TSC2 c.3750C>G ;(p.Y1250*)

Variant ID: 16-2131735-C-G

NM_000548.3(TSC2):c.3750C>G;(p.Y1250*)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Analysis of renal lesions in Chinese tuberous sclerosis complex patients with different types of TSC gene mutations.

Genetics And Molecular Biology
Wang, Wenda W; Zhao, Yang Y; Wang, Xu X; Wang, Zhan Z; Cai, Yi Y; Li, Hanzhong H; Zhang, Yushi Y
Publication Date: 2022

Variant appearance in text: TSC2: 3750C>G
PubMed Link: 35638823
Variant Present in the following documents:
  • Main text
  • 1415-4757-GMB-45-2-e20200387.pdf
View BVdb publication page



Resolution of multifocal micronodular pneumocyte hyperplasia with everolimus in a patient with tuberous sclerosis complex.

Respiratory Medicine Case Reports
Shoji, Tetsuaki T; Niida, Yo Y; Osawa, Takahiro T; Matsumoto, Ryuji R; Sakurai, Kotaro K; Suzuki, Masaru M; Matsuno, Yoshihiro Y; Konno, Satoshi S
Publication Date: 2021

Variant appearance in text: TSC2: 3750C>G
PubMed Link: 34703757
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Infantile spasms: Etiology, lead time and treatment response in a resource limited setting.

Epilepsy & Behavior Reports
Surana, Priyanka P; Symonds, Joseph D JD; Srivastava, Prabhar P; Geetha, Thenral S TS; Jain, Romit R; Vedant, Ramprasad R; Murugan, Sakthivel S; Mahalingam, Subathra S; Bhargava, Vivek V; Goyal, Pradeep P; Zuberi, Sameer M SM; Jain, Vivek V
Publication Date: 2020

Variant appearance in text: TSC2: 3750C>G; Tyr1250Ter
PubMed Link: 33196034
Variant Present in the following documents:
View BVdb publication page



Germline mutation of TSC1 or TSC2 gene in Chinese patients with bilateral renal angiomyolipomas and mutation spectrum of Chinese TSC patients.

Aging
Jiangyi, Wang W; Gang, Guo G; Guohai, Shi S; Dingwei, Ye Y
Publication Date: 2020-01-12

Variant appearance in text: TSC2: 3750C>G
PubMed Link: 31927531
Variant Present in the following documents:
  • aging-12-102654-s001..xlsx, sheet 1
View BVdb publication page



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: 3750C>G; Tyr1250Ter
PubMed Link: 31165590
Variant Present in the following documents:
  • MGG3-7-e00748-s004.xlsx, sheet 1
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: 3750C>G; Tyr1250*
PubMed Link: 25782670
Variant Present in the following documents:
  • ejhg201547x1.xls, 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: 3750C>G; Y1250*
PubMed Link: 24271014
Variant Present in the following documents:
  • Main text
View BVdb publication page