SNCA c.335T>C ;(p.I112T)

Variant ID: 4-90650400-A-G

NM_000345.3(SNCA):c.335T>C;(p.I112T)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Creation of an open-access, mutation-defined fibroblast resource for neurological disease research.

Plos One
Wray, Selina S; Self, Matthew M; , ; , ; , ; Lewis, Patrick A PA; Taanman, Jan-Willem JW; Ryan, Natalie S NS; Mahoney, Colin J CJ; Liang, Yuying Y; Devine, Michael J MJ; Sheerin, Una-Marie UM; Houlden, Henry H; Morris, Huw R HR; Healy, Daniel D; Marti-Masso, Jose-Felix JF; Preza, Elisavet E; Barker, Suzanne S; Sutherland, Margaret M; Corriveau, Roderick A RA; D'Andrea, Michael M; Schapira, Anthony H V AH; Uitti, Ryan J RJ; Guttman, Mark M; Opala, Grzegorz G; Jasinska-Myga, Barbara B; Puschmann, Andreas A; Nilsson, Christer C; Espay, Alberto J AJ; Slawek, Jaroslaw J; Gutmann, Ludwig L; Boeve, Bradley F BF; Boylan, Kevin K; Stoessl, A Jon AJ; Ross, Owen A OA; Maragakis, Nicholas J NJ; Van Gerpen, Jay J; Gerstenhaber, Melissa M; Gwinn, Katrina K; Dawson, Ted M TM; Isacson, Ole O; Marder, Karen S KS; Clark, Lorraine N LN; Przedborski, Serge E SE; Finkbeiner, Steven S; Rothstein, Jeffrey D JD; Wszolek, Zbigniew K ZK; Rossor, Martin N MN; Hardy, John J
Publication Date: 2012

Variant appearance in text: SNCA: I112T
PubMed Link: 22952635
Variant Present in the following documents:
  • Main text
  • pone.0043099.pdf
View BVdb publication page