TSC2 c.3749A>G ;(p.Y1250C)

Variant ID: 16-2131734-A-G

NM_000548.3(TSC2):c.3749A>G;(p.Y1250C)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes.

Hereditary Cancer In Clinical Practice
Henn, Jonas J; Spier, Isabel I; Adam, Ronja S RS; Holzapfel, Stefanie S; Uhlhaas, Siegfried S; Kayser, Katrin K; Plotz, Guido G; Peters, Sophia S; Aretz, Stefan S
Publication Date: 2019

Variant appearance in text: TSC2: 3749A>G; Tyr1250Cys
PubMed Link: 30680046
Variant Present in the following documents:
  • 13053_2018_102_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity.

Breast Cancer Research : Bcr
Penkert, Judith J; Schmidt, Gunnar G; Hofmann, Winfried W; Schubert, Stephanie S; Schieck, Maximilian M; Auber, Bernd B; Ripperger, Tim T; Hackmann, Karl K; Sturm, Marc M; Prokisch, Holger H; Hille-Betz, Ursula U; Mark, Dorothea D; Illig, Thomas T; Schlegelberger, Brigitte B; Steinemann, Doris D
Publication Date: 2018-08-07

Variant appearance in text: TSC2: 3749A>G; Tyr1250Cys
PubMed Link: 30086788
Variant Present in the following documents:
  • Main text
  • 13058_2018_Article_1011.pdf
View BVdb publication page