Annotation Detail
Information
- Associated Genes
- LMNA
- Associated Variants
-
LMNA p.Gln255ArgfsTer225 (p.Q255Rfs*225)
(
ENST00000361308.9,
ENST00000368299.7,
ENST00000448611.6,
ENST00000676385.2,
ENST00000368300.9,
ENST00000682650.1,
ENST00000504687.7,
ENST00000675939.1,
ENST00000675667.1,
ENST00000677389.1,
ENST00000368301.6,
ENST00000473598.6,
ENST00000683032.1,
ENST00000368297.5 )
LMNA p.Lys261del (p.K261del) ( ENST00000676385.2, ENST00000504687.7, ENST00000368300.9, ENST00000682650.1, ENST00000448611.6, ENST00000368299.7, ENST00000361308.9, ENST00000368297.5, ENST00000683032.1, ENST00000473598.6, ENST00000677389.1, ENST00000368301.6, ENST00000675667.1, ENST00000675939.1 )
LMNA p.Leu320PhefsTer160 (p.L320Ffs*160) ( ENST00000368300.9, ENST00000682650.1, ENST00000504687.7, ENST00000676385.2, ENST00000448611.6, ENST00000361308.9, ENST00000368299.7, ENST00000368297.5, ENST00000473598.6, ENST00000683032.1, ENST00000368301.6, ENST00000677389.1, ENST00000675939.1, ENST00000675667.1 )
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.Met371_Ala375del (p.M371_A375del) ( ENST00000361308.9, ENST00000368299.7, ENST00000448611.6, ENST00000504687.7, ENST00000368300.9, ENST00000682650.1, ENST00000676385.2, ENST00000675939.1, ENST00000675667.1, ENST00000368301.6, ENST00000677389.1, ENST00000473598.6, ENST00000683032.1, ENST00000368297.5 )
LMNA p.Ala434Ter (p.A434*) ( ENST00000368299.7, ENST00000361308.9, ENST00000676385.2, ENST00000504687.7, ENST00000368300.9, ENST00000682650.1, ENST00000448611.6, ENST00000677389.1, ENST00000368301.6, ENST00000675939.1, ENST00000675667.1, ENST00000368297.5, ENST00000683032.1, ENST00000473598.6 )
LMNA p.Gln255ArgfsTer225 (p.Q255Rfs*225) ( 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.Lys261del (p.K261del) ( 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.Leu320PhefsTer160 (p.L320Ffs*160) ( 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.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.Met371_Ala375del (p.M371_A375del) ( 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.Ala434Ter (p.A434*) ( 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.Thr10Ile (p.T10I) ( ENST00000368300.9, ENST00000368301.6, ENST00000368299.7, ENST00000361308.9, ENST00000675667.1, ENST00000675939.1, ENST00000676385.2, ENST00000677389.1, ENST00000682650.1, ENST00000683032.1 )
LMNA p.Leu52Val (p.L52V) ( ENST00000676385.2, ENST00000368300.9, ENST00000682650.1, ENST00000361308.9, ENST00000368299.7, ENST00000683032.1, ENST00000675667.1, ENST00000675939.1, ENST00000677389.1, ENST00000368301.6 )
LMNA p.Arg60Gly (p.R60G) ( ENST00000675939.1, ENST00000675667.1, ENST00000368301.6, ENST00000677389.1, ENST00000683032.1, ENST00000368299.7, ENST00000361308.9, ENST00000368300.9, ENST00000682650.1, ENST00000676385.2 )
LMNA p.Arg60Cys (p.R60C) ( ENST00000675667.1, ENST00000675939.1, ENST00000677389.1, ENST00000368301.6, ENST00000683032.1, ENST00000361308.9, ENST00000368299.7, ENST00000676385.2, ENST00000368300.9, ENST00000682650.1 )
LMNA p.Glu82Lys (p.E82K) ( ENST00000368299.7, ENST00000361308.9, ENST00000676385.2, ENST00000368300.9, ENST00000682650.1, ENST00000677389.1, ENST00000368301.6, ENST00000675939.1, ENST00000675667.1, ENST00000683032.1 )
LMNA p.Leu85Arg (p.L85R) ( ENST00000676385.2, ENST00000368300.9, ENST00000682650.1, ENST00000361308.9, ENST00000368299.7, ENST00000683032.1, ENST00000677389.1, ENST00000368301.6, ENST00000675939.1, ENST00000675667.1 )
