TSC2 c.1944C>G ;(p.Y648*)

Variant ID: 16-2121615-C-G

NM_000548.3(TSC2):c.1944C>G;(p.Y648*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine
Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y
Publication Date: 2019-07

Variant appearance in text: TSC2: 1944C>G; Tyr648Ter
PubMed Link: 31165590
Variant Present in the following documents:
  • MGG3-7-e00748-s004.xlsx, sheet 1
View BVdb publication page



Dichotomy of Genetic Abnormalities in PEComas With Therapeutic Implications.

The American Journal Of Surgical Pathology
Agaram, Narasimhan P NP; Sung, Yun-Shao YS; Zhang, Lei L; Chen, Chun-Liang CL; Chen, Hsiao-Wei HW; Singer, Samuel S; Dickson, Mark A MA; Berger, Michael F MF; Antonescu, Cristina R CR
Publication Date: 2015-06

Variant appearance in text: TSC2: Y648*
PubMed Link: 25651471
Variant Present in the following documents:
  • Main text
View BVdb publication page