LRRK2 c.364C>T ;(p.L122=)

Variant ID: 12-40629444-C-T

NM_198578.3(LRRK2):c.364C>T;(p.L122=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


GENETIC SUBGROUPS INFORM ON PATHOBIOLOGY IN ADULT AND PEDIATRIC BURKITT LYMPHOMA.

Blood
Thomas, Nicole N; Dreval, Kostiantyn K; Gerhard, Daniela S DS; Hilton, Laura K LK; Abramson, Jeremy S JS; Barta, Stefan K SK; Bartlett, Nancy L NL; Bethony, Jeffrey J; Bhatia, Kishor K; Bowen, Jay J; Bryan, Anthony C AC; Cesarman, Ethel E; Casper, Corey C; Cruz, Manuela M; Dyer, Maureen M; Farinha, Pedro P; Gastier-Foster, Julie J; Gerrie, Alina S AS; Grande, Bruno B; Greiner, Timothy C TC; Griner, Nicholas N; Gross, Thomas G TG; Harris, Nancy Lee NL; Irvin, John D JD; Jaffe, Elaine S ES; Henry, David D; Huppi, Rebecca Liddell RL; Leal, Fabio E FE; Lee, Michael M; Martin, Jean Paul JP; Martin, Marie-Reine MR; Mbulaiteye, Sam M SM; Mitsuyasu, Ronald R; Morris, Vivian V; Mullighan, Charles G CG; Mungall, Andrew J AJ; Mungall, Karen K; Mutyaba, Innocent I; Nokta, Mostafa M; Namirembe, Constance C; Noy, Ariela A; Ogwang, Martin David MD; Omoding, Abrahams A; Orem, Jackson J; Ott, German G; Petrello, Hilary H; Pittaluga, Stefania S; Phelan, James D JD; Ramos, Juan Carlos JC; Ratner, Lee L; Reynolds, Steven J SJ; Rubinstein, Paul G PG; Sissolak, Gerhard G; Slack, Graham W GW; Soudi, Shaghayegh S; Swerdlow, Steven Howard SH; Traverse-Glehen, Alexandra A; Wilson, Wyndham W; Wong, Jasper Chun Hei JCH; Yarchoan, Robert R; ZenKlusen, Jean C JC; Marra, Marco A MA; Staudt, Louis M LM; Scott, David W DW; Morin, Ryan D RD
Publication Date: 2022-10-06

Variant appearance in text: LRRK2: L122=
PubMed Link: 36201743
Variant Present in the following documents:
  • BLOOD_BLD-2022-016534-mmc1.xlsx, sheet 6
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: LRRK2: L122L; rs41286468
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study.

The Lancet. Neurology
Ross, Owen A OA; Soto-Ortolaza, Alexandra I AI; Heckman, Michael G MG; Aasly, Jan O JO; Abahuni, Nadine N; Annesi, Grazia G; Bacon, Justin A JA; Bardien, Soraya S; Bozi, Maria M; Brice, Alexis A; Brighina, Laura L; Van Broeckhoven, Christine C; Carr, Jonathan J; Chartier-Harlin, Marie-Christine MC; Dardiotis, Efthimios E; Dickson, Dennis W DW; Diehl, Nancy N NN; Elbaz, Alexis A; Ferrarese, Carlo C; Ferraris, Alessandro A; Fiske, Brian B; Gibson, J Mark JM; Gibson, Rachel R; Hadjigeorgiou, Georgios M GM; Hattori, Nobutaka N; Ioannidis, John P A JP; Jasinska-Myga, Barbara B; Jeon, Beom S BS; Kim, Yun Joong YJ; Klein, Christine C; Kruger, Rejko R; Kyratzi, Elli E; Lesage, Suzanne S; Lin, Chin-Hsien CH; Lynch, Timothy T; Maraganore, Demetrius M DM; Mellick, George D GD; Mutez, Eugénie E; Nilsson, Christer C; Opala, Grzegorz G; Park, Sung Sup SS; Puschmann, Andreas A; Quattrone, Aldo A; Sharma, Manu M; Silburn, Peter A PA; Sohn, Young Ho YH; Stefanis, Leonidas L; Tadic, Vera V; Theuns, Jessie J; Tomiyama, Hiroyuki H; Uitti, Ryan J RJ; Valente, Enza Maria EM; van de Loo, Simone S; Vassilatis, Demetrios K DK; Vilariño-Güell, Carles C; White, Linda R LR; Wirdefeldt, Karin K; Wszolek, Zbigniew K ZK; Wu, Ruey-Meei RM; Farrer, Matthew J MJ; ,
Publication Date: 2011-10

Variant appearance in text: LRRK2: L122L; rs41286468
PubMed Link: 21885347
Variant Present in the following documents:
  • Main text
View BVdb publication page