) ( 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 )
LMNA p.His222Tyr (p.H222Y) ( 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.Arg225Gln (p.R225Q) ( 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.Gly232Glu (p.G232E) ( 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.Arg249Gly (p.R249G) ( 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.Arg249Trp (p.R249W) ( 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.Arg249Gln (p.R249Q) ( 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 c.810+1G>A ( 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 c.810+1G>C ( 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 c.936+2T>C ( 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.Glu358Lys (p.E358K) ( 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.Glu358Ter (p.E358*) ( 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.Arg453Trp (p.R453W) ( 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.Arg527His (p.R527H) ( 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.Arg527Pro (p.R527P) ( 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.Thr528Lys (p.T528K) ( 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.Thr528Arg (p.T528R) ( 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.Thr528Met (p.T528M) ( 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.Leu530Pro (p.L530P) ( 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
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.447057488674088
- Year of publication
- NA
Drugs