Full data view for gene CYBB

Information The variants shown are described using the NM_000397.3 transcript reference sequence.

41 entries on 1 page. Showing entries 1 - 41.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 7 c.676C>T r.(?) p.(Arg226*) Unknown - pathogenic g.37658209C>T g.37798956C>T 688C>T - CYBB_000116 - PubMed: Newburger 1994 - - De novo - - - - - DNA SEQ - - CGDX Pat1/A0132 PubMed: Newburger 1994 - F - United States - - - - - 1 Johan den Dunnen
+/. 7 c.676C>T r.(?) p.(Arg226Ter) Maternal (inferred) - pathogenic (recessive) g.37658209C>T g.37798956C>T 688C>T - CYBB_000116 - PubMed: Rae 1998 - - Germline - - - - - DNA SEQ, SSCA - - CGD A0150 PubMed: Rae 1998 - M - United States - - - - - 1 Johan den Dunnen
+/. 7 c.676C>T r.(?) p.(Arg226Ter) Maternal (inferred) - pathogenic (recessive) g.37658209C>T g.37798956C>T 688C>T - CYBB_000116 - PubMed: Rae 1998 - - Germline - - - - - DNA SEQ, SSCA - - CGD patient PubMed: Rae 1998 - M - United States - - - - - 1 Johan den Dunnen
+/. 7 c.676C>T r.(?) p.(Arg226Ter) Unknown - pathogenic (recessive) g.37658209C>T g.37798956C>T - - CYBB_000116 - PubMed: Rawat 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGDX Pat40 PubMed: Rawat 2021 patient M - India - - - - - 1 Johan den Dunnen
+/. 7 c.676C>T r.(?) p.(Arg226Ter) Unknown - pathogenic (recessive) g.37658209C>T g.37798956C>T - - CYBB_000116 - PubMed: Rawat 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGDX Pat60 PubMed: Rawat 2021 patient M - India - - - - - 1 Johan den Dunnen
+/. 7 c.676C>T r.(?) p.(Arg226Ter) Maternal (confirmed) - pathogenic (recessive) g.37658209C>T g.37798956C>T - - CYBB_000116 - PubMed: Kulkarni 2018 - - Germline - - - - - DNA SEQ - - CGD Pat6 PubMed: Kulkarni 2018 2-generation family, 1 affected, unaffected heterozygous carrier mother M - India - - - - - 1 Johan den Dunnen
+/. 7 c.676C>T r.(?) p.(Arg226Ter) Unknown - pathogenic (recessive) g.37658209C>T g.37798956C>T - - CYBB_000116 - PubMed: Kulkarni 2018 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD Pat53 PubMed: Kulkarni 2018 - M - India - - - - - 1 Johan den Dunnen
+/. 7 c.676C>T r.(?) p.(Arg226Ter) Maternal (confirmed) - pathogenic (recessive) g.37658209C>T g.37798956C>T 576G>T (R226X) - CYBB_000116 - PubMed: Xu 2014, PubMed: Wu 2017 - - Germline - - - - - DNA SEQ - - CGD Pat9 PubMed: Xu 2014, PubMed: Wu 2017 2-generation family, 1 affected, unaffected heterozygous carrier mother M - China - - - - - 1 Johan den Dunnen
+/. 7 c.676C>T r.(?) p.(Arg226Ter) Maternal (confirmed) - pathogenic (recessive) g.37658209C>T g.37798956C>T - - CYBB_000116 - PubMed: Xu 2014, PubMed: Wu 2017 - - Germline - - - - - DNA SEQ - - CGD Pat15 PubMed: Xu 2014, PubMed: Wu 2017 2-generation family, 1 affected, unaffected heterozygous carrier mother M - China - - - - - 1 Johan den Dunnen
