CYBB c.252_252+1insAG ;(p.C85Sfs*24)

Variant ID: X-37642852-C-CGA

NM_000397.3(CYBB):c.252_252+1insAG;(p.C85Sfs*24)

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:

X-linked chronic granulomatous disease secondary to skewed X chromosome inactivation in a female with a novel CYBB mutation and late presentation.

Clinical Immunology (Orlando, Fla.)
Lewis, Eric M EM; Singla, Manav M; Sergeant, Susan S; Koty, Patrick P PP; McPhail, Linda C LC
Publication Date: 2008-11

Variant appearance in text: CYBB: 252insAG
PubMed Link: 18774749
Variant Present in the following documents:
  • Main text
View BVdb publication page