NOTCH1 c.1220C>A ;(p.P407Q)

Variant ID: 9-139412624-G-T

NM_017617.3(NOTCH1):c.1220C>A;(p.P407Q)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Genetic insights into non-syndromic Tetralogy of Fallot.

Frontiers In Physiology
Althali, Nouf J NJ; Hentges, Kathryn E KE
Publication Date: 2022

Variant appearance in text: NOTCH1: 1220C>A; P407Q
PubMed Link: 36277185
Variant Present in the following documents:
  • Main text
  • fphys-13-1012665.pdf
View BVdb publication page



Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology
Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y
Publication Date: 2021-04-01

Variant appearance in text: NOTCH1: P407Q
PubMed Link: 33795819
Variant Present in the following documents:
  • 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Multiple gene variations contributed to congenital heart disease via GATA family transcriptional regulation.

Journal Of Translational Medicine
Qian, Yanyan Y; Xiao, Deyong D; Guo, Xiao X; Chen, Hongbo H; Hao, Lili L; Ma, Xiaojing X; Huang, Guoying G; Ma, Duan D; Wang, Huijun H
Publication Date: 2017-04-03

Variant appearance in text: NOTCH1: 1220C>A; P407Q
PubMed Link: 28372585
Variant Present in the following documents:
  • Main text
View BVdb publication page