NOTCH1 c.3835_3837delinsTGA ;(p.R1279*)

Variant ID: 9-139401232-ACG-TCA

NM_017617.3(NOTCH1):c.3835_3837delinsTGA;(p.R1279*)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Identification of a novel heterozygous SOX9 variant in a Chinese family with congenital heart disease.

Molecular Genetics & Genomic Medicine
Gong, Li L; Wang, Chunyan C; Xie, Haiyang H; Gao, Jun J; Li, Tengyan T; Qi, Shenggui S; Wang, Binbin B; Wang, Jing J
Publication Date: 2022-05

Variant appearance in text: NOTCH1: R1279X
PubMed Link: 35218327
Variant Present in the following documents:
  • MGG3-10-e1909.pdf
View BVdb publication page



A novel TBX5 mutation predisposes to familial cardiac septal defects and atrial fibrillation as well as bicuspid aortic valve.

Genetics And Molecular Biology
Jiang, Wei-Feng WF; Xu, Ying-Jia YJ; Zhao, Cui-Mei CM; Wang, Xin-Hua XH; Qiu, Xing-Biao XB; Liu, Xu X; Wu, Shao-Hui SH; Yang, Yi-Qing YQ
Publication Date: 2020

Variant appearance in text: NOTCH1: R1279X
PubMed Link: 33306779
Variant Present in the following documents:
  • 1415-4757-GMB-43-4-e20200142.pdf
View BVdb publication page



PRIORI-T: A tool for rare disease gene prioritization using MEDLINE.

Plos One
Rao, Aditya A; Joseph, Thomas T; Saipradeep, Vangala G VG; Kotte, Sujatha S; Sivadasan, Naveen N; Srinivasan, Rajgopal R
Publication Date: 2020

Variant appearance in text: NOTCH1: Arg1279*
PubMed Link: 32315351
Variant Present in the following documents:
  • pone.0231728.s001.pdf
View BVdb publication page



New generation sequencing of targeted genes in the classical and the variant form of hairy cell leukemia highlights mutations in epigenetic regulation genes.

Oncotarget
Maitre, Elsa E; Bertrand, Philippe P; Maingonnat, Catherine C; Viailly, Pierre-Julien PJ; Wiber, Margaux M; Naguib, Dina D; Salaün, Véronique V; Cornet, Edouard E; Damaj, Gandhi G; Sola, Brigitte B; Jardin, Fabrice F; Troussard, Xavier X
Publication Date: 2018-06-22

Variant appearance in text: NOTCH1: R1279X
PubMed Link: 29989027
Variant Present in the following documents:
  • Main text
View BVdb publication page



Phenotype-driven gene prioritization for rare diseases using graph convolution on heterogeneous networks.

Bmc Medical Genomics
Rao, Aditya A; Vg, Saipradeep S; Joseph, Thomas T; Kotte, Sujatha S; Sivadasan, Naveen N; Srinivasan, Rajgopal R
Publication Date: 2018-07-06

Variant appearance in text: NOTCH1: Arg1279*
PubMed Link: 29980210
Variant Present in the following documents:
  • 12920_2018_372_MOESM1_ESM.pdf
View BVdb publication page