LMNA p.Thr150Pro (p.T150P) ( ENST00000368301.6, ENST00000677389.1, ENST00000675939.1, ENST00000675667.1, ENST00000368297.5, ENST00000473598.6, ENST00000683032.1, ENST00000361308.9, ENST00000368299.7, ENST00000504687.7, ENST00000368300.9, ENST00000682650.1, ENST00000676385.2, ENST00000448611.6 )
LMNA p.Thr150Ala (p.T150A) ( ENST00000677389.1, ENST00000368301.6, ENST00000675939.1, ENST00000675667.1, ENST00000368297.5, ENST00000683032.1, ENST00000473598.6, ENST00000368299.7, ENST00000361308.9, ENST00000676385.2, ENST00000504687.7, ENST00000368300.9, ENST00000682650.1, ENST00000448611.6 )
LMNA p.Glu161Lys (p.E161K) ( ENST00000368299.7, ENST00000361308.9, ENST00000676385.2, ENST00000368300.9, ENST00000682650.1, ENST00000504687.7, ENST00000448611.6, ENST00000677389.1, ENST00000368301.6, ENST00000675939.1, ENST00000675667.1, ENST00000368297.5, ENST00000683032.1, ENST00000473598.6 )
LMNA p.Leu162Pro (p.L162P) ( ENST00000368299.7, ENST00000361308.9, ENST00000448611.6, ENST00000676385.2, ENST00000368300.9, ENST00000682650.1, ENST00000504687.7, ENST00000675667.1, ENST00000675939.1, ENST00000677389.1, ENST00000368301.6, ENST00000683032.1, ENST00000473598.6, ENST00000368297.5 )
LMNA c.513+1G>C ( ENST00000368299.7, ENST00000361308.9, ENST00000676385.2, ENST00000368300.9, ENST00000682650.1, ENST00000504687.7, ENST00000448611.6, ENST00000677389.1, ENST00000368301.6, ENST00000675667.1, ENST00000675939.1, ENST00000368297.5, ENST00000683032.1, ENST00000473598.6 )
LMNA p.Arg190Trp (p.R190W) ( ENST00000368301.6, ENST00000368300.9, ENST00000368297.5, ENST00000368299.7, ENST00000448611.6, ENST00000504687.7, ENST00000473598.6, ENST00000361308.9, ENST00000675667.1, ENST00000675939.1, ENST00000676385.2, ENST00000677389.1, ENST00000682650.1, ENST00000683032.1 )
LMNA p.Asn195Lys (p.N195K) ( ENST00000448611.6, ENST00000504687.7, ENST00000368300.9, ENST00000682650.1, ENST00000676385.2, ENST00000368299.7, ENST00000361308.9, ENST00000683032.1, ENST00000473598.6, ENST00000368297.5, ENST00000675667.1, ENST00000675939.1, ENST00000368301.6, ENST00000677389.1 )
LMNA p.Asn195Lys (p.N195K) ( ENST00000504687.7, ENST00000368300.9, ENST00000682650.1, ENST00000676385.2, ENST00000448611.6, ENST00000361308.9, ENST00000368299.7, ENST00000368297.5, ENST00000473598.6, ENST00000683032.1, ENST00000368301.6, ENST00000677389.1, ENST00000675939.1, ENST00000675667.1 )
LMNA p.Glu203Lys (p.E203K) ( ENST00000361308.9, ENST00000368299.7, ENST00000676385.2, ENST00000504687.7, ENST00000368300.9, ENST00000682650.1, ENST00000448611.6, ENST00000677389.1, ENST00000368301.6, ENST00000675667.1, ENST00000675939.1, ENST00000368297.5, ENST00000473598.6, ENST00000683032.1 )
LMNA p.Glu203Gly (p.E203G) ( ENST00000368300.9, ENST00000682650.1, ENST00000504687.7, ENST00000676385.2, ENST00000448611.6, ENST00000361308.9, ENST00000368299.7, ENST00000368297.5, ENST00000473598.6, ENST00000683032.1, ENST00000368301.6, ENST00000677389.1, ENST00000675939.1, ENST00000675667.1 )
LMNA p.Glu203Val (p.E203V) ( ENST00000677389.1, ENST00000368301.6, ENST00000675667.1, ENST00000675939.1, ENST00000368297.5, ENST00000683032.1, ENST00000473598.6, ENST00000368299.7, ENST00000361308.9, ENST00000676385.2, ENST00000504687.7, ENST00000368300.9, ENST00000682650.1, ENST00000448611.6 )
