Annotation Detail
Information
- Associated Genes
- LRRK2
- Associated Variants
-
LRRK2 p.Val1450Ile (p.V1450I)
(
ENST00000298910.12,
ENST00000680790.1 )
LRRK2 p.Gly2385Arg (p.G2385R) ( ENST00000298910.12, ENST00000680790.1 )
LRRK2 p.Val1450Ile (p.V1450I) ( ENST00000298910.12, ENST00000680790.1 )
LRRK2 p.Gly2385Arg (p.G2385R) ( ENST00000298910.12, ENST00000680790.1 ) - Associated Disease
- Parkinsonian Disorders
- Source Database
- DisGeNET
- Description
- In addition, we found that the proband and his mother carried the G2385R variant of the LRRK2, a strong risk factor for PD in Asians and the rare V1450I variant, although only the proband showed symptoms of parkinsonism.
- Pubmed
- 23124679
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.159157150231213
- Year of publication
- 2013
Drugs