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.




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