Annotation Detail
Information
- Associated Genes
- LRRK2
- Associated Variants
-
LRRK2 p.Arg1441His (p.R1441H)
(
ENST00000680790.1,
ENST00000298910.12 )
LRRK2 p.Arg1441His (p.R1441H) ( ENST00000298910.12, ENST00000680790.1 ) - Associated Disease
- Parkinson disease
- Source Database
- DisGeNET
- Description
- Parkinson disease-associated mutation R1441H in LRRK2 prolongs the active state of its GTPase domain.
- Pubmed
- 24591621
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.4358303271146
- Year of publication
- 2014
Drugs