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NOTCH1 c.6054C>A ;(p.H2018Q)
Variant ID: 9-139393592-G-T
NM_017617.3(
NOTCH1
):c.6054C>A;(p.H2018Q)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Integrated proteogenomic characterization across major histological types of pituitary neuroendocrine tumors.
Cell Research
Zhang, Fan F; Zhang, Qilin Q; Zhu, Jiajun J; Yao, Boyuan B; Ma, Chi C; Qiao, Nidan N; He, Shiman S; Ye, Zhao Z; Wang, Yunzhi Y; Han, Rui R; Feng, Jinwen J; Wang, Yongfei Y; Qin, Zhaoyu Z; Ma, Zengyi Z; Li, Kai K; Zhang, Yichao Y; Tian, Sha S; Chen, Zhengyuan Z; Tan, Subei S; Wu, Yue Y; Ran, Peng P; Wang, Ye Y; Ding, Chen C; Zhao, Yao Y
Publication Date: 2022-12
Variant appearance in text: NOTCH1: 6054C>A
PubMed Link:
36307579
Variant Present in the following documents:
41422_2022_736_MOESM10_ESM.xlsx, sheet 3
View BVdb publication page
Novel clinicopathological and molecular characterization of metanephric adenoma: a study of 28 cases.
Diagnostic Pathology
Ding, Ying Y; Wang, Cong C; Li, Xuejie X; Jiang, Yangyang Y; Mei, Ping P; Huang, Wenbin W; Song, Guoxin G; Wang, Jinsong J; Ping, Guoqiang G; Hu, Ran R; Miao, Chen C; He, Xiao X; Chen, Gang G; Li, Hai H; Zhu, Yan Y; Zhang, Zhihong Z
Publication Date: 2018-08-16
Variant appearance in text: NOTCH1: 6054C>A; H2018Q
PubMed Link:
30111351
Variant Present in the following documents:
Main text
13000_2018_Article_732.pdf
View BVdb publication page