NOTCH1 c.5471G>A ;(p.R1824Q)

Variant ID: 9-139396454-C-T

NM_017617.3(NOTCH1):c.5471G>A;(p.R1824Q)

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: NOTCH1: 5471G>A; R1824Q
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications
Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C
Publication Date: 2020-05-05

Variant appearance in text: NOTCH1: 5471G>A; R1824Q
PubMed Link: 32371905
Variant Present in the following documents:
  • 41467_2020_16067_MOESM12_ESM.xlsx, sheet 9
View BVdb publication page



Bile cell‑free DNA as a novel and powerful liquid biopsy for detecting somatic variants in biliary tract cancer.

Oncology Reports
Shen, Ningjia N; Zhang, Dadong D; Yin, Lei L; Qiu, Yinghe Y; Liu, Jian J; Yu, Wenlong W; Fu, Xiaohui X; Zhu, Bin B; Xu, Xiaoya X; Duan, Anqi A; Chen, Zishuo Z; Wang, Xiang X; Cao, Xinkai X; Zhao, Teng T; Zhou, Zisong Z; Yu, Lianghe L; Qin, Hao H; Fang, Zheng Z; Li, Jing-Yu JY; Liu, Yuanjin Y; Xiong, Lei L; Yuan, Bo B; Li, Fugen F; Zhang, Yongjie Y
Publication Date: 2019-08

Variant appearance in text: NOTCH1: R1824Q
PubMed Link: 31173267
Variant Present in the following documents:
  • Main text
  • or-42-02-0549.pdf
View BVdb publication page