CYBB c.700G>C ;(p.E234Q)

Variant ID: X-37658233-G-C

NM_000397.3(CYBB):c.700G>C;(p.E234Q)

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:

Association of rare variants in genes of immune regulation with pediatric autoimmune CNS diseases.

Journal Of Neurology
Jafarpour, Saba S; Banerjee, Abhik A; Boyd, Natalie K NK; Vogel, Benjamin N BN; Paulsen, Kelli C KC; Ahsan, Nusrat N; Mitchell, Wendy G WG; Jeste, Shafali S SS; Santoro, Jonathan D JD
Publication Date: 2022-12

Variant appearance in text: CGD: Glu234Gln
PubMed Link: 35960392
Variant Present in the following documents:
  • Main text
View BVdb publication page