CYBB c.1147C>T ;(p.P383S)

Variant ID: X-37663379-C-T

NM_000397.3(CYBB):c.1147C>T;(p.P383S)

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:

Genetic Testing in Egyptian Patients with Inborn Errors of Immunity: a Single-Center Experience.

Journal Of Clinical Immunology
El Hawary, Rabab E RE; Meshaal, Safa S SS; Abd Elaziz, Dalia S DS; Alkady, Radwa R; Lotfy, Sohilla S; Eldash, Alia A; Erfan, Aya A; Chohayeb, Engy A EA; Saad, Mai M MM; Darwish, Rania K RK; Boutros, Jeannette A JA; Galal, Nermeen M NM; Elmarsafy, Aisha M AM
Publication Date: 2022-07

Variant appearance in text: CYBB: 1147C>T
PubMed Link: 35482138
Variant Present in the following documents:
  • 10875_2022_Article_1272.pdf
View BVdb publication page