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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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