Full data view for gene CYBB

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

36 entries on 1 page. Showing entries 1 - 36.
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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     
+/. 3i c.252G>A r.spl? p.? Maternal (inferred) - pathogenic (recessive) g.37642853G>A g.37783600G>A 264G>A - CYBB_000138 - PubMed: Rae 1998 - - Germline - - - - - DNA SEQ, SSCA - - CGD A0100 PubMed: Rae 1998 - M - United States - - - - - 1 Johan den Dunnen
+/. 3i c.252G>A r.[142_252del,=] p.[Ser48_Ala84del,Ala84=] Maternal (inferred) - pathogenic (recessive) g.37642853G>A g.37783600G>A 264G>A - CYBB_000138 - PubMed: Rae 1998 - - Germline - - - - - DNA SEQ, SSCA - - CGD patient PubMed: Rae 1998 - M - United States - - - - - 1 Johan den Dunnen
+/. 3i c.252G>A r.142_252del p.Ser48_Ala84del Maternal (inferred) - pathogenic (recessive) g.37642853G>A g.37783600G>A 264G>A - CYBB_000138 - PubMed: Rae 1998 - - Germline - - - - - DNA SEQ, SSCA - - CGD A0193 PubMed: Rae 1998 - M - United States - - - - - 1 Johan den Dunnen
+/. 3i c.252G>A r.spl p.? Maternal (inferred) - pathogenic (recessive) g.37642853G>A g.37783600G>A 264G>A - CYBB_000138 - PubMed: Rae 1998 - - Germline - - - - - DNA SEQ, SSCA - - CGD A0127 PubMed: Rae 1998 - M - United States - - - - - 1 Johan den Dunnen
+/. 3 c.252G>A r.(142_252del) p.(Ser48_Ala84del) Unknown - pathogenic (recessive) g.37642853G>A g.37783600G>A - - CYBB_000138 - PubMed: Rawat 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGDX Pat21 PubMed: Rawat 2021 patient M - India - - - - - 1 Johan den Dunnen
+/. 3 c.252G>A r.(142_252del) p.(Ser48_Ala84del) Unknown - pathogenic (recessive) g.37642853G>A g.37783600G>A - - CYBB_000138 - PubMed: Rawat 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGDX Pat35 PubMed: Rawat 2021 patient M - India - - - - - 1 Johan den Dunnen
+/. 3 c.252G>A r.(142_252del) p.(Ser48_Ala84del) Unknown - pathogenic (recessive) g.37642853G>A g.37783600G>A - - CYBB_000138 - PubMed: Rawat 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGDX Pat36 PubMed: Rawat 2021 patient M - India - - - - - 1 Johan den Dunnen
+/. 3 c.252G>A r.(142_252del) p.(Ser48_Ala84del) Unknown - pathogenic (recessive) g.37642853G>A g.37783600G>A - - CYBB_000138 - PubMed: Rawat 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGDX Pat45 PubMed: Rawat 2021 patient M - India - - - - - 1 Johan den Dunnen
+/. 3 c.252G>A r.(142_252del) p.(Ser48_Ala84del) Unknown - pathogenic (recessive) g.37642853G>A g.37783600G>A - - CYBB_000138 - PubMed: Rawat 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGDX Pat59 PubMed: Rawat 2021 patient M - India - - - - - 1 Johan den Dunnen
+/. 3 c.252G>A r.spl p.? Maternal (confirmed) - pathogenic (recessive) g.37642853G>A g.37783600G>A - - CYBB_000138 - PubMed: Kulkarni 2018 - - Germline - - - - - DNA SEQ - - CGD Pat122 PubMed: Kulkarni 2018 2-generation family, 1 affected, unaffected heterozygous carrier mother M - India - - - - - 1 Johan den Dunnen
+/. 3 c.252G>A r.142_252del p.Ser48_Ala84del Maternal (confirmed) - pathogenic (recessive) g.37642853G>A g.37783600G>A - - CYBB_000138 - PubMed: Wang 2019 - - Germline - - - - - DNA SEQ - - CGD Pat5 PubMed: Wang 2019 2-generation family, 1 affected, unaffected heterozygous carrier mother M - China - - - - - 1 Johan den Dunnen
+/. 3 c.252G>A r.142_252del p.Ser48_Ala84del Maternal (confirmed) - pathogenic (recessive) g.37642853G>A g.37783600G>A - - CYBB_000138 - PubMed: Wang 2019 - - Germline - - - - - DNA SEQ - - CGD Pat42 PubMed: Wang 2019 2-generation family, 1 affected, unaffected heterozygous carrier mother M - China - - - - - 1 Johan den Dunnen