+/. 3,4 c.676C>T r.(?) p.(Arg226Ter) Unknown - pathogenic (recessive) g.37658209C>T g.37798956C>T 203_313del111 (Arg226X) - CYBB_000116 - PubMed: Wang 2019 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD Pat36 PubMed: Wang 2019 patient M - China - - - - - 1 Johan den Dunnen
+/. - c.676C>T r.(?) p.(Arg226Ter) Unknown - pathogenic (recessive) g.37658209C>T g.37798956C>T Arg226X - CYBB_000116 - PubMed: Jakobsen 2012 - - Germline - - - - - DNA SEQ - - CGD Pat11 PubMed: Jakobsen 2012 - M - Denmark - - - - - 1 Johan den Dunnen
+/. 7 c.676C>T r.(?) p.(Arg226Ter) Unknown - pathogenic (recessive) g.37658209C>T g.37798956C>T - - CYBB_000116 - PubMed: Ishibashi 2000 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD Pat91-17 PubMed: Ishibashi 2000 - M - Japan - - - - - 1 Johan den Dunnen
+/. 7 c.676C>T r.(?) p.(Arg226Ter) Unknown - pathogenic (recessive) g.37658209C>T g.37798956C>T - - CYBB_000116 - PubMed: Ishibashi 2000 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD Pat91-18 PubMed: Ishibashi 2000 - M - Japan - - - - - 1 Johan den Dunnen
+/. - c.676C>T r.(?) p.(Arg226Ter) Maternal (confirmed) - pathogenic (recessive) g.37658209C>T g.37798956C>T - - CYBB_000116 - PubMed: Gerard 2001 - - Germline - - - - - DNA SEQ - - CGD PatBCH5 PubMed: Gerard 2001 2-generation family, 1 affected, unaffected carrier mother M - France - - - - - 1 Johan den Dunnen
+/. - c.676C>T r.(?) p.(Arg226Ter) Unknown - pathogenic (recessive) g.37658209C>T g.37798956C>T - - CYBB_000116 - PubMed: Wolach 2017 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD - PubMed: Wolach 2017 family, 1 affected M - Israel - - - - - 1 Johan den Dunnen
+/. 7 c.676C>T r.(?) p.(Arg226Ter) Maternal (confirmed) - pathogenic (recessive) g.37658209C>T g.37798956C>T - - CYBB_000116 - PubMed: Zhou 2018 - - Germline - - - - - DNA SEQ - - CGD Pat61 PubMed: Zhou 2018 2-generation family, 1 affected, unaffected heterozygous carrier mother M - China - - - - - 1 Johan den Dunnen
+/. 7 c.676C>T r.(?) p.(Arg226Ter) Unknown - pathogenic (recessive) g.37658209C>T g.37798956C>T - - CYBB_000116 - PubMed: Zhou 2018 - - De novo - - - - - DNA SEQ - - CGD Pat63 PubMed: Zhou 2018 2-generation family, 1 affected, unaffected non-carrier mother M - China - - - - - 1 Johan den Dunnen
+/. 7 c.676C>T r.(?) p.(Arg226Ter) Maternal (confirmed) - pathogenic (recessive) g.37658209C>T g.37798956C>T - - CYBB_000116 - PubMed: Zhou 2018 - - Germline - - - - - DNA SEQ - - CGD Pat67 PubMed: Zhou 2018 2-generation family, 1 affected, unaffected heterozygous carrier mother M - China - - - - - 1 Johan den Dunnen
+/. 7 c.676C>T r.(?) p.(Arg226Ter) Maternal (confirmed) - pathogenic (recessive) g.37658209C>T g.37798956C>T - - CYBB_000116 - PubMed: Zhou 2018 - - Germline - - - - - DNA SEQ - - CGD Pat77 PubMed: Zhou 2018 2-generation family, 1 affected, unaffected heterozygous carrier mother M - China - - - - - 1 Johan den Dunnen
