TSC2 c.4968C>T ;(p.D1656=)

Variant ID: 16-2136851-C-T

NM_000548.3(TSC2):c.4968C>T;(p.D1656=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Two novel TSC2 mutations in renal epithelioid angiomyolipoma sensitive to everolimus.

Cancer Biology & Therapy
Wang, Tao T; Xie, Shunqiang S; Luo, Rongtuan R; Shi, Lianguo L; Bai, Peide P; Wang, Xuegang X; Wan, Rui R; Deng, Jiang J; Wu, Zhun Z; Li, Wei W; Xiao, Wen W; Wang, Yongfeng Y; Chen, Bin B; Zhang, Kaiyan K; Xing, Jinchun J
Publication Date: 2020

Variant appearance in text: TSC2: 4968C>T
PubMed Link: 31597506
Variant Present in the following documents:
  • Main text
View BVdb publication page



Toward automation of germline variant curation in clinical cancer genetics.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J
Publication Date: 2019-09

Variant appearance in text: TSC2: 4968C>T
PubMed Link: 30787465
Variant Present in the following documents:
  • NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6
View BVdb publication page