LMNA p.Leu215Pro (p.L215P) ( ENST00000361308.9, ENST00000368299.7, ENST00000448611.6, ENST00000676385.2, ENST00000368300.9, ENST00000682650.1, ENST00000504687.7, ENST00000675939.1, ENST00000675667.1, ENST00000677389.1, ENST00000368301.6, ENST00000473598.6, ENST00000683032.1, ENST00000368297.5 )
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.Gln234Ter (p.Q234*) ( ENST00000368301.6, ENST00000677389.1, ENST00000675939.1, ENST00000675667.1, ENST00000368297.5, ENST00000473598.6, ENST00000683032.1, ENST00000361308.9, ENST00000368299.7, ENST00000368300.9, ENST00000682650.1, ENST00000504687.7, ENST00000676385.2, ENST00000448611.6 )
LMNA p.Ala242Val (p.A242V) ( ENST00000368299.7, ENST00000361308.9, ENST00000676385.2, ENST00000504687.7, ENST00000368300.9, ENST00000682650.1, ENST00000448611.6, ENST00000677389.1, ENST00000368301.6, ENST00000675667.1, ENST00000675939.1, ENST00000368297.5, ENST00000683032.1, ENST00000473598.6 )
LMNA p.Ala250Val (p.A250V) ( ENST00000368297.5, ENST00000683032.1, ENST00000473598.6, ENST00000368301.6, ENST00000677389.1, ENST00000675939.1, ENST00000675667.1, ENST00000504687.7, ENST00000368300.9, ENST00000682650.1, ENST00000676385.2, ENST00000448611.6, ENST00000368299.7, ENST00000361308.9 )
LMNA p.Glu262Ter (p.E262*) ( ENST00000368301.6, ENST00000677389.1, ENST00000675667.1, ENST00000675939.1, ENST00000368297.5, ENST00000683032.1, ENST00000473598.6, ENST00000368299.7, ENST00000361308.9, ENST00000368300.9, ENST00000682650.1, ENST00000504687.7, ENST00000676385.2, ENST00000448611.6 )
LMNA p.Tyr267His (p.Y267H) ( ENST00000683032.1, ENST00000473598.6, ENST00000368297.5, ENST00000675667.1, ENST00000675939.1, ENST00000368301.6, ENST00000677389.1, ENST00000448611.6, ENST00000504687.7, ENST00000368300.9, ENST00000682650.1, ENST00000676385.2, ENST00000368299.7, ENST00000361308.9 )
LMNA p.Ala288Gly (p.A288G) ( ENST00000675667.1, ENST00000675939.1, ENST00000677389.1, ENST00000368301.6, ENST00000473598.6, ENST00000683032.1, ENST00000368297.5, ENST00000361308.9, ENST00000368299.7, ENST00000448611.6, ENST00000676385.2, ENST00000368300.9, ENST00000682650.1, ENST00000504687.7 )
LMNA p.Glu317Lys (p.E317K) ( ENST00000683032.1, ENST00000473598.6, ENST00000368297.5, ENST00000675939.1, ENST00000675667.1, ENST00000677389.1, ENST00000368301.6, ENST00000448611.6, ENST00000676385.2, ENST00000368300.9, ENST00000682650.1, ENST00000504687.7, ENST00000368299.7, ENST00000361308.9 )
LMNA p.Arg321Ter (p.R321*) ( ENST00000368299.7, ENST00000368301.6, ENST00000361308.9, ENST00000676385.2, ENST00000504687.7, ENST00000368300.9, ENST00000682650.1, ENST00000448611.6, ENST00000677389.1, ENST00000675667.1, ENST00000675939.1, ENST00000368297.5, ENST00000683032.1, ENST00000473598.6 )
LMNA p.Ser326Thr (p.S326T) ( ENST00000683032.1, ENST00000473598.6, ENST00000368297.5, ENST00000675939.1, ENST00000675667.1, ENST00000677389.1, ENST00000368301.6, ENST00000448611.6, ENST00000676385.2, ENST00000368300.9, ENST00000682650.1, ENST00000504687.7, ENST00000368299.7, ENST00000361308.9 )
LMNA p.Arg331Gln (p.R331Q) ( ENST00000361308.9, ENST00000368299.7, ENST00000448611.6, ENST00000368300.9, ENST00000682650.1, ENST00000504687.7, ENST00000676385.2, ENST00000675939.1, ENST00000675667.1, ENST00000368301.6, ENST00000677389.1, ENST00000473598.6, ENST00000683032.1, ENST00000368297.5 )
LMNA p.Arg331Pro (p.R331P) ( ENST00000448611.6, ENST00000676385.2, ENST00000504687.7, ENST00000368300.9, ENST00000682650.1, ENST00000368299.7, ENST00000361308.9, ENST00000683032.1, ENST00000473598.6, ENST00000368297.5, ENST00000675667.1, ENST00000675939.1, ENST00000677389.1, ENST00000368301.6 )
