LRRK2 c.4358A>G ;(p.H1453R)

Variant ID: 12-40704273-A-G

NM_198578.3(LRRK2):c.4358A>G;(p.H1453R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations.

Nature Genetics
Buczkowicz, Pawel P; Hoeman, Christine C; Rakopoulos, Patricia P; Pajovic, Sanja S; Letourneau, Louis L; Dzamba, Misko M; Morrison, Andrew A; Lewis, Peter P; Bouffet, Eric E; Bartels, Ute U; Zuccaro, Jennifer J; Agnihotri, Sameer S; Ryall, Scott S; Barszczyk, Mark M; Chornenkyy, Yevgen Y; Bourgey, Mathieu M; Bourque, Guillaume G; Montpetit, Alexandre A; Cordero, Francisco F; Castelo-Branco, Pedro P; Mangerel, Joshua J; Tabori, Uri U; Ho, King Ching KC; Huang, Annie A; Taylor, Kathryn R KR; Mackay, Alan A; Bendel, Anne E AE; Nazarian, Javad J; Fangusaro, Jason R JR; Karajannis, Matthias A MA; Zagzag, David D; Foreman, Nicholas K NK; Donson, Andrew A; Hegert, Julia V JV; Smith, Amy A; Chan, Jennifer J; Lafay-Cousin, Lucy L; Dunn, Sandra S; Hukin, Juliette J; Dunham, Chris C; Scheinemann, Katrin K; Michaud, Jean J; Zelcer, Shayna S; Ramsay, David D; Cain, Jason J; Brennan, Cameron C; Souweidane, Mark M MM; Jones, Chris C; Allis, C David CD; Brudno, Michael M; Becher, Oren O; Hawkins, Cynthia C
Publication Date: 2014-05

Variant appearance in text: LRRK2: H1453R
PubMed Link: 24705254
Variant Present in the following documents:
  • NIHMS4215-supplement-10.xlsx, sheet 2
View BVdb publication page



C9orf72 hexanucleotide repeat expansion and Guam amyotrophic lateral sclerosis-Parkinsonism-dementia complex.

Jama Neurology
Dombroski, Beth A BA; Galasko, Douglas R DR; Mata, Ignacio F IF; Zabetian, Cyrus P CP; Craig, Ulla-Katrina UK; Garruto, Ralph M RM; Oyanagi, Kiyomitsu K; Schellenberg, Gerard D GD
Publication Date: 2013-06

Variant appearance in text: LRRK2: H1453R
PubMed Link: 23588498
Variant Present in the following documents:
  • Main text
View BVdb publication page