TSC2 c.328C>T ;(p.Q110*)

Variant ID: 16-2103445-C-T

NM_000548.3(TSC2):c.328C>T;(p.Q110*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases.

Nature Communications
Owen, Mallory J MJ; Lefebvre, Sebastien S; Hansen, Christian C; Kunard, Chris M CM; Dimmock, David P DP; Smith, Laurie D LD; Scharer, Gunter G; Mardach, Rebecca R; Willis, Mary J MJ; Feigenbaum, Annette A; Niemi, Anna-Kaisa AK; Ding, Yan Y; Van Der Kraan, Luca L; Ellsworth, Katarzyna K; Guidugli, Lucia L; Lajoie, Bryan R BR; McPhail, Timothy K TK; Mehtalia, Shyamal S SS; Chau, Kevin K KK; Kwon, Yong H YH; Zhu, Zhanyang Z; Batalov, Sergey S; Chowdhury, Shimul S; Rego, Seema S; Perry, James J; Speziale, Mark M; Nespeca, Mark M; Wright, Meredith S MS; Reese, Martin G MG; De La Vega, Francisco M FM; Azure, Joe J; Frise, Erwin E; Rigby, Charlene Son CS; White, Sandy S; Hobbs, Charlotte A CA; Gilmer, Sheldon S; Knight, Gail G; Oriol, Albert A; Lenberg, Jerica J; Nahas, Shareef A SA; Perofsky, Kate K; Kim, Kyu K; Carroll, Jeanne J; Coufal, Nicole G NG; Sanford, Erica E; Wigby, Kristen K; Weir, Jacqueline J; Thomson, Vicki S VS; Fraser, Louise L; Lazare, Seka S SS; Shin, Yoon H YH; Grunenwald, Haiying H; Lee, Richard R; Jones, David D; Tran, Duke D; Gross, Andrew A; Daigle, Patrick P; Case, Anne A; Lue, Marisa M; Richardson, James A JA; Reynders, John J; Defay, Thomas T; Hall, Kevin P KP; Veeraraghavan, Narayanan N; Kingsmore, Stephen F SF
Publication Date: 2022-07-26

Variant appearance in text: TSC2: 328C>T
PubMed Link: 35882841
Variant Present in the following documents:
  • 41467_2022_31446_MOESM1_ESM.pdf
View BVdb publication page