CYBB c.1169_1173del ;(p.P390Rfs*5)

Variant ID: X-37664276-CCCTTT-C

NM_000397.3(CYBB):c.1169_1173del;(p.P390Rfs*5)

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:

A novel variant in the neutrophil cytosolic factor 2 (NCF2) gene results in severe disseminated BCG infectious disease: A clinical report and literature review.

Molecular Genetics & Genomic Medicine
AlKhater, Suzan A SA; Deswarte, Caroline C; Casanova, Jean-Laurent JL; Bustamante, Jacinta J
Publication Date: 2020-06

Variant appearance in text: CGD: 1169_1173del
PubMed Link: 32281309
Variant Present in the following documents:
  • Main text
  • MGG3-8-e1237.pdf
View BVdb publication page