TSC2 c.5219G>A ;(p.W1740*)

Variant ID: 16-2138286-G-A

NM_000548.3(TSC2):c.5219G>A;(p.W1740*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Gene mutations in sporadic lymphangioleiomyomatosis and genotype-phenotype correlation analysis.

Bmc Pulmonary Medicine
Huang, Jiannan J; Xu, Wenshuai W; Liu, Peng P; Liu, Yaping Y; Shen, Cheng C; Liu, Song S; Wang, Yani Y; Wang, Jun J; Zhang, Tengyue T; He, Yudi Y; Cheng, Chongsheng C; Yang, Luning L; Zhang, Weihong W; Tian, Xinlun X; Xu, Kai-Feng KF
Publication Date: 2022-09-18

Variant appearance in text: TSC2: 5219G>A; W1740X
PubMed Link: 36117164
Variant Present in the following documents:
  • 12890_2022_2154_MOESM4_ESM.xlsx, sheet 1
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: Trp1740*
PubMed Link: 31856217
Variant Present in the following documents:
  • Main text
  • pone.0226400.s008.xlsx, sheet 1
  • pone.0226400.s004.xlsx, sheet 4
View BVdb publication page