LMNA p.Arg335= (p.R335=) ( ENST00000683032.1, ENST00000473598.6, ENST00000368297.5, ENST00000675939.1, ENST00000675667.1, ENST00000677389.1, ENST00000368301.6, ENST00000448611.6, ENST00000676385.2, ENST00000504687.7, ENST00000368300.9, ENST00000682650.1, ENST00000368299.7, ENST00000361308.9 )
LMNA p.Arg335Trp (p.R335W) ( ENST00000368299.7, ENST00000361308.9, ENST00000368300.9, ENST00000682650.1, ENST00000504687.7, ENST00000676385.2, ENST00000448611.6, ENST00000368301.6, ENST00000677389.1, ENST00000675667.1, ENST00000675939.1, ENST00000368297.5, ENST00000683032.1, ENST00000473598.6 )
LMNA p.Leu369Pro (p.L369P) ( ENST00000683032.1, ENST00000473598.6, ENST00000368297.5, ENST00000675667.1, ENST00000675939.1, ENST00000677389.1, ENST00000368301.6, ENST00000448611.6, ENST00000676385.2, ENST00000504687.7, ENST00000368300.9, ENST00000682650.1, ENST00000368299.7, ENST00000361308.9 )
LMNA p.Arg377Cys (p.R377C) ( ENST00000448611.6, ENST00000504687.7, ENST00000368300.9, ENST00000682650.1, ENST00000676385.2, ENST00000368299.7, ENST00000361308.9, ENST00000683032.1, ENST00000473598.6, ENST00000368297.5, ENST00000675939.1, ENST00000675667.1, ENST00000368301.6, ENST00000677389.1 )
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.Gly382= (p.G382=) ( ENST00000361308.9, ENST00000368299.7, ENST00000448611.6, ENST00000676385.2, ENST00000504687.7, ENST00000368300.9, ENST00000682650.1, ENST00000675939.1, ENST00000675667.1, ENST00000677389.1, ENST00000368301.6, ENST00000473598.6, ENST00000683032.1, ENST00000368297.5 )
LMNA p.Arg435Cys (p.R435C) ( 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.Arg471His (p.R471H) ( ENST00000448611.6, ENST00000676385.2, ENST00000368297.5, ENST00000361308.9, ENST00000368299.7, ENST00000504687.7, ENST00000368300.9, ENST00000682650.1, ENST00000675667.1, ENST00000675939.1, ENST00000677389.1, ENST00000368301.6, ENST00000473598.6, ENST00000683032.1 )
LMNA p.Tyr481Cys (p.Y481C) ( ENST00000368299.7, ENST00000361308.9, ENST00000448611.6, ENST00000676385.2, ENST00000504687.7, ENST00000368300.9, ENST00000682650.1, ENST00000675939.1, ENST00000675667.1, ENST00000677389.1, ENST00000368301.6, ENST00000683032.1, ENST00000473598.6, ENST00000368297.5 )
LMNA p.Arg482Gln (p.R482Q) ( ENST00000368299.7, ENST00000361308.9, ENST00000368300.9, ENST00000682650.1, ENST00000504687.7, ENST00000676385.2, ENST00000448611.6, ENST00000368301.6, ENST00000677389.1, ENST00000675667.1, ENST00000675939.1, ENST00000368297.5, ENST00000683032.1, ENST00000473598.6 )
LMNA p.Arg482Leu (p.R482L) ( 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 c.1609-1G>A ( ENST00000368297.5, ENST00000473598.6, ENST00000683032.1, ENST00000677389.1, ENST00000368301.6, ENST00000675939.1, ENST00000675667.1, ENST00000676385.2, ENST00000504687.7, ENST00000368300.9, ENST00000682650.1, ENST00000448611.6, ENST00000361308.9, ENST00000368299.7 )
LMNA c.1609-1G>C ( ENST00000676385.2, ENST00000504687.7, ENST00000368300.9, ENST00000682650.1, ENST00000448611.6, ENST00000361308.9, ENST00000368299.7, ENST00000368297.5, ENST00000473598.6, ENST00000683032.1, ENST00000677389.1, ENST00000368301.6, ENST00000675939.1, ENST00000675667.1 )
LMNA p.Arg541Ser (p.R541S) ( ENST00000361308.9, ENST00000368299.7, ENST00000504687.7, ENST00000368300.9, ENST00000682650.1, ENST00000676385.2, ENST00000448611.6, ENST00000368301.6, ENST00000677389.1, ENST00000675939.1, ENST00000675667.1, ENST00000368297.5, ENST00000473598.6, ENST00000683032.1 )
