CACNG2 c.212-5732A>C

Variant ID: 22-36989327-T-G

NM_006078.3(CACNG2):c.212-5732A>C

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia.

American Journal Of Human Genetics
Mencacci, Niccolo E NE; Rubio-Agusti, Ignacio I; Zdebik, Anselm A; Asmus, Friedrich F; Ludtmann, Marthe H R MH; Ryten, Mina M; Plagnol, Vincent V; Hauser, Ann-Kathrin AK; Bandres-Ciga, Sara S; Bettencourt, Conceição C; Forabosco, Paola P; Hughes, Deborah D; Soutar, Marc M P MM; Peall, Kathryn K; Morris, Huw R HR; Trabzuni, Daniah D; Tekman, Mehmet M; Stanescu, Horia C HC; Kleta, Robert R; Carecchio, Miryam M; Zorzi, Giovanna G; Nardocci, Nardo N; Garavaglia, Barbara B; Lohmann, Ebba E; Weissbach, Anne A; Klein, Christine C; Hardy, John J; Pittman, Alan M AM; Foltynie, Thomas T; Abramov, Andrey Y AY; Gasser, Thomas T; Bhatia, Kailash P KP; Wood, Nicholas W NW
Publication Date: 2015-06-04

Variant appearance in text: rs926543
PubMed Link: 25983243
Variant Present in the following documents:
  • Main text
View BVdb publication page



Connection between genetic and clinical data in bipolar disorder.

Plos One
Mellerup, Erling E; Andreassen, Ole O; Bennike, Bente B; Dam, Henrik H; Djurovic, Srdjan S; Durovic, Srdjan S; Hansen, Thomas T; Melle, Ingrid I; Møller, Gert Lykke GL; Mors, Ole O; Koefoed, Pernille P
Publication Date: 2012

Variant appearance in text: rs926543
PubMed Link: 23028568
Variant Present in the following documents:
  • Main text
  • pone.0044623.pdf
View BVdb publication page