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CYBB c.1315A>G ;(p.I439V)
Variant ID: X-37665640-A-G
NM_000397.3(
CYBB
):c.1315A>G;(p.I439V)
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:
Structure of the core human NADPH oxidase NOX2.
Nature Communications
Noreng, Sigrid S; Ota, Naruhisa N; Sun, Yonglian Y; Ho, Hoangdung H; Johnson, Matthew M; Arthur, Christopher P CP; Schneider, Kellen K; Lehoux, Isabelle I; Davies, Christopher W CW; Mortara, Kyle K; Wong, Kit K; Seshasayee, Dhaya D; Masureel, Matthieu M; Payandeh, Jian J; Yi, Tangsheng T; Koerber, James T JT
Publication Date: 2022-10-14
Variant appearance in text: NOX2: Ile439Val
PubMed Link:
36241643
Variant Present in the following documents:
41467_2022_33711_MOESM1_ESM.pdf
View BVdb publication page
Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.
Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09
Variant appearance in text: CYBB: I439V
PubMed Link:
31819097
Variant Present in the following documents:
41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
Clinical Features and Genetic Analysis of 48 Patients with Chronic Granulomatous Disease in a Single Center Study from Shanghai, China (2005-2015): New Studies and a Literature Review.
Journal Of Immunology Research
Wu, Jing J; Wang, Wei-Fan WF; Zhang, Yi-Dan YD; Chen, Tong-Xin TX
Publication Date: 2017
Variant appearance in text: CYBB: 1315A>G
PubMed Link:
28251166
Variant Present in the following documents:
Main text
JIR2017-8745254.pdf
View BVdb publication page