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TSC2 c.2591A>G ;(p.Q864R)
Variant ID: 16-2125845-A-G
NM_000548.3(
TSC2
):c.2591A>G;(p.Q864R)
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:
Integrated genomic analyses identify high-risk factors and actionable targets in T-cell acute lymphoblastic leukemia.
Blood Science (Baltimore, Md.)
Zhu, Haichuan H; Dong, Bingjie B; Zhang, Yingchi Y; Wang, Mei M; Rao, Jianan J; Cui, Bowen B; Liu, Yu Y; Jiang, Qian Q; Wang, Weitao W; Yang, Lu L; Yu, Anqi A; Li, Zongru Z; Liu, Chao C; Zhang, Leping L; Huang, Xiaojun X; Zhu, Xiaofan X; Wu, Hong H
Publication Date: 2022-01
Variant appearance in text: TSC2: Q864R
PubMed Link:
35399540
Variant Present in the following documents:
bls-4-16-s005.xlsx, sheet 2
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: 2591A>G; Q864R
PubMed Link:
33860439
Variant Present in the following documents:
12035_2021_2377_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page