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.

35 entries on 1 page. Showing entries 1 - 35.
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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.1578+1G>A r.spl? p.? Unknown - pathogenic g.87638210C>T g.86625982C>T - - CNGB3_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 13i c.1578+1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.87638210C>T g.86625982C>T - - CNGB3_000034 - PubMed: Kohl 2000 - - Germline - - - - - DNA SEQ - - ACHM 10958649-FamCHRO4 PubMed: Kohl 2000 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M - - white - - - - 1 Johan den Dunnen
+/. - c.1578+1G>A r.spl p.? Unknown - pathogenic g.87638210C>T g.86625982C>T - - CNGB3_000034 - - - - Unknown - - - - - DNA SEQ - - ? - - - F - - - - - - - 1 IMGAG
+?/. - c.1578+1G>A r.spl p.? Parent #1 - likely pathogenic g.87638210C>T g.86625982C>T - - CNGB3_000034 - PubMed: Holtan 2020 - - Germline - 1/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 1 patient with variant in heterozygous or compound heterozygous form - - Norway - - - - - 1 Global Variome, with Curator vacancy
?/. 13i c.1578+1G>A r.spl? p.? Parent #2 - pathogenic (recessive) g.87638210C>T - 1578+1G>A - CNGB3_000034 - PubMed: Eksandh 2002 - - Germline ? - - - - DNA SEQ - - retinal disease FamHPatII1 PubMed: Eksandh 2002 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Sweden - - - - - 1 Julia Lopez
+?/. - c.1578+1G>A r.spl p.? Parent #2 - likely pathogenic g.87638210C>T g.86625982C>T IVS13+1G>A - CNGB3_000034 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 457 PubMed: Stone 2017 family, 2 affected F - (United States) - - - - - 2 LOVD
+/. 13i c.1578+1G>A r.spl p.? Parent #1 - pathogenic g.87638210C>T g.86625982C>T - - CNGB3_000034 - PubMed: Bernardis 2016 - - Germline - - - - - DNA SEQ-NG - 72-gene panel retinal disease IRD032 PubMed: Bernardis 2016   - - Italy - - - - - 1 LOVD
+/. 13i c.1578+1G>A r.spl p.(?) Maternal (confirmed) ACMG pathogenic g.87638210C>T g.86625982C>T - - CNGB3_000034 - Tracewska 2021, MolVis in press - - Germline yes 0 (in-house database, ~5000 samples) - - - DNA SEQ-NG-I, SEQ blood targeted resequencing using MIPs library prep, 108-gene panel retinal disease 326 Tracewska 2021, MolVis in press proband M no Poland Slavic - - yes - 1 LOVD
+/. 13i c.1578+1G>A r.spl? p.? Unknown - pathogenic g.87638210C>T - c.1578+1G>A - CNGB3_000034 - PubMed: Sundaram_2014 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Sundaram_2014 - M - - - - - - - 1 Julia Lopez
+/. - c.1578+1G>A r.spl p.(?) Unknown - pathogenic g.87638210C>T g.86625982C>T CNGB3: c.[1148delC];[1578+1G>A], p.[R403Q];[?] Splice defect, CNGA3: c.[1320G>A];[=] - CNGB3_000034 - PubMed: Burkhard 2018 - - Germline yes - - - - DNA SEQ-NG, SEQ blood - retinal disease 14 PubMed: Burkhard 2018 - F no - - - - - - 1 LOVD
+?/. - c.1578+1G>A r.spl p.(?) Unknown - likely pathogenic g.87638210C>T g.86625982C>T c.1578+1G-->A, c.819_826del; p.?, p.Arg274Valfs*13 - CNGB3_000034 confirmed with Sanger sequencing; potentially compound heterozygous PubMed: Patel 2019 - - Germline ? - - - - DNA SEQ-NG blood - ACHM3 271 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.1578+1G>A r.spl p.(?) Maternal (confirmed) - likely pathogenic g.87638210C>T g.86625982C>T c.1578+1G-->A, c.1148del; p.?, p.Thr383Ilefs*13 - CNGB3_000034 confirmed with Sanger sequencing; potentially compound heterozygous PubMed: Patel 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ blood - ACHM3 333 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. - c.1578+1G>A r.spl p.(?) Unknown ACMG pathogenic g.87638210C>T g.86625982C>T RPGR c.1731dup, p.(Ala578Serfs*5), CNGB3 c.1578+1G>A, p.(?) - CNGB3_000034 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 253 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+/. - c.1578+1G>A r.spl p.(?) Both (homozygous) - pathogenic g.87638210C>T g.86625982C>T CNGB3 c.1578+1G>A - CNGB3_000034 homozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease OGI2897_004482 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+/. - c.1578+1G>A r.spl p.(?) Unknown - pathogenic g.87638210C>T g.86625982C>T c.1578+1G>A - CNGB3_000034 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease OGI2897_004482 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.1578+1G>A r.spl p.(?) Parent #1 - likely pathogenic g.87638210C>T g.86625982C>T CNGB3, variant 1: c.1148del/p.T383Ifs*13, variant 2: c.1578+1G>A/p.? - CNGB3_000034 solved, compound heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET7 targeted sequencing panel - see paper retinal disease 1280 PubMed: Weisschuh 2020 Filing key number: 1099, achromatopsia, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. 13i c.1578+1G>A r.spl? p.? Unknown - likely pathogenic g.87638210C>T - c.1578+1G>A - CNGB3_000034 - PubMed: Maggi_2021 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - M - Switzerland - - - - - 1 LOVD
+?/. 13i c.1578+1G>A r.spl? p.? Unknown - likely pathogenic g.87638210C>T - c.1578+1G>A - CNGB3_000034 - PubMed: Maggi_2021 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - M - Switzerland - - - - - 1 LOVD
