Annotation Detail
Information
- Associated Genes
- LMNA
- Associated Variants
-
LMNA p.Arg225Gln (p.R225Q)
(
ENST00000368297.5,
ENST00000473598.6,
ENST00000683032.1,
ENST00000368301.6,
ENST00000677389.1,
ENST00000675667.1,
ENST00000368300.9,
ENST00000682650.1,
ENST00000676385.2,
ENST00000448611.6,
ENST00000361308.9,
ENST00000368299.7,
ENST00000675939.1,
ENST00000504687.7 )
LMNA p.Arg225Gln (p.R225Q) ( 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
- Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
- Source Database
- DisGeNET
- Description
- Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing.
- Pubmed
- 22431096
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.120814325616241
- Year of publication
- 2012
Drugs