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CYBB c.214T>C ;(p.C72R)
Variant ID: X-37642815-T-C
NM_000397.3(
CYBB
):c.214T>C;(p.C72R)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
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: 214T>C
PubMed Link:
21640156
Variant Present in the following documents:
Main text
View BVdb publication page