TSC2 c.500G>T ;(p.W167L)

Variant ID: 16-2105421-G-T

NM_000548.3(TSC2):c.500G>T;(p.W167L)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Redefine Hyperprogressive Disease During Treatment With Immune-Checkpoint Inhibitors in Patients With Gastrointestinal Cancer.

Frontiers In Oncology
Wang, Zhenghang Z; Liu, Chang C; Bai, Yuezong Y; Zhao, Xiaochen X; Cui, Longgang L; Peng, Zhi Z; Zhang, Xiaotian X; Wang, Xicheng X; Zhao, Zhengyi Z; Li, Jian J; Shen, Lin L
Publication Date: 2021

Variant appearance in text: TSC2: 500G>T; W167L
PubMed Link: 34858840
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



A Chinese family affected by lynch syndrome caused by MLH1 mutation.

Bmc Medical Genetics
Jia, Shuqin S; Zhang, Meng M; Sun, Yu Y; Yan, Hai H; Zhao, Fangping F; Li, Ziyu Z; Ji, Jiafu J
Publication Date: 2018-06-22

Variant appearance in text: TSC2: 500G>T
PubMed Link: 29929473
Variant Present in the following documents:
  • Main text
  • 12881_2018_605_MOESM2_ESM.xlsx, sheet 1
  • 12881_2018_605_MOESM3_ESM.xlsx, sheet 6
  • 12881_2018_605_MOESM3_ESM.xlsx, sheet 3
  • 12881_2018_605_MOESM2_ESM.xlsx, sheet 2
  • 12881_2018_605_MOESM3_ESM.xlsx, sheet 1
  • 12881_2018_605_MOESM3_ESM.xlsx, sheet 2
  • 12881_2018_Article_605.pdf
View BVdb publication page