CYBB c.1173_1176del ;(p.F391Lfs*13)

Variant ID: X-37664280-TTGGC-T

NM_000397.3(CYBB):c.1173_1176del;(p.F391Lfs*13)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

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: F391LfsX13
PubMed Link: 28251166
Variant Present in the following documents:
  • JIR2017-8745254.pdf
View BVdb publication page