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
LRRK2 G2385R and R1628P mutations are associated with an increased risk of Parkinson's disease in the Malaysian population.
Pubmed
25243190
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.4358303271146
Year of publication
2014
Drugs