LRRK2 c.571+194T>G

Variant ID: 12-40632099-T-G

NM_198578.3(LRRK2):c.571+194T>G

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Genetic analysis of Mendelian mutations in a large UK population-based Parkinson's disease study.

Brain : A Journal Of Neurology
Tan, Manuela M X MMX; Malek, Naveed N; Lawton, Michael A MA; Hubbard, Leon L; Pittman, Alan M AM; Joseph, Theresita T; Hehir, Jason J; Swallow, Diane M A DMA; Grosset, Katherine A KA; Marrinan, Sarah L SL; Bajaj, Nin N; Barker, Roger A RA; Burn, David J DJ; Bresner, Catherine C; Foltynie, Thomas T; Hardy, John J; Wood, Nicholas N; Ben-Shlomo, Yoav Y; Grosset, Donald G DG; Williams, Nigel M NM; Morris, Huw R HR
Publication Date: 2019-09-01

Variant appearance in text: rs10878246
PubMed Link: 31324919
Variant Present in the following documents:
  • awz191_supplementary_data.pdf
View BVdb publication page



Common variation in the LRRK2 gene is a risk factor for Parkinson's disease.

Movement Disorders : Official Journal Of The Movement Disorder Society
Mata, Ignacio F IF; Checkoway, Harvey H; Hutter, Carolyn M CM; Samii, Ali A; Roberts, John W JW; Kim, Hojoong M HM; Agarwal, Pinky P; Alvarez, Victoria V; Ribacoba, Renee R; Pastor, Pau P; Lorenzo-Betancor, Oswaldo O; Infante, Jon J; Sierra, María M; Gómez-Garre, Pilar P; Mir, Pablo P; Ritz, Beate B; Rhodes, Shannon L SL; Colcher, Amy A; Van Deerlin, Vivianna V; Chung, Kathryn A KA; Quinn, Joseph F JF; Yearout, Dora D; Martinez, Erica E; Farin, Federico M FM; Wan, Jia Y JY; Edwards, Karen L KL; Zabetian, Cyrus P CP
Publication Date: 2012-12

Variant appearance in text: rs10878246
PubMed Link: 23115130
Variant Present in the following documents:
  • Main text
View BVdb publication page



Parkinson's disease and low frequency alleles found together throughout LRRK2.

Annals Of Human Genetics
Paisán-Ruiz, Coro C; Washecka, Nicole N; Nath, Priti P; Singleton, Andrew B AB; Corder, Elizabeth H EH
Publication Date: 2009-07

Variant appearance in text: rs10878246
PubMed Link: 19489756
Variant Present in the following documents:
  • Main text
View BVdb publication page



Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism.

Parkinsonism & Related Disorders
Ross, Owen A OA; Spanaki, Cleanthe C; Griffith, Alida A; Lin, Chin-Hsien CH; Kachergus, Jennifer J; Haugarvoll, Kristoffer K; Latsoudis, Helen H; Plaitakis, Andreas A; Ferreira, Joaquim J JJ; Sampaio, Cristina C; Bonifati, Vincenzo V; Wu, Ruey-Meei RM; Zabetian, Cyrus P CP; Farrer, Matthew J MJ
Publication Date: 2009-07

Variant appearance in text: rs10878246
PubMed Link: 18952485
Variant Present in the following documents:
  • Main text
View BVdb publication page