CYBB c.764del ;(p.K255Rfs*14)

Variant ID: X-37658294-TA-T

NM_000397.3(CYBB):c.764del;(p.K255Rfs*14)

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:

Macrophage activation syndrome/haemophagocytic lymphohistiocytosis secondary to Burkholderia cepacia complex septicaemia in an elderly female carrier of X-linked chronic granulomatous disease with extreme lyonisation: 'cepacia syndrome' revisited.

Bmj Case Reports
Urriola, Nicolás N; Williams, Andrew A; Keat, Karuna K
Publication Date: 2019-08-30

Variant appearance in text: CYBB: Lys255Argfs
PubMed Link: 31473638
Variant Present in the following documents:
  • Main text
View BVdb publication page