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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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