CYBB c.742_743delinsTG ;(p.I248C)

Variant ID: X-37658275-AT-TG

NM_000397.3(CYBB):c.742_743delinsTG;(p.I248C)

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:

Insights into the structure and function of HV1 from a meta-analysis of mutation studies.

The Journal Of General Physiology
DeCoursey, Thomas E TE; Morgan, Deri D; Musset, Boris B; Cherny, Vladimir V VV
Publication Date: 2016-08

Variant appearance in text: NOX2: I248C
PubMed Link: 27481712
Variant Present in the following documents:
  • JGP_201611619.pdf
View BVdb publication page