TSC2 c.4582G>C ;(p.E1528Q)

Variant ID: 16-2135243-G-C

NM_000548.3(TSC2):c.4582G>C;(p.E1528Q)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


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: 4582G>C; Glu1528Gln
PubMed Link: 30086788
Variant Present in the following documents:
  • Main text
  • 13058_2018_Article_1011.pdf
View BVdb publication page