LMNA p.Arg541Gly (p.R541G) ( ENST00000368297.5, ENST00000683032.1, ENST00000473598.6, ENST00000677389.1, ENST00000368301.6, ENST00000675667.1, ENST00000675939.1, ENST00000676385.2, ENST00000504687.7, ENST00000368300.9, ENST00000682650.1, ENST00000448611.6, ENST00000368299.7, ENST00000361308.9 )
LMNA p.Arg541Cys (p.R541C) ( ENST00000361308.9, ENST00000368299.7, ENST00000448611.6, ENST00000504687.7, ENST00000368300.9, ENST00000682650.1, ENST00000676385.2, ENST00000675667.1, ENST00000675939.1, ENST00000368301.6, ENST00000677389.1, ENST00000473598.6, ENST00000683032.1, ENST00000368297.5 )
LMNA c.1698+13C>A ( ENST00000361308.9, ENST00000368299.7, ENST00000676385.2, ENST00000504687.7, ENST00000368300.9, ENST00000682650.1, ENST00000448611.6, ENST00000677389.1, ENST00000368301.6, ENST00000675939.1, ENST00000675667.1, ENST00000368297.5, ENST00000473598.6, ENST00000683032.1 )
LMNA c.1698+13C>T ( ENST00000368300.9, ENST00000682650.1, ENST00000504687.7, ENST00000676385.2, ENST00000448611.6, ENST00000368299.7, ENST00000361308.9, ENST00000368297.5, ENST00000683032.1, ENST00000473598.6, ENST00000368301.6, ENST00000677389.1, ENST00000675667.1, ENST00000675939.1 )
LMNA p.Ser573Leu (p.S573L) ( ENST00000675939.1, ENST00000675667.1, ENST00000473598.6, ENST00000683032.1, ENST00000361308.9, ENST00000368299.7, ENST00000448611.6, ENST00000504687.7, ENST00000368300.9, ENST00000682650.1, ENST00000676385.2 )
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.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.Thr10Ile (p.T10I) ( ENST00000368301.6, ENST00000368299.7, ENST00000368300.9, ENST00000361308.9, ENST00000675667.1, ENST00000675939.1, ENST00000676385.2, ENST00000677389.1, ENST00000682650.1, ENST00000683032.1 )
LMNA p.Leu52Val (p.L52V) ( ENST00000361308.9, ENST00000368299.7, ENST00000368300.9, ENST00000368301.6, ENST00000675667.1, ENST00000675939.1, ENST00000676385.2, ENST00000677389.1, ENST00000682650.1, ENST00000683032.1 )
LMNA p.Arg60Gly (p.R60G) ( ENST00000361308.9, ENST00000368299.7, ENST00000368300.9, ENST00000368301.6, ENST00000675667.1, ENST00000675939.1, ENST00000676385.2, ENST00000677389.1, ENST00000682650.1, ENST00000683032.1 )
LMNA p.Arg60Cys (p.R60C) ( ENST00000361308.9, ENST00000368299.7, ENST00000368300.9, ENST00000368301.6, ENST00000675667.1, ENST00000675939.1, ENST00000676385.2, ENST00000677389.1, ENST00000682650.1, ENST00000683032.1 )
LMNA p.Glu82Lys (p.E82K) ( ENST00000361308.9, ENST00000368299.7, ENST00000368300.9, ENST00000368301.6, ENST00000675667.1, ENST00000675939.1, ENST00000676385.2, ENST00000677389.1, ENST00000682650.1, ENST00000683032.1 )
LMNA p.Leu85Arg (p.L85R) ( ENST00000361308.9, ENST00000368299.7, ENST00000368300.9, ENST00000368301.6, ENST00000675667.1, ENST00000675939.1, ENST00000676385.2, ENST00000677389.1, ENST00000682650.1, ENST00000683032.1 )
LMNA p.Thr150Pro (p.T150P) ( 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.Thr150Ala (p.T150A) ( 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.Glu161Lys (p.E161K) ( 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.Leu162Pro (p.L162P) ( 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.513+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.Arg190Trp (p.R190W) ( 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.Asn195Lys (p.N195K) ( 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.Asn195Lys (p.N195K) ( 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.Glu203Lys (p.E203K) ( 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.Glu203Gly (p.E203G) ( 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.Glu203Val (p.E203V) ( ENST00000683032.1, 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 )
