Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

LRRK2

Gene name: leucine-rich repeat kinase 2
OMIM ID: 609007
Chromosome location: 12q12

Mutations

Disease/PhenotypeParkinson disease 8
Reference transcriptNM_198578.3
DNA Changec.6055G>A
A.A. Changep.Gly2019Ser
Exon/Intronexon 41
Mutation Typesubstitution
ReferenceIshihara L, Warren L, Gibson R, Amouri R, Lesage S, Durr A, Tazir M, Wszolek ZK, Uitti RJ, Nichols WC, Griffith A, Hattori N, Leppert D, Watts R, Zabetian CP, Foroud TM, Farrer MJ, Brice A, Middleton L, Hentati F.Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations.
Arch Neurol. 2006 Sep;63(9):1250-4.