TSC2 c.2545A>G ;(p.T849A)

Variant ID: 16-2124390-A-G

NM_000548.3(TSC2):c.2545A>G;(p.T849A)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies.

Annals Of Clinical And Translational Neurology
Pippucci, Tommaso T; Licchetta, Laura L; Baldassari, Sara S; Marconi, Caterina C; De Luise, Monica M; Myers, Candace C; Nardi, Elena E; Provini, Federica F; Cameli, Cinzia C; Minardi, Raffaella R; Bacchelli, Elena E; Giordano, Lucio L; Crichiutti, Giovanni G; d'Orsi, Giuseppe G; Seri, Marco M; Gasparre, Giuseppe G; Mefford, Heather C HC; Tinuper, Paolo P; Bisulli, Francesca F; ,
Publication Date: 2019-03

Variant appearance in text: TSC2: Thr849Ala
PubMed Link: 30911571
Variant Present in the following documents:
  • Main text
  • ACN3-6-475.pdf
View BVdb publication page