LRRK2 c.1343T>C ;(p.L448S)

Variant ID: 12-40651104-T-C

NM_198578.3(LRRK2):c.1343T>C;(p.L448S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Alterations in homologous recombination repair genes in prostate cancer brain metastases.

Nature Communications
Rodriguez-Calero, Antonio A; Gallon, John J; Akhoundova, Dilara D; Maletti, Sina S; Ferguson, Alison A; Cyrta, Joanna J; Amstutz, Ursula U; Garofoli, Andrea A; Paradiso, Viola V; Tomlins, Scott A SA; Hewer, Ekkehard E; Genitsch, Vera V; Fleischmann, Achim A; Vassella, Erik E; Rushing, Elisabeth J EJ; Grobholz, Rainer R; Fischer, Ingeborg I; Jochum, Wolfram W; Cathomas, Gieri G; Osunkoya, Adeboye O AO; Bubendorf, Lukas L; Moch, Holger H; Thalmann, George G; Ng, Charlotte K Y CKY; Gillessen, Silke S; Piscuoglio, Salvatore S; Rubin, Mark A MA
Publication Date: 2022-05-03

Variant appearance in text: LRRK2: Leu448Ser
PubMed Link: 35504881
Variant Present in the following documents:
  • 41467_2022_30003_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders.

Jama Neurology
Montaut, Solveig S; Tranchant, Christine C; Drouot, Nathalie N; Rudolf, Gabrielle G; Guissart, Claire C; Tarabeux, Julien J; Stemmelen, Tristan T; Velt, Amandine A; Fourrage, Cécile C; Nitschké, Patrick P; Gerard, Bénédicte B; Mandel, Jean-Louis JL; Koenig, Michel M; Chelly, Jamel J; Anheim, Mathieu M; ,
Publication Date: 2018-10-01

Variant appearance in text: LRRK2: L448S
PubMed Link: 29913018
Variant Present in the following documents:
  • Main text
View BVdb publication page