+/. 3 c.252G>A r.142_252del p.Ser48_Ala84del Unknown - pathogenic (recessive) g.37642853G>A g.37783600G>A - - CYBB_000138 - PubMed: Wang 2019 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD Pat62 PubMed: Wang 2019 patient M - China - - - - - 1 Johan den Dunnen
+/. 3 c.252G>A r.142_252del p.Ser48_Ala84del Maternal (confirmed) - pathogenic (recessive) g.37642853G>A g.37783600G>A - - CYBB_000138 - PubMed: Wang 2019 - - Germline - - - - - DNA SEQ - - CGD Pat64 PubMed: Wang 2019 2-generation family, 1 affected, unaffected heterozygous carrier mother M - China - - - - - 1 Johan den Dunnen
+/. 3 c.252G>A r.142_252del p.Ser48_Ala84del Unknown - pathogenic (recessive) g.37642853G>A g.37783600G>A - - CYBB_000138 - PubMed: He 2010, PubMed: Wu 2017 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD Pat56 PubMed: He 2010, PubMed: Wu 2017 patient M - China - - - - - 1 Johan den Dunnen
+/. 3 c.252G>A r.142_252del p.Ser48_Ala84del Unknown - pathogenic (recessive) g.37642853G>A g.37783600G>A - - CYBB_000138 - PubMed: He 2010, PubMed: Wu 2017 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD Pat57 PubMed: He 2010, PubMed: Wu 2017 patient M - China - - - - - 1 Johan den Dunnen
+/. 3 c.252G>A r.(142_252del) p.(Ser48_Ala84del) Unknown - pathogenic (recessive) g.37642853G>A g.37783600G>A - - CYBB_000138 - PubMed: Ariga 1998, PubMed: Ishibashi 2000 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD Pat91-6 PubMed: Ishibashi 2000 - M - Japan - - - - - 1 Johan den Dunnen
+/. 3 c.252G>A r.(142_252del) p.(Ser48_Ala84del) Unknown - pathogenic (recessive) g.37642853G>A g.37783600G>A - - CYBB_000138 - PubMed: Ishibashi 2000 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD Pat91-7 PubMed: Ishibashi 2000 - M - Japan - - - - - 1 Johan den Dunnen
+/. 3 c.252G>A r.(142_252del) p.(Ser48_Ala84del) Maternal (confirmed) - pathogenic (recessive) g.37642853G>A g.37783600G>A - - CYBB_000138 - PubMed: Zhou 2018 - - Germline - - - - - DNA SEQ - - CGD Pat33 PubMed: Zhou 2018 2-generation family, 1 affected, unaffected heterozygous carrier mother M - China - - - - - 1 Johan den Dunnen
+/. 3 c.252G>A r.(142_252del) p.(Ser48_Ala84del) Unknown - pathogenic (recessive) g.37642853G>A g.37783600G>A - - CYBB_000138 - PubMed: Zhou 2018 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD Pat34 PubMed: Zhou 2018 - M - China - - - - - 1 Johan den Dunnen
+/. 3 c.252G>A r.(142_252del) p.(Ser48_Ala84del) Maternal (confirmed) - pathogenic (recessive) g.37642853G>A g.37783600G>A - - CYBB_000138 - PubMed: Zhou 2018 - - Germline - - - - - DNA SEQ - - CGD Pat56 PubMed: Zhou 2018 2-generation family, 1 affected, unaffected heterozygous carrier mother M - China - - - - - 1 Johan den Dunnen
+/. 3 c.252G>A r.(142_252del) p.(Ser48_Ala84del) Maternal (confirmed) - pathogenic (recessive) g.37642853G>A g.37783600G>A - - CYBB_000138 - PubMed: Zhou 2018 - - Germline - - - - - DNA SEQ - - CGD Pat71 PubMed: Zhou 2018 2-generation family, 2 affected brothers, unaffected heterozygous carrier mother M - China - - - - - 2 Johan den Dunnen
+/. 3 c.252G>A r.(142_252del) p.(Ser48_Ala84del) Maternal (confirmed) - pathogenic (recessive) g.37642853G>A g.37783600G>A - - CYBB_000138 - PubMed: Zhou 2018 - - Germline - - - - - DNA SEQ - - CGD Pat91 PubMed: Zhou 2018 2-generation family, 1 affected, unaffected heterozygous carrier mother M - China - - - - - 1 Johan den Dunnen
+/. 3 c.252G>A r.(142_252del) p.(Ser48_Ala84del) Maternal (confirmed) - pathogenic (recessive) g.37642853G>A g.37783600G>A - - CYBB_000138 - PubMed: Zhou 2018 - - Germline - - - - - DNA SEQ - - CGD Pat93 PubMed: Zhou 2018 2-generation family, 1 affected, unaffected heterozygous carrier mother M - China - - - - - 1 Johan den Dunnen
