CYBB c.907C>T ;(p.H303Y)

Variant ID: X-37663139-C-T

NM_000397.3(CYBB):c.907C>T;(p.H303Y)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Variant Type X91+ Chronic Granulomatous Disease: Clinical and Molecular Characterization in a Chinese Cohort.

Journal Of Clinical Immunology
Sun, Bijun B; Zhu, Zeyu Z; Hui, Xiaoying X; Sun, Jinqiao J; Wang, Wenjie W; Ying, Wenjing W; Zhou, Qinhua Q; Yao, Haili H; Hou, Jia J; Wang, Xiaochuan X
Publication Date: 2022-10

Variant appearance in text: CGD: His303Tyr
PubMed Link: 35796921
Variant Present in the following documents:
  • Main text
  • 10875_2022_Article_1324.pdf
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Late diagnosis of chronic granulomatous disease.

Clinical And Experimental Immunology
Barkai, T T; Somech, R R; Broides, A A; Gavrieli, R R; Wolach, B B; Marcus, N N; Hagin, D D; Stauber, T T
Publication Date: 2020-09

Variant appearance in text: CYBB: His303Tyr
PubMed Link: 32506450
Variant Present in the following documents:
  • Main text
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: 907C>T
PubMed Link: 20729109
Variant Present in the following documents:
  • Main text
View BVdb publication page