Annotation Detail
Information
- Associated Genes
- LMNA
- Associated Variants
-
LMNA p.Lys208del (p.K208del)
(
ENST00000676385.2,
ENST00000368300.9,
ENST00000682650.1,
ENST00000504687.7,
ENST00000448611.6,
ENST00000361308.9,
ENST00000368299.7,
ENST00000368297.5,
ENST00000473598.6,
ENST00000683032.1,
ENST00000677389.1,
ENST00000368301.6,
ENST00000675939.1,
ENST00000675667.1 )
LMNA p.Lys208del (p.K208del) ( 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.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.Tyr259Ter (p.Y259*) ( 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 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 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.Arg377His (p.R377H) ( ENST00000448611.6, ENST00000504687.7, ENST00000368299.7, ENST00000368300.9, ENST00000368301.6, ENST00000473598.6, ENST00000361308.9, ENST00000368297.5, ENST00000675667.1, ENST00000675939.1, ENST00000676385.2, ENST00000677389.1, ENST00000682650.1, ENST00000683032.1 )
LMNA p.Arg377Leu (p.R377L) ( ENST00000361308.9, ENST00000368299.7, ENST00000676385.2, ENST00000368300.9, ENST00000682650.1, ENST00000504687.7, ENST00000448611.6, ENST00000677389.1, ENST00000368301.6, ENST00000675667.1, ENST00000675939.1, ENST00000368297.5, ENST00000473598.6, ENST00000683032.1 )
LMNA p.Gln493Ter (p.Q493*) ( ENST00000676385.2, ENST00000504687.7, ENST00000368300.9, ENST00000682650.1, ENST00000448611.6, ENST00000361308.9, ENST00000368299.7, ENST00000368297.5, ENST00000473598.6, ENST00000683032.1, ENST00000677389.1, ENST00000368301.6, ENST00000675667.1, ENST00000675939.1 )
LMNA c.1608+1G>A ( ENST00000368297.5, ENST00000473598.6, ENST00000683032.1, ENST00000677389.1, ENST00000368301.6, ENST00000675667.1, ENST00000675939.1, ENST00000676385.2, ENST00000368300.9, ENST00000682650.1, ENST00000504687.7, ENST00000448611.6, ENST00000361308.9, ENST00000368299.7 )
LMNA c.1608+5G>C ( ENST00000448611.6, ENST00000676385.2, ENST00000368300.9, ENST00000682650.1, ENST00000504687.7, ENST00000368299.7, ENST00000361308.9, ENST00000683032.1, ENST00000473598.6, ENST00000368297.5, ENST00000675939.1, ENST00000675667.1, ENST00000677389.1, ENST00000368301.6 )
LMNA c.1609-3C>G ( ENST00000368297.5, ENST00000683032.1, ENST00000473598.6, ENST00000677389.1, ENST00000368301.6, ENST00000675939.1, ENST00000675667.1, ENST00000676385.2, ENST00000504687.7, ENST00000368300.9, ENST00000682650.1, ENST00000448611.6, ENST00000368299.7, ENST00000361308.9 )
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 )
LMNA p.Tyr259Ter (p.Y259*) ( 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 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.Arg377His (p.R377H) ( 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.Arg377Leu (p.R377L) ( 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.Gln493Ter (p.Q493*) ( 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.1608+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.1608+5G>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.1609-3C>G ( 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.Arg296ThrfsTer35 (p.R296Tfs*35)
LMNA p.Arg296ThrfsTer35 (p.R296Tfs*35) - Associated Disease
- MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.482985860592883
- Year of publication
- NA
Drugs