Full data view for gene CNGA3

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_001298.2 transcript reference sequence.

17 entries on 1 page. Showing entries 1 - 17.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

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.1074G>A r.(?) p.(Trp358Ter) - Unknown - pathogenic g.99012707G>A g.98396244G>A CNGA3(NM_001298.3):c.1074G>A (p.W358*) - CNGA3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1074G>A r.(?) p.(Trp358Ter) - Parent #1 - likely pathogenic (recessive) g.99012707G>A g.98396244G>A - - CNGA3_000018 - PubMed: Li 2014, PubMed: Huang 2016 - - Germline - - - - - DNA SEQ - - retinal disease QT172 PubMed: Li 2014, PubMed: Huang 2016 see paper ... - - China - - - - - 1 Johan den Dunnen
+?/. - c.1074G>A r.(?) p.(Trp358Ter) - Parent #1 - likely pathogenic (recessive) g.99012707G>A g.98396244G>A - - CNGA3_000018 - PubMed: Li 2014, PubMed: Huang 2016 - - Germline - - - - - DNA SEQ - - retinal disease QT189 PubMed: Li 2014, PubMed: Huang 2016 see paper ... - - China - - - - - 1 Johan den Dunnen
+?/. - c.1074G>A r.(?) p.(Trp358Ter) - Parent #1 - likely pathogenic (recessive) g.99012707G>A g.98396244G>A - - CNGA3_000018 - PubMed: Li 2014, PubMed: Huang 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease QT382 PubMed: Li 2014, PubMed: Huang 2016 see paper ... - - China - - - - - 1 Johan den Dunnen
+?/. - c.1074G>A r.(?) p.(Trp358Ter) - Parent #2 - likely pathogenic (recessive) g.99012707G>A g.98396244G>A - - CNGA3_000018 - PubMed: Li 2014, PubMed: Huang 2016 - - Germline - - - - - DNA SEQ - - retinal disease LH20 PubMed: Li 2014, PubMed: Huang 2016 see paper ... - - China - - - - - 1 Johan den Dunnen
+?/. - c.1074G>A r.(?) p.(Trp358Ter) - Parent #2 - likely pathogenic (recessive) g.99012707G>A g.98396244G>A - - CNGA3_000018 - PubMed: Li 2014, PubMed: Huang 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease QT352 PubMed: Li 2014, PubMed: Huang 2016 see paper ... - - China - - - - - 1 Johan den Dunnen
+?/. - c.1074G>A r.(?) p.(Trp358Ter) - Parent #2 - likely pathogenic (recessive) g.99012707G>A g.98396244G>A - - CNGA3_000018 - PubMed: Li 2014, PubMed: Huang 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease QT583 PubMed: Li 2014, PubMed: Huang 2016 see paper ... - - China - - - - - 1 Johan den Dunnen
+?/. - c.1074G>A r.(?) p.(Trp358Ter) - Parent #2 - likely pathogenic (recessive) g.99012707G>A g.98396244G>A - - CNGA3_000018 - PubMed: Li 2014, PubMed: Huang 2016 - - Germline - - - - - DNA SEQ - - retinal disease QT1099 PubMed: Li 2014, PubMed: Huang 2016 see paper ... - - China - - - - - 1 Johan den Dunnen
+?/. - c.1074G>A r.(?) p.(Trp358*) - Unknown - likely pathogenic g.99012707G>A g.98396244G>A c.1074G>A, p.(Trp358*) - CNGA3_000018 compound heterozygous PubMed: Wang 2019 - - Germline yes - - - - DNA SEQ-NG blood panel of 126 genes retinal disease 13556 PubMed: Wang 2019 - F - China - - - - - 1 LOVD
+?/. - c.1074G>A r.(?) p.(Trp358*) - Unknown - likely pathogenic g.99012707G>A g.98396244G>A c.1074G>A, p.(Trp358*) - CNGA3_000018 compound heterozygous PubMed: Wang 2019 - - Germline yes - - - - DNA SEQ-NG blood panel of 126 genes retinal disease 14652 PubMed: Wang 2019 - M - China - - - - - 1 LOVD
+?/. - c.1074G>A r.(?) p.(Trp358*) - Parent #2 - likely pathogenic g.99012707G>A g.98396244G>A CNGA3 c.[464del];[1074G>A] - CNGA3_000018 heterozygous; protein change not reported PubMed: Sun 2020 - - Unknown yes - - - - DNA SEQ-NG blood Whole-exome or targeted sequencing retinal disease 15095 PubMed: Sun 2020 - M - China - - - - - 1 LOVD
+?/. - c.1074G>A r.(?) p.(Trp358*) - Parent #1 - likely pathogenic g.99012707G>A g.98396244G>A CNGA3 c.[1074G>A];[1074G>A] - CNGA3_000018 homozygous; protein change not reported PubMed: Sun 2020 - - Unknown yes - - - - DNA SEQ-NG blood Whole-exome or targeted sequencing retinal disease 16653 PubMed: Sun 2020 early childhood onset defined as younger than 8y F - China - - - - - 1 LOVD
+?/. - c.1074G>A r.(?) p.(Trp358*) - Parent #1 - likely pathogenic g.99012707G>A g.98396244G>A CNGA3 c.[1074G>A];[1982G>A] - CNGA3_000018 heterozygous; protein change not reported PubMed: Sun 2020 - - Unknown yes - - - - DNA SEQ-NG blood Whole-exome or targeted sequencing retinal disease 12291 PubMed: Sun 2020 - M - China - - - - - 1 LOVD
+?/. - c.1074G>A r.(?) p.(Trp358*) - Parent #1 - likely pathogenic g.99012707G>A g.98396244G>A CNGA3 c.[1074G>A];[1163G>T] - CNGA3_000018 heterozygous; protein change not reported PubMed: Sun 2020 - - Unknown yes - - - - DNA SEQ-NG blood Whole-exome or targeted sequencing retinal disease 18525 PubMed: Sun 2020 - F - China - - - - - 1 LOVD
+?/. - c.1074G>A r.(?) p.(Trp358*) - Parent #1 - likely pathogenic g.99012707G>A g.98396244G>A CNGA3 c.[1074G>A];[1627_1635del] - CNGA3_000018 heterozygous; protein change not reported PubMed: Sun 2020 - - Unknown yes - - - - DNA SEQ-NG blood Whole-exome or targeted sequencing retinal disease 19550 PubMed: Sun 2020 - M - China - - - - - 1 LOVD
+?/. - c.1074G>A r.(?) p.(Trp358Ter) - Maternal (confirmed) - likely pathogenic g.99012707G>A g.98396244G>A CNGA3 c.1074G>A, p.W358X - CNGA3_000018 - PubMed: Li 2015 - - Germline yes - - - - DNA SEQ-NG - tagreted next-generation sequencing retinal disease Family1?II:2 PubMed: Li 2015 - M no China - - - - - 1 LOVD
+?/. - c.1074G>A r.(?) p.(Trp358*) - Parent #1 ACMG likely pathogenic g.99012707G>A g.98396244G>A CNGA3 c.1074G>A - CNGA3_000018 heterozygous PubMed: Solaki 2022 - - Unknown ? - - - - DNA SEQ blood - retinal disease ? PubMed: Solaki 2022 number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1 - - - - - - - - 1 LOVD
Legend   How to query  


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