Annotation Detail
Information
- Associated Genes
- LRRK2
- Associated Variants
-
LRRK2 p.Arg1441Gly (p.R1441G)
(
ENST00000298910.12,
ENST00000680790.1 )
LRRK2 p.Arg1441Cys (p.R1441C) ( ENST00000680790.1, ENST00000298910.12 )
LRRK2 p.Arg1441Gly (p.R1441G) ( ENST00000298910.12, ENST00000680790.1 )
LRRK2 p.Arg1441Cys (p.R1441C) ( ENST00000298910.12, ENST00000680790.1 ) - Associated Disease
- Autosomal Dominant Parkinsonism
- Source Database
- DisGeNET
- Description
- The Roc domain of the Lrrk2 protein harbors two pathogenic mutations which cause autosomal dominant parkinsonism (R1441C and R1441G).
- Pubmed
- 18952485
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00407162808120455
- Year of publication
- 2009
Drugs