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TSC2 c.899G>T ;(p.G300V)
Variant ID: 16-2108798-G-T
NM_000548.3(
TSC2
):c.899G>T;(p.G300V)
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:
Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.
Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04
Variant appearance in text: TSC2: 899G>T; G300V
PubMed Link:
33397889
Variant Present in the following documents:
41467_2020_20162_MOESM9_ESM.xlsx, sheet 1
41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page
Whole exome sequencing identifies a novel intron heterozygous mutation in TSC2 responsible for tuberous sclerosis complex.
Scientific Reports
Ye, Yicong Y; Zeng, Yong Y
Publication Date: 2019-03-14
Variant appearance in text: TSC2: 899G>T
PubMed Link:
30872599
Variant Present in the following documents:
Main text
41598_2019_Article_38898.pdf
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>T
PubMed Link:
29843636
Variant Present in the following documents:
Main text
12881_2018_Article_611.pdf
View BVdb publication page