LRRK2 c.4894G>C ;(p.E1632Q)

Variant ID: 12-40713856-G-C

NM_198578.3(LRRK2):c.4894G>C;(p.E1632Q)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genetic Identification in Early Onset Parkinsonism among Norwegian Patients.

Movement Disorders Clinical Practice
Gustavsson, Emil K EK; Trinh, Joanne J; McKenzie, Marna M; Bortnick, Stephanie S; Petersen, Maria Skaalum MS; Farrer, Matthew J MJ; Aasly, Jan O JO
Publication Date: 2017

Variant appearance in text: LRRK2: 4894G>C; rs200580973
PubMed Link: 30363439
Variant Present in the following documents:
  • Main text
View BVdb publication page



Oligogenic genetic variation of neurodegenerative disease genes in 980 postmortem human brains.

Journal Of Neurology, Neurosurgery, And Psychiatry
Keogh, Michael J MJ; Wei, Wei W; Aryaman, Juvid J; Wilson, Ian I; Talbot, Kevin K; Turner, Martin R MR; McKenzie, Chris-Anne CA; Troakes, Claire C; Attems, Johannes J; Smith, Colin C; Al Sarraj, Safa S; Morris, Chris M CM; Ansorge, Olaf O; Pickering-Brown, Stuart S; Jones, Nick N; Ironside, James W JW; Chinnery, Patrick F PF
Publication Date: 2018-08

Variant appearance in text: LRRK2: E1632Q
PubMed Link: 29332010
Variant Present in the following documents:
  • jnnp-2017-317234supp001.pdf
View BVdb publication page