LMNA p.Leu215Pro (p.L215P) ( 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, 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.Gln234Ter (p.Q234*) ( 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.Ala242Val (p.A242V) ( 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.Ala250Val (p.A250V) ( 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.Glu262Ter (p.E262*) ( 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.Tyr267His (p.Y267H) ( 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.Ala288Gly (p.A288G) ( 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.Glu317Lys (p.E317K) ( 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.Arg321Ter (p.R321*) ( 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.Ser326Thr (p.S326T) ( 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.Arg331Gln (p.R331Q) ( 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.Arg331Pro (p.R331P) ( 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.Arg335= (p.R335=) ( 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.Arg335Trp (p.R335W) ( 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.Leu369Pro (p.L369P) ( 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.Arg377Cys (p.R377C) ( 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.Gly382= (p.G382=) ( 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.Arg435Cys (p.R435C) ( 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.Arg471His (p.R471H) ( 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.Tyr481Cys (p.Y481C) ( 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.Arg482Gln (p.R482Q) ( 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.Arg482Leu (p.R482L) ( 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.1609-1G>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.1609-1G>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.Arg541Ser (p.R541S) ( 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.Arg541Gly (p.R541G) ( 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.Arg541Cys (p.R541C) ( 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.1698+13C>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.1698+13C>T ( ENST00000504687.7, ENST00000675667.1, ENST00000675939.1, ENST00000676385.2, ENST00000677389.1, ENST00000682650.1, ENST00000683032.1, ENST00000361308.9, ENST00000368297.5, ENST00000368299.7, ENST00000368300.9, ENST00000368301.6, ENST00000448611.6, ENST00000473598.6 )
LMNA p.Ser573Leu (p.S573L) ( ENST00000361308.9, ENST00000368299.7, ENST00000368300.9, ENST00000448611.6, ENST00000473598.6, ENST00000504687.7, ENST00000675667.1, ENST00000675939.1, ENST00000676385.2, ENST00000682650.1, 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 )
LMNA p.Lys117GlufsTer10 (p.K117Efs*10)
LMNA p.Glu372ValfsTer55 (p.E372Vfs*55)
LMNA p.Thr510TyrfsTer42 (p.T510Yfs*42)
LMNA p.Lys117GlufsTer10 (p.K117Efs*10)
LMNA p.Glu372ValfsTer55 (p.E372Vfs*55)
LMNA p.Thr510TyrfsTer42 (p.T510Yfs*42) - Associated Disease
- Cardiomyopathy, Familial Idiopathic
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.442909915722763
- Year of publication
- NA
Drugs