CYBB c.1448G>A ;(p.W483*)

Variant ID: X-37665773-G-A

NM_000397.3(CYBB):c.1448G>A;(p.W483*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


An assessment of the effects of ectopic gp91phox expression in XCGD iPSC-derived neutrophils.

Molecular Therapy. Methods & Clinical Development
Lin, Huan-Ting HT; Masaki, Hideki H; Yamaguchi, Tomoyuki T; Wada, Taizo T; Yachie, Akihiro A; Nishimura, Ken K; Ohtaka, Manami M; Nakanishi, Mahito M; Nakauchi, Hiromitsu H; Otsu, Makoto M
Publication Date: 2015

Variant appearance in text: CYBB: 1448G>A
PubMed Link: 26682238
Variant Present in the following documents:
  • Main text
  • mtm201546.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: 1448G>A
PubMed Link: 20729109
Variant Present in the following documents:
  • Main text
View BVdb publication page