LRRK2 c.5417C>T ;(p.T1806I)

Variant ID: 12-40716220-C-T

NM_198578.3(LRRK2):c.5417C>T;(p.T1806I)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.

Jama Neurology
Fogel, Brent L BL; Lee, Hane H; Deignan, Joshua L JL; Strom, Samuel P SP; Kantarci, Sibel S; Wang, Xizhe X; Quintero-Rivera, Fabiola F; Vilain, Eric E; Grody, Wayne W WW; Perlman, Susan S; Geschwind, Daniel H DH; Nelson, Stanley F SF
Publication Date: 2014-10

Variant appearance in text: LRRK2: 5417C>T; Thr1806Ile
PubMed Link: 25133958
Variant Present in the following documents:
  • Main text
View BVdb publication page