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.

18 entries on 1 page. Showing entries 1 - 18.
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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.1688G>A r.(?) p.(Arg563His) - Unknown - pathogenic g.99013321G>A g.98396858G>A CNGA3(NM_001298.3):c.1688G>A (p.R563H, p.(Arg563His)) - CNGA3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1688G>A r.(?) p.(Arg563His) - Unknown - pathogenic g.99013321G>A g.98396858G>A CNGA3(NM_001298.3):c.1688G>A (p.R563H, p.(Arg563His)) - CNGA3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1688G>A r.(?) p.(Arg563His) - Unknown - pathogenic (recessive) g.99013321G>A - 2:99013321G>A ENST00000393504.1:c.1688G>A (Arg563His) - CNGA3_000022 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G006297 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+?/. - c.1688G>A r.(?) p.(Arg563His) - Unknown - likely pathogenic g.99013321G>A g.98396858G>A - - CNGA3_000022 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 11011667 PubMed: Ellingford 2016 familial segregation analysis requested - - - - - - - - 1 LOVD
+?/. - c.1688G>A r.(?) p.(Arg563His) - Parent #1 - likely pathogenic g.99013321G>A g.98396858G>A CNGA3, variant 1: c.1688G>A/p.R563H, variant 2: c.1688G>A/p.R563H - CNGA3_000022 solved, homozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET1 targeted sequencing panel - see paper retinal disease 1128 PubMed: Weisschuh 2020 Filing key number: 772, achromatopsia, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.1688G>A r.(?) p.(Arg563His) - Unknown - likely pathogenic g.99013321G>A g.98396858G>A CNGA3 c.1688G>A, p.Arg563His - CNGA3_000022 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G006297 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. 7 c.1688G>A r.(?) p.(Arg563His) - Parent #1 - likely pathogenic g.99013321G>A g.98396858G>A allele 1/2: R563H/F547L - CNGA3_000022 heterozygous PubMed: Wissinger 2001 - - Germline yes - - - - DNA SEQ, SSCA blood direct DNA sequencing or SSCP retinal disease ZD53/Ah PubMed: Wissinger 2001 - F - Turkey - - - - - 1 LOVD
+/. 7 c.1688G>A r.(?) p.(Arg563His) - Parent #2 - pathogenic (recessive) g.99013321G>A g.98396858G>A R283W/R563H - CNGA3_000022 ACMG PS4, PM3_strong, PP3_strong, PM2_sup PubMed: Wissinger 2001, PubMed: Andersen 2023 - - Germline yes - - - - DNA SEQ, SSCA blood direct DNA sequencing or SSCP retinal disease CHRO74/B;Fam203Pat46 PubMed: Wissinger 2001, PubMed: Andersen 2023 family, 4 affected M - Denmark - - - - - 4 LOVD
+?/. 7 c.1688G>A r.(?) p.(Arg563His) - Parent #2 - likely pathogenic g.99013321G>A g.98396858G>A allele 1/2: R436W/R563H - CNGA3_000022 heterozygous PubMed: Wissinger 2001 - - Unknown ? - - - - DNA SEQ, SSCA blood direct DNA sequencing or SSCP retinal disease CHRO223/J PubMed: Wissinger 2001 - M - Germany - - - - - 1 LOVD
+?/. - c.1688G>A r.(?) p.(Arg563His) - Parent #1 - likely pathogenic g.99013321G>A g.98396858G>A CNGA3 R563H - CNGA3_000022 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Kellner 2004 - - Germline yes - - - - DNA ? - - retinal disease F137_1025 PubMed: Kellner 2004 - F - - - - - - - 1 LOVD
+?/. - c.1688G>A r.(?) p.(Arg563His) - Parent #1 - likely pathogenic g.99013321G>A g.98396858G>A CNGA3 R563H - CNGA3_000022 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Kellner 2004 - - Germline yes - - - - DNA ? - - retinal disease F137_683 PubMed: Kellner 2004 - M - - - - - - - 1 LOVD
+?/. - c.1688G>A r.(?) p.(Arg563His) - Parent #1 - likely pathogenic g.99013321G>A g.98396858G>A CNGA3 R563H - CNGA3_000022 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Kellner 2004 - - Germline yes - - - - DNA ? - - retinal disease F137_682 PubMed: Kellner 2004 - F - - - - - - - 1 LOVD
+/. - c.1688G>A r.(?) p.(Arg563His) - Parent #2 ACMG pathogenic g.99013321G>A g.98396858G>A CNGA3 c.1688G>A - CNGA3_000022 heterozygous PubMed: Solaki 2022 - - Unknown ? - - - - DNA SEQ blood - retinal disease ? PubMed: Solaki 2022 number of independent families: 2 ; number of affected individuals: 2; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 1 - - - - - - - - 1 LOVD
+/. - c.1688G>A r.(?) p.(Arg563His) - Parent #2 ACMG pathogenic g.99013321G>A g.98396858G>A CNGA3 c.1688G>A - CNGA3_000022 heterozygous PubMed: Solaki 2022 - - Germline yes - - - - DNA SEQ blood - retinal disease ? PubMed: Solaki 2022 number of independent families: 1 ; number of affected individuals: 3; segregation analysis: both parents: 0, one parent or other relatives: 3; no segregation analysis possible: 0 - - - - - - - - 1 LOVD
+/. - c.1688G>A r.(?) p.(Arg563His) - Both (homozygous) ACMG pathogenic g.99013321G>A g.98396858G>A CNGA3 c.1688G>A - CNGA3_000022 homozygous PubMed: Solaki 2022 - - Germline yes - - - - DNA SEQ blood - retinal disease ? PubMed: Solaki 2022 number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0 - - - - - - - - 1 LOVD
+/. - c.1688G>A r.(?) p.(Arg563His) - Parent #2 ACMG pathogenic g.99013321G>A g.98396858G>A CNGA3 c.1688G>A - CNGA3_000022 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
?/. - c.1688G>A r.(?) p.(Arg563His) - Unknown - VUS g.99013321G>A - CNGA3(NM_001298.3):c.1688G>A (p.R563H, p.(Arg563His)) - CNGA3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1688G>A r.(?) p.(Arg563His) - Parent #2 ACMG pathogenic (recessive) g.99013321G>A g.98396858G>A - - CNGA3_000022 ACMG PS4, PM3_very strong, PP3_strong, PM2_sup PubMed: Andersen 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel ACHM Fam203Pat62 PubMed: Andersen 2023 sib - no Denmark - - - - - 1 Susanne Kohl
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