Full data view for gene CYBB

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

34 entries on 1 page. Showing entries 1 - 34.
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     
+/. _1_13_ c.-61_*2544{0} r.0 p.0 Maternal (inferred) - pathogenic (recessive) g.(?_37639270)_(37672714_?)del g.(?_37780017)_(37813461_?)del del >30kb - CYBB_000005 - PubMed: Rae 1998 - - Germline - - - - - DNA SEQ, SSCA - - CGD A0119 PubMed: Rae 1998 - M - United States - - - - - 1 Johan den Dunnen
+/. _1_13_ c.-61_*2544{0} r.0 p.0 Maternal (inferred) - pathogenic (recessive) g.(?_37639270)_(37672714_?)del g.(?_37780017)_(37813461_?)del del >30kb - CYBB_000005 - PubMed: Rae 1998 - - Germline - - - - - DNA SEQ, SSCA - - CGD A0034 PubMed: Rae 1998 - M - United States - - - - - 1 Johan den Dunnen
+/. _1_13_ c.-61_*2544{0} r.0 p.0 Maternal (inferred) - pathogenic (recessive) g.(?_37639270)_(37672714_?)del g.(?_37780017)_(37813461_?)del del >30kb - CYBB_000005 - PubMed: Rae 1998 - - Germline - - - - - DNA SEQ, SSCA - - CGD patient PubMed: Rae 1998 - M - United States - - - - - 1 Johan den Dunnen
+/. _1_13_ c.-61_*2544{0} r.0 p.0 Maternal (inferred) - pathogenic (recessive) g.(?_37639270)_(37672714_?)del g.(?_37780017)_(37813461_?)del del >30kb - CYBB_000005 - PubMed: Rae 1998 - - Germline - - - - - DNA SEQ, SSCA - - CGD A0169 PubMed: Rae 1998 - M - United States - - - - - 1 Johan den Dunnen
+/. _1_13_ c.-61_*2544{0} r.0 p.0 Maternal (inferred) - pathogenic (recessive) g.(?_37639270)_(37672714_?)del g.(?_37780017)_(37813461_?)del del >30kb - CYBB_000005 - PubMed: Rae 1998 - - Germline - - - - - DNA SEQ, SSCA - - CGD A0201 PubMed: Rae 1998 - M - United States - - - - - 1 Johan den Dunnen
+/. _1_13_ c.-61_*2544{0} r.0 p.0 Maternal (inferred) - pathogenic (recessive) g.(?_37639270)_(37672714_?)del g.(?_37780017)_(37813461_?)del del >30kb - CYBB_000005 - PubMed: Rae 1998 - - Germline - - - - - DNA SEQ, SSCA - - CGD A0167 PubMed: Rae 1998 - M - United States - - - - - 1 Johan den Dunnen
+/. _1_13_ c.-61_*2544{0} r.0 p.0 Maternal (inferred) - pathogenic (recessive) g.(?_37639270)_(37672714_?)del g.(?_37780017)_(37813461_?)del del >30kb - CYBB_000005 - PubMed: Rae 1998 - - Germline - - - - - DNA SEQ, SSCA - - CGD patient PubMed: Rae 1998 - M - United States - - - - - 1 Johan den Dunnen
+/. _1_13_ c.-61_*2544{0} r.0? p.0? Unknown - pathogenic (recessive) g.(?_37639270)_(37672714_?)del g.(?_37780017)_(37813461_?)del (1-?_1710+?)del - CYBB_000005 - PubMed: He 2014, PubMed: Xu 2014, PubMed: Wu 2017 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD Pat133;Pat35 PubMed: He 2014, PubMed: Xu 2014, PubMed: Wu 2017 patient M - China - - - - - 1 Johan den Dunnen
+/. _1_13_ c.-61_*2544{0} r.0 p.0 Unknown - pathogenic (recessive) g.(?_37639270)_(37672714_?)del g.(?_37780017)_(37813461_?)del gp91 large deletion - CYBB_000005 - PubMed: Kutukculer 2019 - - Germline - - - - - DNA SEQ - - CGD Pat1 PubMed: Kutukculer 2019 - M - Turkey - - - - - 1 Johan den Dunnen
