LRRK2 c.5757+1638C>T

Variant ID: 12-40723900-C-T

NM_198578.3(LRRK2):c.5757+1638C>T

This variant was identified in 2 publications

View GRCh38 version.




Publications:


RAB7L1 interacts with LRRK2 to modify intraneuronal protein sorting and Parkinson's disease risk.

Neuron
MacLeod, David A DA; Rhinn, Herve H; Kuwahara, Tomoki T; Zolin, Ari A; Di Paolo, Gilbert G; McCabe, Brian D BD; MacCabe, Brian D BD; Marder, Karen S KS; Honig, Lawrence S LS; Clark, Lorraine N LN; Small, Scott A SA; Abeliovich, Asa A
Publication Date: 2013-02-06

Variant appearance in text: rs11176052
PubMed Link: 23395371
Variant Present in the following documents:
  • Main text
View BVdb publication page



Parkinson's disease and low frequency alleles found together throughout LRRK2.

Annals Of Human Genetics
Paisán-Ruiz, Coro C; Washecka, Nicole N; Nath, Priti P; Singleton, Andrew B AB; Corder, Elizabeth H EH
Publication Date: 2009-07

Variant appearance in text: rs11176052
PubMed Link: 19489756
Variant Present in the following documents:
  • Main text
View BVdb publication page