+/. 3i c.252G>A r.(142_252del) p.(Ser48_Ala84del) Maternal (confirmed) - pathogenic (recessive) g.37642853G>A g.37783600G>A - - CYBB_000138 - PubMed: Zhou 2018 - - Germline - - - - - DNA SEQ - - CGD Pat98 PubMed: Zhou 2018 2-generation family, 1 affected, unaffected heterozygous carrier mother M - China - - - - - 1 Johan den Dunnen
+/. 3 c.252G>A r.(142_252del) p.(Ser48_Ala84del) Maternal (confirmed) - pathogenic (recessive) g.37642853G>A g.37783600G>A - - CYBB_000138 - PubMed: Zhou 2018 - - Germline - - - - - DNA SEQ - - CGD Pat109 PubMed: Zhou 2018 2-generation family, 1 affected, unaffected heterozygous carrier mother M - China - - - - - 1 Johan den Dunnen
+/. 3 c.252G>A r.(142_252del) p.(Ser48_Ala84del) Maternal (confirmed) - pathogenic (recessive) g.37642853G>A g.37783600G>A - - CYBB_000138 - PubMed: Gao 2019 - - Germline - - - - - DNA SEQ - - CGD Pat10 PubMed: Gao 2019 2-generation family, 1 affected, unaffected heterozygous carrier mother M - China - - - - - 1 Johan den Dunnen
+/. 3 c.252G>A r.(142_252del) p.(Ser48_Ala84del) Maternal (confirmed) - pathogenic (recessive) g.37642853G>A g.37783600G>A - - CYBB_000138 - PubMed: Gao 2019 - - Germline - - - - - DNA SEQ - - CGD Pat11 PubMed: Gao 2019 2-generation family, 1 affected, unaffected heterozygous carrier mother M - China - - - - - 1 Johan den Dunnen
+/. 3 c.252G>A r.(142_252del) p.(Ser48_Ala84del) Unknown - pathogenic (recessive) g.37642853G>A g.37783600G>A - - CYBB_000138 - PubMed: Gao 2019 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD Pat12 PubMed: Gao 2019 - M - China - - - - - 1 Johan den Dunnen
+/. 3 c.252G>A r.(142_252del) p.(Ser48_Ala84del) Unknown - pathogenic (recessive) g.37642853G>A g.37783600G>A - - CYBB_000138 - PubMed: Gao 2019 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD Pat13 PubMed: Gao 2019 - M - China - - - - - 1 Johan den Dunnen
+/. 3 c.252G>A r.(142_252del) p.(Ser48_Ala84del) Unknown - pathogenic (recessive) g.37642853G>A g.37783600G>A - - CYBB_000138 - PubMed: Gao 2019 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD Pat14 PubMed: Gao 2019 - M - China - - - - - 1 Johan den Dunnen
+/. 3 c.252G>A r.142_254del p.Ser48_Ala84del Maternal (confirmed) - pathogenic (recessive) g.37651227G>A - G264>A - CYBB_000138 - PubMed: Hui 1996 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CGDX Pat7 PubMed: Hui 1996 2-generation family, 1 affected, unaffected carrier mother M - Hong Kong - - - - - 1 Johan den Dunnen
+/. 3i c.253-1G>A r.(253_337del) p.? Unknown - pathogenic (recessive) g.37651227G>A g.37791974G>A - - CYBB_000138 - PubMed: Wu 2017 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD Pat8 PubMed: Wu 2017 patient M - China - - - - - 1 Johan den Dunnen
+/. 3i c.253-1G>A r.spl p.(Cys85SerfsTer13) Unknown - pathogenic (recessive) g.37651227G>A g.37791974G>A - - CYBB_000138 - PubMed: Raptaki 2013 - - Germline - - - - - DNA SEQ - - CGD PatE PubMed: Raptaki 2013 - M - Greece - - - - - 1 Johan den Dunnen
+/. 3i c.253-1G>A r.253_266del p.Cys85SerfsTer13 Unknown - pathogenic (recessive) g.37651227G>A g.37791974G>A - - CYBB_000138 - PubMed: Jakobsen 2012 - - Germline - - - - - DNA SEQ - - CGD Pat14 PubMed: Jakobsen 2012 - M - Denmark - - - - - 1 Johan den Dunnen
+/. 3i c.253-1G>A r.(253_337del) p.(Cys85SerfsTer13) Unknown - pathogenic (recessive) g.37651227G>A g.37791974G>A - - CYBB_000138 - PubMed: Gao 2019 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD Pat115 PubMed: Gao 2019 - M - China - - - - - 1 Johan den Dunnen
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