TSC2 c.4207del ;(p.D1403Tfs*8)

Variant ID: 16-2134426-TG-T

NM_000548.3(TSC2):c.4207del;(p.D1403Tfs*8)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Integrating real-time in vivo tumour genomes for longitudinal analysis and management of glioma recurrence.

Clinical And Translational Medicine
Sheng, Zhiyuan Z; Yu, Jinliang J; Deng, Kaiyuan K; Bu, Yage Y; Wu, Shuang S; Xu, Sensen S; Gao, Yushuai Y; Zhang, Qianqian Q; Yan, Zhaoyue Z; Bu, Chaojie C; Chen, Zhongcan Z; Gu, Jianjun J; Jia, Yan Y; Gao, Xinya X; Zemmar, Ajmal A; Sumardi, Fitri F; Hernesniemi, Juha J; Kong, Lingfei L; Liu, Gang G; Li, Ming M; Wang, Meiyun M; Li, Tianxiao T; Bu, Xingyao X
Publication Date: 2021-11

Variant appearance in text: TSC2: 4207del
PubMed Link: 34841677
Variant Present in the following documents:
  • CTM2-11-e567-s004.xlsx, sheet 5
View BVdb publication page



Tumor DNA From Tumor In Situ Fluid Reveals Mutation Landscape of Minimal Residual Disease After Glioma Surgery and Risk of Early Recurrence.

Frontiers In Oncology
Yu, Jinliang J; Sheng, Zhiyuan Z; Wu, Shuang S; Gao, Yushuai Y; Yan, Zhaoyue Z; Bu, Chaojie C; Gu, Jianjun J; Bu, Yage Y; Deng, Kaiyuan K; Xu, Sensen S; Chen, Zhongcan Z; Zhang, Qianqian Q; Zemmar, Ajmal A; Hernesniemi, Juha J; Wang, Meiyun M; Liu, Gang G; Li, Tianxiao T; Bu, Xingyao X
Publication Date: 2021

Variant appearance in text: TSC2: 4207del
PubMed Link: 34712610
Variant Present in the following documents:
  • DataSheet_1.xls, sheet 5
View BVdb publication page



Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2.

European Journal Of Human Genetics : Ejhg
Kwiatkowski, David J DJ; Palmer, Michael R MR; Jozwiak, Sergiusz S; Bissler, John J; Franz, David D; Segal, Scott S; Chen, David D; Sampson, Julian R JR
Publication Date: 2015-12

Variant appearance in text: TSC2: 4207del
PubMed Link: 25782670
Variant Present in the following documents:
  • ejhg201547x1.xls, sheet 1
View BVdb publication page