Full data view for gene CNGB3

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_019098.4 transcript reference sequence.

22 entries on 1 page. Showing entries 1 - 22.
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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     
+?/. - c.886_896del11insT r.(?) p.(Thr296Tyrfs*9) Parent #1 - likely pathogenic g.87666247_87666257delinsA g.86654019_86654029delinsA c.886_896del11insT (p.Arg296fsX) /c.1148delC (p.Thr383fsX) - CNGB3_000042 heterozygous PubMed: Fahim 2013 - - Unknown ? - - - - DNA SEQ blood - retinal disease B4 PubMed: Fahim 2013 - ? - - - - - - - 1 LOVD
+?/. - c.886_896del11insT r.(?) p.(Thr296Tyrfs*9) Parent #1 - likely pathogenic g.87666247_87666257delinsA g.86654019_86654029delinsA c.886_896del11insT (p.Arg296fsX) /c.1148delC (p.Thr383fsX) - CNGB3_000042 heterozygous PubMed: Fahim 2013 - - Unknown ? - - - - DNA SEQ blood - retinal disease B5 PubMed: Fahim 2013 - ? - - - - - - - 1 LOVD
+?/. 7 c.886_896delinsT r.(?) p.(Thr296Tyrfs*9) Unknown - likely pathogenic g.87666247_87666257delinsA - c.886_896del11insT (p.R296YfsX9) - CNGB3_000042 - PubMed: Thiadens_2010 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Thiadens_2010 - M - Netherlands - - - - - 1 LOVD
+?/. 7 c.886_896delinsT r.(?) p.(Thr296Tyrfs*9) Unknown - likely pathogenic g.87666247_87666257delinsA - c.886_896del11insT (p.R296YfsX9) - CNGB3_000042 - PubMed: Thiadens_2010 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Thiadens_2010 - M - Netherlands - - - - - 1 LOVD
+?/. 7 c.886_896delinsT r.(?) p.(Thr296Tyrfs*9) Unknown - likely pathogenic g.87666247_87666257delinsA - c.886_896del11insT (p.R296YfsX9) - CNGB3_000042 - PubMed: Thiadens_2009 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Thiadens_2009 - - - Netherlands - - - - - 4 LOVD
+?/. 7 c.886_896delinsT r.(?) p.(Thr296Tyrfs*9) Unknown - likely pathogenic g.87666247_87666257delinsA - c.886_896del11insT (p.R296YfsX9) - CNGB3_000042 - PubMed: Thiadens_2009 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Thiadens_2009 - - - Netherlands - - - - - 1 LOVD
+?/. - c.886_896delinsT r.(?) p.(Thr296Tyrfs*9) Unknown - likely pathogenic g.87666247_87666257delinsA g.86654019_86654029delinsA c.886_896delinsT, p.Thr296TyrfsTer9 - CNGB3_000042 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease OGI1559_002774 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+/. - c.886_896delinsT r.(?) p.(Thr296TyrfsTer9) Parent #1 - pathogenic (recessive) g.87666247_87666257delinsA g.86654019_86654029delinsA - - CNGB3_000042 no variant 2nd chromosome PubMed: Weisschuh 2020 - - Germline - - - - - DNA SEQ - - retinal disease MDS155 PubMed: Weisschuh 2020 - - - - - - - - - 1 Johan den Dunnen
+/. - c.886_896delinsT r.(?) p.(Thr296TyrfsTer9) Parent #1 - pathogenic (recessive) g.87666247_87666257delinsA g.86654019_86654029delinsA - - CNGB3_000042 - PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ - - retinal disease CHRO99 PubMed: Weisschuh 2020 - - - - - - - - - 1 Johan den Dunnen
+/. - c.886_896delinsT r.(?) p.(Thr296TyrfsTer9) Parent #2 - pathogenic (recessive) g.87666247_87666257delinsA g.86654019_86654029delinsA - - CNGB3_000042 - PubMed: Weisschuh 2020 - - Germline - - - - - DNA SEQ - - retinal disease CHRO483 PubMed: Weisschuh 2020 - - - - - - - - - 1 Johan den Dunnen
+/. 7 c.886_896delinsT r.(?) p.(Thr296TyrfsTer9) Unknown - pathogenic (recessive) g.87666247_87666257delinsA g.86654019_86654029delinsA - - CNGB3_000042 no variant 2nd chromosome (qPCR analysis negative) PubMed: Mayer 2017 SCV000575787 - Germline - - - - - DNA SEQ - - retinal disease CHRO99-26512 PubMed: Mayer 2017 - - - - - - - - - 1 Johan den Dunnen
