LRRK2 c.1435A>C ;(p.I479L)

Variant ID: 12-40653298-A-C

NM_198578.3(LRRK2):c.1435A>C;(p.I479L)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Glucosylceramide in cerebrospinal fluid of patients with GBA-associated and idiopathic Parkinson's disease enrolled in PPMI.

Npj Parkinson'S Disease
Huh, Young Eun YE; Park, Hyejung H; Chiang, Ming Sum Ruby MSR; Tuncali, Idil I; Liu, Ganqiang G; Locascio, Joseph J JJ; Shirvan, Julia J; Hutten, Samantha J SJ; Rotunno, Melissa S MS; Viel, Catherine C; Shihabuddin, Lamya S LS; Wang, Bing B; Sardi, Sergio Pablo SP; Scherzer, Clemens R CR
Publication Date: 2021-11-22

Variant appearance in text: LRRK2: I479L
PubMed Link: 34811369
Variant Present in the following documents:
  • Main text
  • 41531_2021_Article_241.pdf
View BVdb publication page



The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26

Variant appearance in text: LRRK2: 1435A>C
PubMed Link: 27460824
Variant Present in the following documents:
  • 13073_2016_333_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page