LRRK2 c.338G>C ;(p.G113A)

Variant ID: 12-40626176-G-C

NM_198578.3(LRRK2):c.338G>C;(p.G113A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


GBA-associated PD: chances and obstacles for targeted treatment strategies.

Journal Of Neural Transmission (Vienna, Austria : 1996)
Höglinger, Günter G; Schulte, Claudia C; Jost, Wolfgang H WH; Storch, Alexander A; Woitalla, Dirk D; Krüger, Rejko R; Falkenburger, Björn B; Brockmann, Kathrin K
Publication Date: 2022-09

Variant appearance in text: LRRK2: G113A
PubMed Link: 35639160
Variant Present in the following documents:
  • Main text
View BVdb publication page



The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease.

Movement Disorders : Official Journal Of The Movement Disorder Society
Duran, Raquel R; Mencacci, Niccolo E NE; Angeli, Aikaterini V AV; Shoai, Maryam M; Deas, Emma E; Houlden, Henry H; Mehta, Atul A; Hughes, Derralynn D; Cox, Timothy M TM; Deegan, Patrick P; Schapira, Anthony H AH; Lees, Andrew J AJ; Limousin, Patricia P; Jarman, Paul R PR; Bhatia, Kailash P KP; Wood, Nicholas W NW; Hardy, John J; Foltynie, Tom T
Publication Date: 2013-02

Variant appearance in text: LRRK2: G113A
PubMed Link: 23225227
Variant Present in the following documents:
  • Main text
View BVdb publication page