LRRK2 c.533A>C ;(p.K178T)

Variant ID: 12-40631867-A-C

NM_198578.3(LRRK2):c.533A>C;(p.K178T)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


GBA1 in Parkinson's disease: variant detection and pathogenicity scoring matters.

Bmc Genomics
Gabbert, Carolin C; Schaake, Susen S; Lüth, Theresa T; Much, Christoph C; Klein, Christine C; Aasly, Jan O JO; Farrer, Matthew J MJ; Trinh, Joanne J
Publication Date: 2023-06-13

Variant appearance in text: LRRK2: K178T
PubMed Link: 37312046
Variant Present in the following documents:
  • 12864_2023_9417_MOESM1_ESM.pdf
View BVdb publication page



Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.

The New England Journal Of Medicine
Sidransky, E E; Nalls, M A MA; Aasly, J O JO; Aharon-Peretz, J J; Annesi, G G; Barbosa, E R ER; Bar-Shira, A A; Berg, D D; Bras, J J; Brice, A A; Chen, C-M CM; Clark, L N LN; Condroyer, C C; De Marco, E V EV; Dürr, A A; Eblan, M J MJ; Fahn, S S; Farrer, M J MJ; Fung, H-C HC; Gan-Or, Z Z; Gasser, T T; Gershoni-Baruch, R R; Giladi, N N; Griffith, A A; Gurevich, T T; Januario, C C; Kropp, P P; Lang, A E AE; Lee-Chen, G-J GJ; Lesage, S S; Marder, K K; Mata, I F IF; Mirelman, A A; Mitsui, J J; Mizuta, I I; Nicoletti, G G; Oliveira, C C; Ottman, R R; Orr-Urtreger, A A; Pereira, L V LV; Quattrone, A A; Rogaeva, E E; Rolfs, A A; Rosenbaum, H H; Rozenberg, R R; Samii, A A; Samaddar, T T; Schulte, C C; Sharma, M M; Singleton, A A; Spitz, M M; Tan, E-K EK; Tayebi, N N; Toda, T T; Troiano, A R AR; Tsuji, S S; Wittstock, M M; Wolfsberg, T G TG; Wu, Y-R YR; Zabetian, C P CP; Zhao, Y Y; Ziegler, S G SG
Publication Date: 2009-10-22

Variant appearance in text: LRRK2: K178T
PubMed Link: 19846850
Variant Present in the following documents:
  • Main text
View BVdb publication page