TSC2 c.790dup ;(p.L264Pfs*74)

Variant ID: 16-2107119-T-TC

NM_000548.3(TSC2):c.790dup;(p.L264Pfs*74)

This variant was identified in 3 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: 788_789insC
PubMed Link: 35638823
Variant Present in the following documents:
  • Main text
  • 1415-4757-GMB-45-2-e20200387.pdf
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: 788_789insC
PubMed Link: 31927531
Variant Present in the following documents:
  • aging-12-102654-s001..xlsx, sheet 1
View BVdb publication page



Clinical and genetic analysis of tuberous sclerosis complex-associated renal angiomyolipoma in Chinese pedigrees.

Oncology Letters
Li, Shuqiang S; Zhang, Yushi Y; Wei, Jinxing J; Zhang, Xuepei X
Publication Date: 2017-12

Variant appearance in text: TSC2: 788_789insC
PubMed Link: 29344138
Variant Present in the following documents:
  • Main text
  • ol-14-06-7085.pdf
View BVdb publication page