+/. 7 c.886_896delinsT r.(?) p.(Thr296TyrfsTer9) Unknown - pathogenic (recessive) g.87666247_87666257delinsA g.86654019_86654029delinsA - - CNGB3_000042 no variant 2nd chromosome (qPCR analysis negative) PubMed: Mayer 2017 SCV000575787 - Germline - - - - - DNA SEQ - - retinal disease MDS155-20135 PubMed: Mayer 2017 - - - - - - - - - 1 Johan den Dunnen
+/. 7 c.886_896delinsT r.(?) p.(Thr296TyrfsTer9) Unknown - pathogenic (recessive) g.87666247_87666257delinsA g.86654019_86654029delinsA - - CNGB3_000042 no variant 2nd chromosome (qPCR analysis negative) PubMed: Mayer 2017 SCV000575787 - Germline - - - - - DNA SEQ - - retinal disease ZD54-3870 PubMed: Mayer 2017 - - - - - - - - - 1 Johan den Dunnen
+/. 7 c.886_896delinsT r.(?) p.(Thr296TyrfsTer9) Parent #1 - pathogenic (recessive) g.87666247_87666257delinsA g.86654019_86654029delinsA - - CNGB3_000042 - PubMed: Mayer 2017 SCV000575787 - Germline - - - - - DNA SEQ - - retinal disease CHRO1069-27744 PubMed: Mayer 2017 12 families, 12 affected - - - - - - - - 12 Johan den Dunnen
+/. 7 c.886_896delinsT r.(?) p.(Thr296TyrfsTer9) Parent #1 - pathogenic (recessive) g.87666247_87666257delinsA g.86654019_86654029delinsA - - CNGB3_000042 - PubMed: Mayer 2017 SCV000575787 - Germline - - - - - DNA SEQ - - retinal disease CHRO1069-27760 PubMed: Mayer 2017 family, 1 affected - - - - - - - - 1 Johan den Dunnen
+/. 7 c.886_896delinsT r.(?) p.(Thr296TyrfsTer9) Parent #1 - pathogenic (recessive) g.87666247_87666257delinsA g.86654019_86654029delinsA - - CNGB3_000042 - PubMed: Mayer 2017 SCV000575787 - Germline - - - - - DNA SEQ - - retinal disease CHRO1069-27784 PubMed: Mayer 2017 family, 1 affected - - - - - - - - 1 Johan den Dunnen
+/. 7 c.886_896delinsT r.(?) p.(Thr296TyrfsTer9) Parent #2 - pathogenic (recessive) g.87666247_87666257delinsA g.86654019_86654029delinsA - - CNGB3_000042 - PubMed: Mayer 2017 SCV000575787 - Germline - - - - - DNA SEQ - - retinal disease CHRO1069-27794 PubMed: Mayer 2017 family, 1 affected - - - - - - - - 1 Johan den Dunnen
+/. - c.886_896delinsT r.(?) p.(Thr296TyrfsTer9) Parent #1 - pathogenic (recessive) g.87666247_87666257delinsA g.86654019_86654029delinsA 886_896del11insT - CNGB3_000042 - PubMed: Langlo 2014 - - Germline - - - - - DNA SEQ - - retinal disease CEI-004 PubMed: Langlo 2014 - M - United States - - - - - 1 Johan den Dunnen
+?/. - c.886_896delinsT r.(?) p.(Thr296Tyrfs*9) Parent #1 ACMG likely pathogenic g.87666247_87666257delinsA g.86654019_86654029delinsA c.[886A>T;887_896del] - CNGB3_000042 - PubMed: Hitti-Malin 2022, Journal: Hitti-Malin 2022 - - Germline - - - - - DNA MIPsm - smMIPs 105 iMD/AMD genes retinal disease 070583 PubMed: Hitti-Malin 2022, Journal: Hitti-Malin 2022 - M - - - - - - - 1 Rebekkah Hitti-Malin
+/. 7 c.886_896delinsT r.(?) p.(Thr296TyrfsTer9) Parent #1 ACMG pathogenic g.87666247_87666257delinsA g.86654019_86654029delinsA - - CNGB3_000042 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 067252 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
+/. - c.886_896delinsT r.(?) p.(Thr296TyrfsTer9) Parent #2 ACMG pathogenic (recessive) g.87666247_87666257delinsA g.86654019_86654029delinsA 886_896del11insT - CNGB3_000042 ACMG PVS1, PS4_mod, PM2_sup PubMed: Andersen 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel ACHM Fam207Pat35 PubMed: Andersen 2023 family, 2 affected - no Denmark - - - - - 2 Susanne Kohl
+/. - c.886_896delinsT r.(?) p.(Thr296TyrfsTer9) Parent #2 ACMG pathogenic (recessive) g.87666247_87666257delinsA g.86654019_86654029delinsA 886_896del11insT - CNGB3_000042 ACMG PVS1, PS4_mod, PM2_sup PubMed: Andersen 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel ACHM Fam207Pat36 PubMed: Andersen 2023 sib - no Denmark - - - - - 1 Susanne Kohl
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