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NOTCH1 c.1861C>T ;(p.R621C)
Variant ID: 9-139409977-G-A
NM_017617.3(
NOTCH1
):c.1861C>T;(p.R621C)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
A sex-informed approach to improve the personalised decision making process in myelodysplastic syndromes: a multicentre, observational cohort study.
The Lancet. Haematology
,
Publication Date: 2022-11-24
Variant appearance in text: NOTCH1: 1861C>T
PubMed Link:
36436542
Variant Present in the following documents:
mmc2.xlsx, sheet 1
View BVdb publication page
Circulating Cell-Free DNA Reflects the Clonal Evolution of Breast Cancer Tumors.
Cancers
Kujala, Jouni J; Hartikainen, Jaana M JM; Tengström, Maria M; Sironen, Reijo R; Auvinen, Päivi P; Kosma, Veli-Matti VM; Mannermaa, Arto A
Publication Date: 2022-03-04
Variant appearance in text: NOTCH1: R621C
PubMed Link:
35267640
Variant Present in the following documents:
Main text
cancers-14-01332.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: R621C
PubMed Link:
33795819
Variant Present in the following documents:
42003_2021_1959_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page
Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.
Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018
Variant appearance in text: NOTCH1: 1861C>T; Arg621Cys
PubMed Link:
30319441
Variant Present in the following documents:
Table_5.xlsx, sheet 1
View BVdb publication page