TSC2 c.2690del ;(p.F897Sfs*51)

Variant ID: 16-2126117-GT-G

NM_000548.3(TSC2):c.2690del;(p.F897Sfs*51)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: 2690delT
PubMed Link: 31927531
Variant Present in the following documents:
  • aging-12-102654-s001..xlsx, sheet 1
View BVdb publication page



[Two novel TSC2 frameshift mutations in tuberous sclerosis complex].

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal Of Contemporary Pediatrics
Pan, Yu-Chun YC; Wu, Wei-Qing WQ; Xie, Jian-Sheng JS; Luo, Cai-Qun CQ; Hao, Ying Y
Publication Date: 2017-03

Variant appearance in text: TSC2: 2690delT
PubMed Link: 28302202
Variant Present in the following documents:
  • Main text
View BVdb publication page