CYBB c.1171_1175del ;(p.F391Hfs*4)

Variant ID: X-37664278-CTTTGG-C

NM_000397.3(CYBB):c.1171_1175del;(p.F391Hfs*4)

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:

Chronic Granulomatous Disease: an Updated Experience, with Emphasis on Newly Recognized Features.

Journal Of Clinical Immunology
Oikonomopoulou, Zacharoula Z; Shulman, Stanford S; Mets, Marilyn M; Katz, Ben B
Publication Date: 2022-10

Variant appearance in text: CGD: 1171_1175del
PubMed Link: 35696001
Variant Present in the following documents:
  • Main text
View BVdb publication page