CYBB c.1598_1600del ;(p.G533del)

Variant ID: X-37670052-TAGG-T

NM_000397.3(CYBB):c.1598_1600del;(p.G533del)

This variant was identified in 2 publications

View GRCh38 version.




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: 1598_1600delGAG
PubMed Link: 35482138
Variant Present in the following documents:
  • Main text
  • 10875_2022_Article_1272.pdf
View BVdb publication page



Hematologically important mutations: X-linked chronic granulomatous disease (third update).

Blood Cells, Molecules & Diseases
Roos, Dirk D; Kuhns, Douglas B DB; Maddalena, Anne A; Roesler, Joachim J; Lopez, Juan Alvaro JA; Ariga, Tadashi T; Avcin, Tadej T; de Boer, Martin M; Bustamante, Jacinta J; Condino-Neto, Antonio A; Di Matteo, Gigliola G; He, Jianxin J; Hill, Harry R HR; Holland, Steven M SM; Kannengiesser, Caroline C; Köker, M Yavuz MY; Kondratenko, Irina I; van Leeuwen, Karin K; Malech, Harry L HL; Marodi, László L; Nunoi, Hiroyuki H; Stasia, Marie-José MJ; Ventura, Anna Maria AM; Witwer, Carl T CT; Wolach, Baruch B; Gallin, John I JI
Publication Date: 2010-10-15

Variant appearance in text: CGD: Gly533del
PubMed Link: 20729109
Variant Present in the following documents:
  • Main text
View BVdb publication page