Annotation Detail
Information
- Associated Genes
- LMNA
- Associated Variants
-
PKP2 p.Arg79Ter (p.R79*)
(
ENST00000340811.9,
ENST00000700559.2,
ENST00000070846.11,
ENST00000700564.2,
ENST00000700563.2 )
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 )
PKP2 p.Arg79Ter (p.R79*) ( ENST00000070846.11, ENST00000340811.9, ENST00000700559.2, ENST00000700563.2, ENST00000700564.2 )
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
- The presumed pathogenic mutations were distributed with one case of suspected HCM and DCM (MYH7; p.R442H), one case of suspected DCM (LMNA; p.R471H), and two cases of suspected ARVC (PKP2; p.R79X and LMNA; p.R644C).
- Pubmed
- 22177269
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.297602722967599
- Year of publication
- 2012
Drugs