Annotation Detail
Information
- Associated Genes
- LMNA
- Associated Variants
-
LMNA p.Phe237Ser (p.F237S)
(
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.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.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.Arg644Ser (p.R644S) ( ENST00000675939.1, ENST00000675667.1, ENST00000683032.1, ENST00000473598.6, ENST00000368299.7, ENST00000361308.9, ENST00000448611.6, ENST00000676385.2, ENST00000504687.7, ENST00000368300.9, ENST00000682650.1 )
LMNA p.Arg644Cys (p.R644C) ( ENST00000683032.1, ENST00000473598.6, ENST00000675939.1, ENST00000675667.1, ENST00000448611.6, ENST00000676385.2, ENST00000368300.9, ENST00000682650.1, ENST00000504687.7, ENST00000368299.7, ENST00000361308.9 )
LMNA p.Phe237Ser (p.F237S) ( 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.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.Arg644Ser (p.R644S) ( ENST00000361308.9, ENST00000368299.7, ENST00000368300.9, ENST00000448611.6, ENST00000473598.6, ENST00000504687.7, ENST00000675667.1, ENST00000675939.1, ENST00000676385.2, ENST00000682650.1, ENST00000683032.1 )
LMNA p.Arg644Cys (p.R644C) ( ENST00000361308.9, ENST00000368299.7, ENST00000368300.9, ENST00000448611.6, ENST00000473598.6, ENST00000504687.7, ENST00000675667.1, ENST00000675939.1, ENST00000676385.2, ENST00000682650.1, ENST00000683032.1 ) - Associated Disease
- Cardiomyopathy, Dilated
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.297602722967599
- Year of publication
- NA
Drugs