+/. 7 c.676C>T r.(?) p.(Arg226Ter) Maternal (confirmed) - pathogenic (recessive) g.37658209C>T g.37798956C>T - - CYBB_000116 - PubMed: Zhou 2018 - - Germline - - - - - DNA SEQ - - CGD Pat78 PubMed: Zhou 2018 2-generation family, 1 affected, unaffected heterozygous carrier mother M - China - - - - - 1 Johan den Dunnen
+/. 7 c.676C>T r.(?) p.(Arg226Ter) Maternal (confirmed) - pathogenic (recessive) g.37658209C>T g.37798956C>T - - CYBB_000116 - PubMed: Zhou 2018 - - Germline yes - - - - DNA SEQ - - CGD Pat92 PubMed: Zhou 2018 brother M - China - - - - - 1 Johan den Dunnen
+/. 7 c.676C>T r.(?) p.(Arg226Ter) Maternal (confirmed) - pathogenic (recessive) g.37658209C>T g.37798956C>T - - CYBB_000116 - PubMed: Zhou 2018 - - Germline - - - - - DNA SEQ - - CGD Pat107 PubMed: Zhou 2018 2-generation family, 1 affected, unaffected heterozygous carrier mother M - China - - - - - 1 Johan den Dunnen
+/. 7 c.676C>T r.(?) p.(Arg226Ter) Unknown - pathogenic (recessive) g.37658209C>T g.37798956C>T - - CYBB_000116 - PubMed: Zhou 2018 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD Pat134 PubMed: Zhou 2018 - M - China - - - - - 1 Johan den Dunnen
+/. 7 c.676C>T r.(?) p.(Arg226Ter) Unknown - pathogenic (recessive) g.37658209C>T g.37798956C>T - - CYBB_000116 - PubMed: Zhou 2018 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD Pat141 PubMed: Zhou 2018 - M - China - - - - - 1 Johan den Dunnen
+/. 7 c.676C>T r.(?) p.(Arg226Ter) Unknown - pathogenic (recessive) g.37658209C>T g.37798956C>T - - CYBB_000116 - PubMed: Gao 2019 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD Pat33 PubMed: Gao 2019 - M - China - - - - - 1 Johan den Dunnen
+/. 7 c.676C>T r.(?) p.(Arg226Ter) Maternal (confirmed) - pathogenic (recessive) g.37658209C>T g.37798956C>T - - CYBB_000116 - PubMed: Gao 2019 - - Germline - - - - - DNA SEQ - - CGD Pat34 PubMed: Gao 2019 2-generation family, 1 affected, unaffected heterozygous carrier mother M - China - - - - - 1 Johan den Dunnen
+/. 7 c.676C>T r.(?) p.(Arg226Ter) Unknown - pathogenic (recessive) g.37658209C>T g.37798956C>T - - CYBB_000116 - PubMed: Gao 2019 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD Pat35 PubMed: Gao 2019 - M - China - - - - - 1 Johan den Dunnen
+/. 7 c.676C>T r.(?) p.(Arg226Ter) Unknown - pathogenic (recessive) g.37658209C>T g.37798956C>T - - CYBB_000116 - PubMed: Gao 2019 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD Pat36 PubMed: Gao 2019 - M - China - - - - - 1 Johan den Dunnen
+/. 7 c.676C>T r.(?) p.(Arg226Ter) Unknown - pathogenic (recessive) g.37658209C>T g.37798956C>T - - CYBB_000116 - PubMed: Gao 2019 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD Pat37 PubMed: Gao 2019 - M - China - - - - - 1 Johan den Dunnen
+/. 7 c.676C>T r.(?) p.(Arg226Ter) Unknown - pathogenic (recessive) g.37658209C>T g.37798956C>T - - CYBB_000116 - PubMed: Gao 2019 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD Pat38 PubMed: Gao 2019 - M - China - - - - - 1 Johan den Dunnen
