Annotation Detail
Information
- Associated Genes
- LMNA
- Associated Variants
-
LMNA p.Arg28Gly (p.R28G)
(
ENST00000368299.7,
ENST00000361308.9,
ENST00000676385.2,
ENST00000368300.9,
ENST00000682650.1,
ENST00000675939.1,
ENST00000675667.1,
ENST00000677389.1,
ENST00000368301.6,
ENST00000683032.1 )
LMNA p.Arg28Trp (p.R28W) ( ENST00000361308.9, ENST00000368299.7, ENST00000676385.2, ENST00000368300.9, ENST00000682650.1, ENST00000677389.1, ENST00000368301.6, ENST00000675939.1, ENST00000675667.1, ENST00000683032.1 )
LMNA p.Arg62Gly (p.R62G) ( ENST00000675939.1, ENST00000675667.1, ENST00000677389.1, ENST00000368301.6, ENST00000683032.1, ENST00000361308.9, ENST00000368299.7, ENST00000676385.2, ENST00000368300.9, ENST00000682650.1 )
LMNA p.Arg28Gly (p.R28G) ( ENST00000361308.9, ENST00000368299.7, ENST00000368300.9, ENST00000368301.6, ENST00000675667.1, ENST00000675939.1, ENST00000676385.2, ENST00000677389.1, ENST00000682650.1, ENST00000683032.1 )
LMNA p.Arg28Trp (p.R28W) ( ENST00000361308.9, ENST00000368299.7, ENST00000368300.9, ENST00000368301.6, ENST00000675667.1, ENST00000675939.1, ENST00000676385.2, ENST00000677389.1, ENST00000682650.1, ENST00000683032.1 )
LMNA p.Arg62Gly (p.R62G) ( ENST00000361308.9, ENST00000368299.7, ENST00000368300.9, ENST00000368301.6, ENST00000675667.1, ENST00000675939.1, ENST00000676385.2, ENST00000677389.1, ENST00000682650.1, ENST00000683032.1 ) - Associated Disease
- Familial Partial Lipodystrophy, Type 2
- Source Database
- DisGeNET
- Description
- Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene.
- Pubmed
- 12015247
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.361900093104562
- Year of publication
- 2002
Drugs