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CYBB c.55C>G ;(p.L19V)
Variant ID: X-37641350-C-G
NM_000397.3(
CYBB
):c.55C>G;(p.L19V)
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:
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: Leu19Val
PubMed Link:
36241643
Variant Present in the following documents:
41467_2022_33711_MOESM1_ESM.pdf
View BVdb publication page
Identification of a novel mutation in CYBB gene in a Chinese neonate with X-linked chronic granulomatous disease: A case report.
Medicine
Zhang, Jie J; Fan, Meili M; Chen, Mengmeng M; Wang, Huihui H; Miao, Na N; Yu, Haihua H; Zhang, Lehai L; Deng, Qianqian Q; Yi, Changying C
Publication Date: 2022-03-11
Variant appearance in text: CGD: 55C>G
PubMed Link:
35451380
Variant Present in the following documents:
Main text
medi-101-e28875.pdf
View BVdb publication page