TSC2 c.5208C>A ;(p.Y1736*)

Variant ID: 16-2138275-C-A

NM_000548.3(TSC2):c.5208C>A;(p.Y1736*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex.

Scientific Reports
Rosengren, Thomas T; Nanhoe, Santoesha S; de Almeida, Luis Gustavo Dufner LGD; Schönewolf-Greulich, Bitten B; Larsen, Lasse Jonsgaard LJ; Hey, Caroline Amalie Brunbjerg CAB; Dunø, Morten M; Ek, Jakob J; Risom, Lotte L; Nellist, Mark M; Møller, Lisbeth Birk LB
Publication Date: 2020-06-18

Variant appearance in text: TSC2: 5208C>A; Tyr1736*
PubMed Link: 32555378
Variant Present in the following documents:
  • 41598_2020_66588_MOESM1_ESM.pdf
View BVdb publication page



Mutation spectrums of TSC1 and TSC2 in Chinese women with lymphangioleiomyomatosis (LAM).

Plos One
Liu, Jie J; Zhao, Weiwei W; Ou, Xiaohua X; Zhao, Zhen Z; Hu, Changming C; Sun, Mingming M; Liu, Feifei F; Deng, Junhao J; Gu, Weili W; An, Jiaying J; Zhang, Qingling Q; Zhang, Xiaoxian X; Xie, Jiaxing J; Li, Shiyue S; Chen, Rongchang R; Yu, Shihui S; Zhong, Nanshan N
Publication Date: 2019

Variant appearance in text: TSC2: 5208C>A; Tyr1736*
PubMed Link: 31856217
Variant Present in the following documents:
  • pone.0226400.s008.xlsx, sheet 1
  • pone.0226400.s004.xlsx, sheet 4
View BVdb publication page