CYBB c.1683dup ;(p.H562Afs*32)

Variant ID: X-37670139-T-TG

NM_000397.3(CYBB):c.1683dup;(p.H562Afs*32)

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:

Chronic granulomatous disease presenting as aseptic ascites in a 2-year-old child.

Case Reports In Immunology
Moreau, J F JF; Ozolek, John A JA; Lin, P Ling PL; Green, Todd D TD; Cassidy, Elaine A EA; Venkat, Veena L VL; Buchert, Andrew R AR
Publication Date: 2013

Variant appearance in text: CGD: 1683dupG
PubMed Link: 25379308
Variant Present in the following documents:
  • Main text
  • CRII2013-927897.pdf
View BVdb publication page