Annotation Detail
Information
- Associated Genes
- LMNA
- Associated Variants
-
LMNA p.Arg582His (p.R582H)
(
ENST00000675939.1,
ENST00000675667.1,
ENST00000683032.1,
ENST00000473598.6,
ENST00000368299.7,
ENST00000361308.9,
ENST00000676385.2,
ENST00000504687.7,
ENST00000368300.9,
ENST00000682650.1,
ENST00000448611.6 )
LMNA p.Arg582His (p.R582H) ( ENST00000361308.9, ENST00000368299.7, ENST00000368300.9, ENST00000448611.6, ENST00000473598.6, ENST00000504687.7, ENST00000675667.1, ENST00000675939.1, ENST00000676385.2, ENST00000682650.1, ENST00000683032.1 ) - Associated Disease
- Familial Partial Lipodystrophy, Type 2
- Source Database
- DisGeNET
- Description
- Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C.
- Pubmed
- 10739751
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.361900093104562
- Year of publication
- 2000
Drugs