Annotation Detail

Information
Associated Genes
LRRK2
Associated Variants
LRRK2 p.Arg1628His (p.R1628H) ( ENST00000298910.12, ENST00000680790.1 )
LRRK2 p.Arg1628Pro (p.R1628P) ( ENST00000298910.12, ENST00000680790.1 )
LRRK2 p.Arg1628Leu (p.R1628L) ( ENST00000680790.1, ENST00000298910.12 )
LRRK2 p.Gly2385Arg (p.G2385R) ( ENST00000298910.12, ENST00000680790.1 )
LRRK2 p.Arg1628His (p.R1628H) ( ENST00000298910.12, ENST00000680790.1 )
LRRK2 p.Arg1628Pro (p.R1628P) ( ENST00000298910.12, ENST00000680790.1 )
LRRK2 p.Arg1628Leu (p.R1628L) ( ENST00000298910.12, ENST00000680790.1 )
LRRK2 p.Gly2385Arg (p.G2385R) ( ENST00000298910.12, ENST00000680790.1 )
Associated Disease
Parkinson disease
Source Database
DisGeNET
Description
The R1628P and G2385R polymorphisms of the LRRK2 gene have been identified as exclusively associated with PD in Asian populations, particularly in Han Chinese population.
Pubmed
25511328
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.4358303271146
Year of publication
2014
Drugs