CYBB c.252G>C ;(p.A84=)

Variant ID: X-37642853-G-C

NM_000397.3(CYBB):c.252G>C;(p.A84=)

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:

Residual NADPH oxidase activity and isolated lung involvement in x-linked chronic granulomatous disease.

Case Reports In Pediatrics
Gutierrez, Maria J MJ; McSherry, George D GD; Ishmael, Faoud T FT; Horwitz, Alexandra A AA; Nino, Gustavo G
Publication Date: 2012

Variant appearance in text: N/A
PubMed Link: 23193493
Variant Present in the following documents:
View BVdb publication page