LRRK2 c.6054C>T ;(p.Y2018=)

Variant ID: 12-40734201-C-T

NM_198578.3(LRRK2):c.6054C>T;(p.Y2018=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Clonal Evolutionary Analysis during HER2 Blockade in HER2-Positive Inflammatory Breast Cancer: A Phase II Open-Label Clinical Trial of Afatinib +/- Vinorelbine.

Plos Medicine
Goh, Gerald G; Schmid, Ramona R; Guiver, Kelly K; Arpornwirat, Wichit W; Chitapanarux, Imjai I; Ganju, Vinod V; Im, Seock-Ah SA; Kim, Sung-Bae SB; Dechaphunkul, Arunee A; Maneechavakajorn, Jedzada J; Spector, Neil N; Yau, Thomas T; Afrit, Mehdi M; Ahmed, Slim Ben SB; Johnston, Stephen R SR; Gibson, Neil N; Uttenreuther-Fischer, Martina M; Herrero, Javier J; Swanton, Charles C
Publication Date: 2016-12

Variant appearance in text: LRRK2: Y2018Y; rs150219613
PubMed Link: 27923043
Variant Present in the following documents:
  • pmed.1002136.s022.xlsx, sheet 1
  • pmed.1002136.s018.xlsx, sheet 1
View BVdb publication page



LRRK2 mutations in Parkinson's disease: confirmation of a gender effect in the Italian population.

Parkinsonism & Related Disorders
Cilia, Roberto R; Siri, Chiara C; Rusconi, Damiana D; Allegra, Roberta R; Ghiglietti, Andrea A; Sacilotto, Giorgio G; Zini, Michela M; Zecchinelli, Anna L AL; Asselta, Rosanna R; Duga, Stefano S; Paganoni, Anna M AM; Pezzoli, Gianni G; Seia, Manuela M; Goldwurm, Stefano S
Publication Date: 2014-08

Variant appearance in text: LRRK2: Y2018Y
PubMed Link: 24816003
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update.

Human Mutation
Nuytemans, Karen K; Theuns, Jessie J; Cruts, Marc M; Van Broeckhoven, Christine C
Publication Date: 2010-07

Variant appearance in text: LRRK2: 6054C>T
PubMed Link: 20506312
Variant Present in the following documents:
  • humu0031-0763-SD1.pdf
View BVdb publication page