CYBB c.1557del ;(p.E519Dfs*14)

Variant ID: X-37668913-GA-G

NM_000397.3(CYBB):c.1557del;(p.E519Dfs*14)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Case Report: Secondary Hemophagocytic Lymphohistiocytosis With Disseminated Infection in Chronic Granulomatous Disease-A Serious Cause of Mortality.

Frontiers In Immunology
Squire, Jacqueline D JD; Vazquez, Stephanie N SN; Chan, Angela A; Smith, Michele E ME; Chellapandian, Deepak D; Vose, Laura L; Teppa, Beatriz B; Hanson, I Celine IC; Chinn, Ivan K IK; Forbes-Satter, Lisa L; Seeborg, Filiz O FO; Nicholas, Sarah K SK; Martinez, Caridad A CA; Allen, Carl E CE; Connors, Thomas J TJ; Satwani, Prakash P; Shtessel, Maria M; Ale, Hanadys H; Noroski, Lenora M LM; Rider, Nicholas L NL; Milner, Joshua D JD; Leiding, Jennifer W JW
Publication Date: 2020

Variant appearance in text: CYBB: 1557delA
PubMed Link: 33362767
Variant Present in the following documents:
  • Main text
  • fimmu-11-581475.pdf
View BVdb publication page