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.




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