Annotation Detail
Information
- Associated Genes
- LMNA
- Associated Variants
-
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 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 ) - Associated Disease
- Dyslipidemias
- Source Database
- DisGeNET
- Description
- FPLD was recently discovered to result from mutated LMNA (R482Q; OMIM #150330.0010), which is the gene encoding nuclear lamins A and C. Results from extended pedigrees indicate that dyslipidemia precedes the plasma glucose abnormalities in FPLD subjects with mutant LMNA, and that the hyperinsulinemia is present early in the course of the disease.
- Pubmed
- 11122771
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00190009310456212
- Year of publication
- 2000
Drugs