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TSC2 c.1033C>T ;(p.L345F)
Variant ID: 16-2110728-C-T
NM_000548.3(
TSC2
):c.1033C>T;(p.L345F)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Investigation of PALB2 Mutation and Correlation With Immunotherapy Biomarker in Chinese Non-Small Cell Lung Cancer Patients.
Frontiers In Oncology
Zhang, Jiexia J; Tang, Shuangfeng S; Zhang, Chunning C; Li, Mingyao M; Zheng, Yating Y; Hu, Xue X; Huang, Mengli M; Cheng, Xiangyang X
Publication Date: 2021
Variant appearance in text: TSC2: 1033C>T; L345F
PubMed Link:
35087742
Variant Present in the following documents:
Table_2.xlsx, sheet 1
View BVdb publication page
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Molecular Neurobiology
Zhang, Yi Y; Wang, Tao T; Wang, Yan Y; Xia, Kun K; Li, Jinchen J; Sun, Zhongsheng Z
Publication Date: 2021-08
Variant appearance in text: TSC2: 1033C>T; L345F; rs397515146
PubMed Link:
33860439
Variant Present in the following documents:
12035_2021_2377_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page
Comparison of BRCA versus non-BRCA germline mutations and associated somatic mutation profiles in patients with unselected breast cancer.
Aging
Chen, Bo B; Zhang, Guochun G; Li, Xuerui X; Ren, Chongyang C; Wang, Yulei Y; Li, Kai K; Mok, Hsiaopei H; Cao, Li L; Wen, Lingzhu L; Jia, Minghan M; Li, Cheukfai C; Guo, Liping L; Wei, Guangnan G; Lin, Jiali J; Li, Yingzi Y; Zhang, Yuchen Y; Han-Zhang, Han H; Liu, Jing J; Lizaso, Analyn A; Liao, Ning N
Publication Date: 2020-02-24
Variant appearance in text: rs397515146
PubMed Link:
32091409
Variant Present in the following documents:
aging-12-102783-s001..xlsx, sheet 1
View BVdb publication page