+/. 7 c.676C>T r.(?) p.(Arg226Ter) Unknown - pathogenic (recessive) g.37658209C>T g.37798956C>T - - CYBB_000116 - PubMed: Gao 2019 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD Pat39 PubMed: Gao 2019 - M - China - - - - - 1 Johan den Dunnen
+/. 7 c.676C>T r.(?) p.(Arg226Ter) Unknown - pathogenic (recessive) g.37658209C>T g.37798956C>T - - CYBB_000116 - PubMed: Gao 2019 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD Pat40 PubMed: Gao 2019 - M - China - - - - - 1 Johan den Dunnen
+/. 7 c.676C>T r.(?) p.(Arg226Ter) Maternal (confirmed) - pathogenic (recessive) g.37658209C>T g.37798956C>T - - CYBB_000116 - PubMed: Gao 2019 - - Germline - - - - - DNA SEQ - - CGD Pat41 PubMed: Gao 2019 2-generation family, 1 affected, unaffected heterozygous carrier mother M - China - - - - - 1 Johan den Dunnen
+/. 7 c.676C>T r.(?) p.(Arg226Ter) Maternal (confirmed) - pathogenic (recessive) g.37658209C>T g.37798956C>T - - CYBB_000116 - PubMed: Gao 2019 - - Germline - - - - - DNA SEQ - - CGD Pat42 PubMed: Gao 2019 2-generation family, 1 affected, unaffected heterozygous carrier mother M - China - - - - - 1 Johan den Dunnen
+/. 7 c.676C>T r.(?) p.(Arg226Ter) Unknown - pathogenic (recessive) g.37658209C>T g.37798956C>T - - CYBB_000116 - PubMed: Ko 2014 - - Germline - - - - - DNA SEQ - - CGD Pat8 PubMed: Ko 2014 - M - Korea - - - - - 1 Johan den Dunnen
+/. 7 c.676C>T r.(?) p.(Arg226Ter) Maternal (confirmed) - pathogenic (recessive) g.37658209C>T g.37798956C>T - - CYBB_000116 - PubMed: Koker 2013 - - Germline - - - - - DNA SEQ - - CGD Fam9Pat9 PubMed: Koker 2013 family, 1 affected, unaffected heterozygous carrier mother M - Turkey - - - - - 1 Johan den Dunnen
+/. 7 c.676C>T r.(?) p.(Arg226Ter) Maternal (confirmed) - pathogenic (recessive) g.37658209C>T g.37798956C>T - - CYBB_000116 - PubMed: Koker 2013 - - Germline - - - - - DNA SEQ - - CGD Fam10Pat10 PubMed: Koker 2013 family, 2 affected, unaffected heterozygous carrier mother M - Turkey - - - - - 2 Johan den Dunnen
+/. 7 c.676C>T r.(?) p.(Arg226Ter) Maternal (confirmed) - pathogenic (recessive) g.37658209C>T g.37798956C>T - - CYBB_000116 - PubMed: Koker 2013 - - Germline - - - - - DNA SEQ - - CGD Fam10Pat11 PubMed: Koker 2013 relative M - Turkey - - - - - 1 Johan den Dunnen
+/. - c.676C>T r.(?) p.(Arg226Ter) Maternal (confirmed) - pathogenic (recessive) g.37658209C>T g.37798956C>T - - CYBB_000116 - PubMed: Aygun 2020 - - Germline - - - - - DNA SEQ - - CGD Fam3Pat7 PubMed: Aygun 2020 2-generation family, 2 affected, non-affected heterozygous carrier mother M no Turkey - - - - - 2 Johan den Dunnen
+/. - c.676C>T r.(?) p.(Arg226Ter) Maternal (confirmed) - pathogenic (recessive) g.37658209C>T g.37798956C>T - - CYBB_000116 - PubMed: Aygun 2020 - - Germline - - - - - DNA SEQ - - CGD Fam3Pat8 PubMed: Aygun 2020 sib M no Turkey - - - - - 1 Johan den Dunnen
+/. - c.676C>T r.(?) p.(Arg226*) Unknown - pathogenic g.37658209C>T - CYBB(NM_000397.3):c.676C>T (p.R226*) - CYBB_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.