Bibliome.ai browser hg19
Search
About
Stats
FAQ
LRRK2 c.4536+3A>G
Variant ID: 12-40704454-A-G
NM_198578.3(
LRRK2
):c.4536+3A>G
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:
A genetic analysis of a Spanish population with early onset Parkinson's disease.
Plos One
Cristina, Tejera-Parrado TP; Pablo, Mir M; Teresa, Periñán María PM; Lydia, Vela-Desojo VD; Irene, Abreu-Rodríguez AR; Araceli, Alonso-Cánovas AC; Inmaculada, Bernal-Bernal BB; Marta, Bonilla-Toribio BT; Dolores, Buiza-Rueda BR; José, Catalán-Alonso María CM; Rocío, García-Ramos GR; José, García-Ruiz Pedro GP; Ismael, Huertas-Fernández HF; Silvia, Jesús J; Labrador, Miguel A-Espinosa MA; Lydia, López-Manzanares LM; Carlos, Martínez-Castrillo Juan MJ; Posada, Ignacio J IJ; Ana, Rojo-Sebastián RS; Cristina, Ruiz-Huete RH; Javier, Del Val DV; Gómez-Garre, Pilar P
Publication Date: 2020
Variant appearance in text: LRRK2: 4536+3A>G; rs41286476
PubMed Link:
32870915
Variant Present in the following documents:
Main text
pone.0238098.s004.pdf
pone.0238098.pdf
pone.0238098.s005.pdf
View BVdb publication page
Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update.
Human Mutation
Nuytemans, Karen K; Theuns, Jessie J; Cruts, Marc M; Van Broeckhoven, Christine C
Publication Date: 2010-07
Variant appearance in text: rs41286476
PubMed Link:
20506312
Variant Present in the following documents:
humu0031-0763-SD1.pdf
View BVdb publication page