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TSC2 c.899G>A ;(p.G300D)
Variant ID: 16-2108798-G-A
NM_000548.3(
TSC2
):c.899G>A;(p.G300D)
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:
A prognostic risk model for glioma patients by systematic evaluation of genomic variations.
Iscience
Zhang, Baifeng B; Wan, Weiqing W; Li, Zibo Z; Gao, Zhixian Z; Ji, Nan N; Xie, Jian J; Wang, Junmei J; Wang, Bin B; Lai-Wan Kwong, Dora D; Guan, Xinyuan X; Gao, Shengjie S; Zhao, Yuanli Y; Lu, Youyong Y; Zhang, Liwei L; Rodland, Karin D KD; Tsang, Shirley X SX
Publication Date: 2022-12-22
Variant appearance in text: TSC2: G300D
PubMed Link:
36536675
Variant Present in the following documents:
mmc3.xls, sheet 1
View BVdb publication page
A novel TSC2 missense variant associated with a variable phenotype of tuberous sclerosis complex: case report of a Chinese family.
Bmc Medical Genetics
Wang, Feng F; Xiong, Shiyi S; Wu, Lin L; Chopra, Maya M; Hu, Xihong X; Wu, Bingbing B
Publication Date: 2018-05-30
Variant appearance in text: TSC2: 899G>A
PubMed Link:
29843636
Variant Present in the following documents:
Main text
12881_2018_Article_611.pdf
View BVdb publication page