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LRRK2 c.1414G>C ;(p.G472R)
Variant ID: 12-40651175-G-C
NM_198578.3(
LRRK2
):c.1414G>C;(p.G472R)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Functional Analyses of Two Novel LRRK2 Pathogenic Variants in Familial Parkinson's Disease.
Movement Disorders : Official Journal Of The Movement Disorder Society
Coku, Ilda I; Mutez, Eugénie E; Eddarkaoui, Sabiha S; Carrier, Sébastien S; Marchand, Antoine A; Deldycke, Claire C; Goveas, Liesel L; Baille, Guillaume G; Tir, Mélissa M; Magnez, Romain R; Thuru, Xavier X; Vermeersch, Gaëlle G; Vandenberghe, Wim W; Buée, Luc L; Defebvre, Luc L; Sablonnière, Bernard B; Chartier-Harlin, Marie-Christine MC; Taymans, Jean-Marc JM; Huin, Vincent V
Publication Date: 2022-08
Variant appearance in text: LRRK2: G472R
PubMed Link:
35708213
Variant Present in the following documents:
Main text
MDS-37-1761.pdf
View BVdb publication page
Mind the Gap: LRRK2 Phenotypes in the Clinic vs. in Patient Cells.
Cells
Goveas, Liesel L; Mutez, Eugénie E; Chartier-Harlin, Marie-Christine MC; Taymans, Jean-Marc JM
Publication Date: 2021-04-22
Variant appearance in text: LRRK2: G472R
PubMed Link:
33922322
Variant Present in the following documents:
Main text
View BVdb publication page