+/. _1_13_ c.-61_*2544{0} r.0 p.0 Unknown - pathogenic (recessive) g.(?_37639270)_(37672714_?)del g.(?_37780017)_(37813461_?)del - - CYBB_000005 500Kb multigene deletion Okubo 1992, PubMed: Ishibashi 2000 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD Pat91-43 Okubo 1992, PubMed: Ishibashi 2000 - M - Japan - - - - - 1 Johan den Dunnen
+/. _1_13_ c.-61_*2544{0} r.0 p.0 Unknown - pathogenic (recessive) g.(?_37639270)_(37672714_?)del g.(?_37780017)_(37813461_?)del - - CYBB_000005 500Kb multigene deletion PubMed: Ishibashi 2000 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD patient;Pat91-44 PubMed: Ishibashi 2000 - M - Japan - - - - - 1 Johan den Dunnen
+/. _1_13_ c.-61_*2544{0} r.0 p.0 Unknown - pathogenic (recessive) g.(?_37639270)_(37672714_?)del g.(?_37780017)_(37813461_?)del del CYBB gene - CYBB_000005 - PubMed: Wolach 2017 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD - PubMed: Wolach 2017 family, 1 affected M - Israel - - - - - 1 Johan den Dunnen
+/. _1_13_ c.-61_*2544{0} r.0 p.0 Unknown - pathogenic (recessive) g.(?_37639270)_(37672714_?)del g.(?_37780017)_(37813461_?)del del ex1-13 - CYBB_000005 - PubMed: Zhou 2018 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD Pat143 PubMed: Zhou 2018 - M - China - - - - - 1 Johan den Dunnen
+/. _1_13_ c.-61_*2544{0} r.0 p.0 Unknown - pathogenic (recessive) g.(?_37639270)_(37672714_?)del g.(?_37780017)_(37813461_?)del del ex1-13 - CYBB_000005 - PubMed: Zhou 2018 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD Pat144 PubMed: Zhou 2018 - M - China - - - - - 1 Johan den Dunnen
+/. _1_13_ c.-61_*2544{0} r.0 p.0 Unknown - pathogenic (recessive) g.(?_37639270)_(37672714_?)del g.(?_37780017)_(37813461_?)del del ex1-13 - CYBB_000005 - PubMed: Zhou 2018 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD Pat146 PubMed: Zhou 2018 - M - China - - - - - 1 Johan den Dunnen
+/. _1_13_ c.-61_*2544{0} r.0 p.0 Unknown - pathogenic (recessive) g.(?_37639270)_(37672714_?)del g.(?_37780017)_(37813461_?)del del ex1-13 - CYBB_000005 - PubMed: Zhou 2018 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD Pat147 PubMed: Zhou 2018 - M - China - - - - - 1 Johan den Dunnen
+/. _1_13_ c.-61_*2544{0} r.0 p.0 Maternal (confirmed) - pathogenic (recessive) g.(?_37639270)_(37672714_?)del g.(?_37780017)_(37813461_?)del del ex 1-13 - CYBB_000005 - PubMed: Gao 2019 - - Germline - - - - - DNA SEQ - - CGD Pat98 PubMed: Gao 2019 2-generation family, 1 affected, unaffected heterozygous carrier mother M - China - - - - - 1 Johan den Dunnen
+/. _1_13_ c.-61_*2544{0} r.0 p.0 Unknown - pathogenic (recessive) g.(?_37639270)_(37672714_?)del g.(?_37780017)_(37813461_?)del del ex 1-13 - CYBB_000005 - PubMed: Gao 2019 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD Pat99 PubMed: Gao 2019 - M - China - - - - - 1 Johan den Dunnen
