CYBB c.897G>A ;(p.K299=)

Variant ID: X-37660601-G-A

NM_000397.3(CYBB):c.897G>A;(p.K299=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: CYBB: K299k
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM10_ESM.xlsx, sheet 2
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: 897G>A
PubMed Link: 20729109
Variant Present in the following documents:
  • Main text
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Rapid genetic analysis of x-linked chronic granulomatous disease by high-resolution melting.

The Journal Of Molecular Diagnostics : Jmd
Hill, Harry R HR; Augustine, Nancy H NH; Pryor, Robert J RJ; Reed, Gudrun H GH; Bagnato, Joshua D JD; Tebo, Anne E AE; Bender, Jeffrey M JM; Pasi, Brian M BM; Chinen, Javier J; Hanson, I Celine IC; de Boer, Martin M; Roos, Dirk D; Wittwer, Carl T CT
Publication Date: 2010-05

Variant appearance in text: CYBB: K299K
PubMed Link: 20228266
Variant Present in the following documents:
  • Main text
View BVdb publication page