TSC2 c.557del ;(p.F186Sfs*16)

Variant ID: 16-2105476-AT-A

NM_000548.3(TSC2):c.557del;(p.F186Sfs*16)

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: 557delT
PubMed Link: 31927531
Variant Present in the following documents:
  • aging-12-102654-s001..xlsx, sheet 1
View BVdb publication page



Antenatal screening and diagnosis of tuberous sclerosis complex by fetal echocardiography and targeted genomic sequencing.

Medicine
Gu, Xiaoyan X; Han, Ling L; Chen, Jian J; Wang, Jianbin J; Hao, Xiaoyan X; Zhang, Ye Y; Zhang, Jun J; Ge, Shuping S; He, Yihua Y
Publication Date: 2018-04

Variant appearance in text: TSC2: 557delT
PubMed Link: 29642139
Variant Present in the following documents:
  • Main text
  • medi-97-e0112.pdf
View BVdb publication page