CYBB c.521T>C ;(p.L174S)

Variant ID: X-37655241-T-C

NM_000397.3(CYBB):c.521T>C;(p.L174S)

This variant was identified in 2 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

The three CYBA variants (rs4673, rs1049254 and rs1049255) are benign: new evidence from a patient with CGD.

Bmc Medical Genetics
Sun, Jinqiao J; Wen, Min M; Wang, Ying Y; Liu, Danru D; Ying, Wenjing W; Wang, Xiaochuan X
Publication Date: 2017-11-13

Variant appearance in text: CYBB: 521T>C
PubMed Link: 29132304
Variant Present in the following documents:
  • 12881_2017_Article_492.pdf
View BVdb publication page


Invariant local conformation in p22phox p.Y72H polymorphisms suggested by mass spectral analysis of crosslinked human neutrophil flavocytochrome b.

Biochimie
Taylor, Ross M RM; Dratz, Edward A EA; Jesaitis, Algirdas J AJ
Publication Date: 2011-09

Variant appearance in text: CGD: 521T>C
PubMed Link: 21640156
Variant Present in the following documents:
  • Main text
View BVdb publication page