LRRK2 c.4234C>T ;(p.R1412*)

Variant ID: 12-40702952-C-T

NM_198578.3(LRRK2):c.4234C>T;(p.R1412*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.

Human Genomics
Nassir, Nasna N; Bankapur, Asma A; Samara, Bisan B; Ali, Abdulrahman A; Ahmed, Awab A; Inuwa, Ibrahim M IM; Zarrei, Mehdi M; Safizadeh Shabestari, Seyed Ali SA; AlBanna, Ammar A; Howe, Jennifer L JL; Berdiev, Bakhrom K BK; Scherer, Stephen W SW; Woodbury-Smith, Marc M; Uddin, Mohammed M
Publication Date: 2021-11-21

Variant appearance in text: LRRK2: R1412X
PubMed Link: 34802461
Variant Present in the following documents:
  • 40246_2021_368_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Molecular Psychiatry
Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ
Publication Date: 2021-09

Variant appearance in text: LRRK2: R1412X
PubMed Link: 33483695
Variant Present in the following documents:
  • 41380_2020_1006_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Frequency of Loss of Function Variants in LRRK2 in Parkinson Disease.

Jama Neurology
Blauwendraat, Cornelis C; Reed, Xylena X; Kia, Demis A DA; Gan-Or, Ziv Z; Lesage, Suzanne S; Pihlstrøm, Lasse L; Guerreiro, Rita R; Gibbs, J Raphael JR; Sabir, Marya M; Ahmed, Sarah S; Ding, Jinhui J; Alcalay, Roy N RN; Hassin-Baer, Sharon S; Pittman, Alan M AM; Brooks, Janet J; Edsall, Connor C; Hernandez, Dena G DG; Chung, Sun Ju SJ; Goldwurm, Stefano S; Toft, Mathias M; Schulte, Claudia C; Bras, Jose J; Wood, Nicholas W NW; Brice, Alexis A; Morris, Huw R HR; Scholz, Sonja W SW; Nalls, Mike A MA; Singleton, Andrew B AB; Cookson, Mark R MR; ,
Publication Date: 2018-11-01

Variant appearance in text: LRRK2: R1412X
PubMed Link: 30039155
Variant Present in the following documents:
  • Main text
View BVdb publication page