+/. _1_13_ c.-61_*2544{0} r.0 p.0 Unknown - pathogenic (recessive) g.(?_37639270)_(37672714_?)del g.(?_37780017)_(37813461_?)del gross deletion - CYBB_000005 - PubMed: Ko 2014 - - Germline - - - - - DNA SEQ - - CGD Pat1 PubMed: Ko 2014 - M - Korea - - - - - 1 Johan den Dunnen
+/. _1_13_ c.-61_*2544{0} r.0 p.0 Maternal (confirmed) - pathogenic (recessive) g.(?_37639270)_(37672714_?)del g.(?_37780017)_(37813461_?)del CYBB del - CYBB_000005 - PubMed: Koker 2013 - - Germline - - - - - DNA SEQ - - CGD Fam23Pat29 PubMed: Koker 2013 family, 1 affected, unaffected heterozygous carrier mother/female relatives M - Turkey - - - - - 1 Johan den Dunnen
+/. _1_13_ c.-61_*2544{0} r.0 p.0 Maternal (confirmed) - pathogenic (recessive) g.(?_37639270)_(37672714_?)del g.(?_37780017)_(37813461_?)del CYBB del - CYBB_000005 - PubMed: Koker 2013 - - Germline - - - - - DNA SEQ - - CGD Fam24Pat30 PubMed: Koker 2013 family, 1 affected, unaffected heterozygous carrier mother/female relatives M - Turkey - - - - - 1 Johan den Dunnen
+/. _1_13_ c.-61_*2544{0} r.0 p.0 Unknown - pathogenic (recessive) g.(?_37639270)_(37672714_?)del g.(?_37780017)_(37813461_?)del CYBB del - CYBB_000005 - PubMed: Koker 2013 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD Fam25Pat31 PubMed: Koker 2013 - M - Turkey - - - - - 1 Johan den Dunnen
+/. - c.-61_*2544{0} r.0 p.0 Maternal (confirmed) - pathogenic (recessive) g.(?_37639270)_(37672714_?)del g.(?_37780017)_(37813461_?)del del CYBB - CYBB_000005 - PubMed: Aygun 2020 - - Germline - - - - - DNA SEQ - - CGD Fam8Pat15 PubMed: Aygun 2020 2-generation family, 1 affected, non-affected heterozygous carrier mother M no Turkey - - - - - 1 Johan den Dunnen
+/. _1_13_ c.-61_*2544{0} r.0 p.0 Maternal (confirmed) - pathogenic g.37607818_37672764del g.37748565_37813511del hg17 37364030-37428980del64950 - CYBB_000005 - PubMed: Arai 2012 - - Germline - - - - - DNA arrayCGH, SEQ - - CGD 22383943-Pat1 PubMed: Arai 2012 carrier mother M - Japan - - - - - 1 Johan den Dunnen
+/. _1_13_ c.-61_*2544{0} r.0 p.0 Maternal (confirmed) - pathogenic (recessive) g.(30300000_30577566)_(38080045_38200000)del - hg19 30577566-38080045del - CYBB_000005 7.5Mb deletion incl. GK, DMD, CFAP47, CYBB, XK, RPGR PubMed: Bi 2023 - - Germline - - - - - DNA SEQ-NG - CNVseq ? patient PubMed: Bi 2023 2-generation family, 1 affected, unaffected carrier mother/sister M - China - 00y03m - - - 1 Johan den Dunnen
+/. _1_13_ c.-61_*2544{0} r.0 p.0 Maternal (confirmed) - pathogenic (recessive) g.31683517_37789444del - - - CYBB_000005 - PubMed: Peng 2007 - - Germline - - - - - DNA PCR, SEQ - - CGD Pat2 PubMed: Peng 2007 2-generation family, 1 affected, unaffected carrier mother M - United States - - - - - 1 Johan den Dunnen
+/. _1_13_ c.-61_*2544{0} r.0 p.0 Maternal (confirmed) - pathogenic (recessive) g.37607818_37672762del g.37748565_37813509del hg17 37364030_37428980del64950 - CYBB_000005 58.7kb deletion PubMed: Arai 2012 - - Germline - - - - - DNA arrayCGH, PCR, SEQ - - CGDX Pat1(A1472) PubMed: Arai 2012 2-generation family, 1 affected, heterozygous carrier mother M - Japan - - - - - 1 Johan den Dunnen
