TSC2 c.759C>A ;(p.C253*)

Variant ID: 16-2106755-C-A

NM_000548.3(TSC2):c.759C>A;(p.C253*)

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: 759C>A; Cys253Ter
PubMed Link: 31165590
Variant Present in the following documents:
  • MGG3-7-e00748-s004.xlsx, sheet 1
View BVdb publication page



Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex.

Human Molecular Genetics
Tyburczy, Magdalena E ME; Wang, Ji-An JA; Li, Shaowei S; Thangapazham, Rajesh R; Chekaluk, Yvonne Y; Moss, Joel J; Kwiatkowski, David J DJ; Darling, Thomas N TN
Publication Date: 2014-04-15

Variant appearance in text: TSC2: 759C>A; C253*
PubMed Link: 24271014
Variant Present in the following documents:
  • Main text
View BVdb publication page