LRRK2 c.5683C>T ;(p.R1895*)

Variant ID: 12-40722188-C-T

NM_198578.3(LRRK2):c.5683C>T;(p.R1895*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: R1895X
PubMed Link: 30039155
Variant Present in the following documents:
  • Main text
View BVdb publication page



Deep sequencing of the LRRK2 gene in 14,002 individuals reveals evidence of purifying selection and independent origin of the p.Arg1628Pro mutation in Europe.

Human Mutation
Rubio, Justin P JP; Topp, Simon S; Warren, Liling L; St Jean, Pamela L PL; Wegmann, Daniel D; Kessner, Darren D; Novembre, John J; Shen, Judong J; Fraser, Dana D; Aponte, Jennifer J; Nangle, Keith K; Cardon, Lon R LR; Ehm, Margaret G MG; Chissoe, Stephanie L SL; Whittaker, John C JC; Nelson, Matthew R MR; Mooser, Vincent E VE
Publication Date: 2012-07

Variant appearance in text: LRRK2: 5683C>T; Arg1895X
PubMed Link: 22415848
Variant Present in the following documents:
  • Main text
View BVdb publication page