NOTCH1 c.3197C>T ;(p.S1066L)

Variant ID: 9-139402812-G-A

NM_017617.3(NOTCH1):c.3197C>T;(p.S1066L)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.

Ebiomedicine
Wang, Tao T; Zhao, Tingting T; Liu, Liqiu L; Teng, Huajing H; Fan, Tianda T; Li, Yi Y; Wang, Yan Y; Li, Jinchen J; Xia, Kun K; Sun, Zhongsheng Z
Publication Date: 2022-07

Variant appearance in text: NOTCH1: 3197C>T; S1066L; rs771739312
PubMed Link: 35665681
Variant Present in the following documents:
  • mmc26.xlsx, sheet 1
View BVdb publication page



NOTCH1: Review of its role in lymphatic development and study of seven families with rare pathogenic variants.

Molecular Genetics & Genomic Medicine
Michelini, Sandro S; Ricci, Maurizio M; Serrani, Roberta R; Barati, Shila S; Kenanoglu, Sercan S; Veselenyiova, Dominika D; Kurti, Danjela D; Baglivo, Mirko M; Basha, Syed Hussain SH; Priya, Sasi S; Dautaj, Astrit A; Dundar, Munis M; Krajcovic, Juraj J; Bertelli, Matteo M
Publication Date: 2021-01

Variant appearance in text: NOTCH1: 3197C>T; Ser1066Leu; rs771739312
PubMed Link: 33247628
Variant Present in the following documents:
  • Main text
  • MGG3-9-e1529.pdf
View BVdb publication page



Genomic Comparison of Endometrioid Endometrial Carcinoma and Its Precancerous Lesions in Chinese Patients by High-Depth Next Generation Sequencing.

Frontiers In Oncology
Wang, Yao Y; Yu, Mei M; Yang, Jia-Xin JX; Cao, Dong-Yan DY; Zhang, Ying Y; Zhou, Hui-Mei HM; Yuan, Zhen Z; Shen, Keng K
Publication Date: 2019

Variant appearance in text: NOTCH1: 3197C>T
PubMed Link: 30886832
Variant Present in the following documents:
  • Table_2.xls, sheet 1
  • Table_2.xls, sheet 2
View BVdb publication page