+/. _1_13_ c.-61_*2544{0} r.0 p.0 Maternal (confirmed) - pathogenic (recessive) g.(37372045_37372104)_(37965797_37965856)del - hg17 g.(37128233_37128292)_(37722014_37722073)del - CYBB_000005 593.8kb deletion incl. XK, CYBB, DYNLT3 PubMed: Arai 2012 - - Germline - - - - - DNA arrayCGH - - CGDX Pat3 PubMed: Arai 2012 2-generation family, 1 affected, heterozygous carrier mother M - Japan - - - - - 1 Johan den Dunnen
+/. _1_13_ c.-61_*2544{0} r.0 p.0 Unknown - pathogenic (recessive) g.(35839374_35839433)_(37787250_37787309)del - hg17 chrX:g.(35599031_35599090)_(37543467_37543526)del - CYBB_000005 1944.5kb deletion incl. XK, CYBB, DYNLT3; mother not avaliable PubMed: Arai 2012 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - CGDX Pat4 PubMed: Arai 2012 family, 1 affected M - Japan - - - - - 1 Johan den Dunnen
+/. _1_13_ c.-61_*2544{0} r.0 p.0 Maternal (confirmed) - pathogenic (recessive) g.(32407730_32407789)_(38122529_38122588)del - hg17 g.(32167387_32167446)_(37878746_37878805)del - CYBB_000005 5711.4kb deletion incl. DMD, XK, CYBB, DYNLT3 PubMed: Arai 2012 - - Germline - - - - markedly skewed X-inactivation (nromal chromosome inactive) DNA arrayCGH - - CGDX Pat5(A1445) PubMed: Arai 2012 2-generation family, 1 affected, heterozygous carrier mother M - Japan - - - - - 1 Johan den Dunnen
+/. _1_13_ c.-61_*2544{0} r.0 p.0 Maternal (confirmed) - pathogenic (recessive) g.37015744_37854516delins37007623_37007658 - hg17 36775400-37610734delins36 - CYBB_000005 deletion incl. XK, CYBB; insertionTGGAGCAAGGTAACTGGAATGTCCTGCTAGCTTCCC PubMed: Yamada 2010 - - Germline yes - - - - DNA arrayCGH, PCR, SEQ - - CGDX Pat2 PubMed: Yamada 2010 2-generation family, 2 affected brothers, unaffected carrier mother M - Japan - - - - - 2 Johan den Dunnen
+/. _1_13_ c.-61_*2544{0} r.0 p.0 Unknown - pathogenic (recessive) g.(?_37545133)_(37706889_?)del g.(?_37685880)_(37847636_?)del del gene - CYBB_000005 deletion incl. XK, CYBB, DYNLT3 PubMed: Xu 2014, PubMed: Wu 2017 - - Germline/De novo (untested) - - - - - DNA SEQ, PCR - - CGD Pat23(A1446) PubMed: Xu 2014, PubMed: Wu 2017 patient M - China - - - - - 1 Johan den Dunnen
+/. _1_13_ c.-61_*2544{0} r.0 p.0 Unknown - pathogenic (recessive) g.(?_37545133)_(37672714_?)del g.(?_37685880)_(37813461_?)del del ex 1-13 - CYBB_000005 - PubMed: Gao 2019 - - Germline/De novo (untested) - - - - - DNA SEQ - - CGD Pat100 PubMed: Gao 2019 - M - China - - - - - 1 Johan den Dunnen
+/. _1_13_ c.-61_*2544{0} r.0 p.0 Maternal (confirmed) - pathogenic (recessive) g.(?_37545133)_(37672714_?)del g.(?_37685880)_(37813461_?)del del ex 1-13 - CYBB_000005 - PubMed: Gao 2019 - - Germline - - - - - DNA SEQ - - CGD Pat101 PubMed: Gao 2019 2-generation family, 1 affected, unaffected heterozygous carrier mother M - China - - - - - 1 Johan den Dunnen
Legend   How to query  


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