CYBB c.1243C>T ;(p.P415S)

Variant ID: X-37664350-C-T

NM_000397.3(CYBB):c.1243C>T;(p.P415S)

This variant was identified in 2 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: CYBB: P415S
PubMed Link: 35796921
Variant Present in the following documents:
  • Main text
  • 10875_2022_Article_1324.pdf
View BVdb publication page



Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: CYBB: P415S
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page