+/. - c.1578+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.87638210C>T g.86625982C>T - - CNGB3_000034 no variant 2nd chromosome PubMed: Weisschuh 2020 - - Germline - - - - - DNA SEQ - - retinal disease CHRO425 PubMed: Weisschuh 2020 - - - - - - - - - 1 Johan den Dunnen
+/. - c.1578+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.87638210C>T g.86625982C>T - - CNGB3_000034 - PubMed: Aweidah 2021 - - Germline - - - - - DNA SEQ - - retinal disease MOL1954-1 PubMed: Aweidah 2021 - - no Yemen;Bulgaria;Ukraine Jewish-mixed - - - - 1 Johan den Dunnen
+/. 13i c.1578+1G>A r.spl p.? Maternal (confirmed) - pathogenic (recessive) g.87638210C>T g.86625982C>T - - CNGB3_000034 - PubMed: Mayer 2017 SCV000575851 - Germline - - - - - DNA SEQ - - retinal disease CHRO1012-26581 PubMed: Mayer 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
+/. 13i c.1578+1G>A r.spl p.? Unknown - pathogenic (recessive) g.87638210C>T g.86625982C>T - - CNGB3_000034 no variant 2nd chromosome (qPCR analysis negative) PubMed: Mayer 2017 SCV000575851 - Germline - - - - - DNA SEQ - - retinal disease CHRO425-14530 PubMed: Mayer 2017 - - - - - - - - - 1 Johan den Dunnen
+/. 13i c.1578+1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.87638210C>T g.86625982C>T - - CNGB3_000034 - PubMed: Mayer 2017 SCV000575851 - Germline - - - - - DNA SEQ - - retinal disease CHRO1069-27700 PubMed: Mayer 2017 6 families, 6 affected - - - - - - - - 6 Johan den Dunnen
+/. 13i c.1578+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.87638210C>T g.86625982C>T - - CNGB3_000034 - PubMed: Mayer 2017 SCV000575851 - Germline - - - - - DNA SEQ - - retinal disease CHRO1069-27774 PubMed: Mayer 2017 family, 1 affected - - - - - - - - 1 Johan den Dunnen
+/. 13i c.1578+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.87638210C>T g.86625982C>T - - CNGB3_000034 - PubMed: Mayer 2017 SCV000575851 - Germline - - - - - DNA SEQ - - retinal disease CHRO1069-27768 PubMed: Mayer 2017 family, 1 affected - - - - - - - - 1 Johan den Dunnen
+/. 13i c.1578+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.87638210C>T g.86625982C>T - - CNGB3_000034 - PubMed: Mayer 2017 SCV000575851 - Germline - - - - - DNA SEQ - - retinal disease CHRO1069-27769 PubMed: Mayer 2017 10 families, 12 affected - - - - - - - - 12 Johan den Dunnen
+/. 13i c.1578+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.87638210C>T g.86625982C>T - - CNGB3_000034 - PubMed: Mayer 2017 SCV000575851 - Germline - - - - - DNA SEQ - - retinal disease CHRO1069-27770 PubMed: Mayer 2017 family, 1 affected - - - - - - - - 1 Johan den Dunnen
+/. 13i c.1578+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.87638210C>T g.86625982C>T - - CNGB3_000034 - PubMed: Mayer 2017 SCV000575851 - Germline - - - - - DNA SEQ - - retinal disease CHRO1069-27771 PubMed: Mayer 2017 family, 1 affected - - - - - - - - 1 Johan den Dunnen
?/. - c.1578+1G>A r.spl? p.? Unknown - VUS g.87638210C>T g.86625982C>T CNBG3 nucleotide 1, protein 1:c.1148delC, p.Thr383Ilefs*13 nucleotide 2, protein 2:c.1578+1G>A, p.? - CNGB3_000034 heterozygous, ACMG unclassified - no access to supplementary table 2 PubMed: Hull 2020 - - Germline ? - - - - DNA ? blood NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families retinal disease 43 PubMed: Hull 2020 - ? - New Zealand white - - - - 1 LOVD
+/. - c.1578+1G>A r.spl p.? Paternal (confirmed) - pathogenic (recessive) g.87638210C>T g.86625982C>T - - CNGB3_000034 - PubMed: Wawrocka 2014 - - Germline - - - - - DNA SEQ - - retinal disease Pat1 PubMed: Wawrocka 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Poland - - - - - 1 Johan den Dunnen
+/. - c.1578+1G>A r.spl p.? Unknown ACMG pathogenic g.87638210C>T g.86625982C>T CNGB3 c.1578+1G>A, p.? - CNGB3_000034 compound heterozygous, probably causal PubMed: Zhu 2022 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ saliva panel-based next generation sequencing retinal disease 9_10 PubMed: Zhu 2022 family 9, individual 10 F - - - - - - - 1 LOVD
+/. - c.1578+1G>A r.spl p.? Unknown ACMG pathogenic (recessive) g.87638210C>T g.86625982C>T - - CNGB3_000034 ACMG PM2, PVS1, PP5 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? ACHM-1287 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
+/. - c.1578+1G>A r.spl p.? Unknown ACMG pathogenic (recessive) g.87638210C>T g.86625982C>T - - CNGB3_000034 ACMG PM2, PVS1, PP5 PubMed: Weisschuh 2024 189031 - Germline - - - - - DNA SEQ-NG - WGS ? ACHM-1220 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
+/. 13i c.1578+1G>A r.spl p.? Parent #2 ACMG pathogenic g.87638210C>T g.86625982C>T - - CNGB3_000034 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 072955 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
+/. 13i c.1578+1G>A r.spl p.? Parent #2 ACMG pathogenic g.87638210C>T g.86625982C>T - - CNGB3_000034 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 080607 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
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