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.

23 entries on 1 page. Showing entries 1 - 23.
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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     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. - c.1706G>A r.(?) p.(Arg569His) - Unknown - likely pathogenic g.99013339G>A g.98396876G>A - - CNGA3_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1706G>A r.(?) p.(Arg569His) - Parent #1 - likely pathogenic g.99013339G>A g.98396876G>A - - CNGA3_000074 - 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
+/. 8 c.1706G>A r.(?) p.(Arg569His) - Parent #2 - pathogenic (recessive) g.99013339G>A - 1443insC/Arg569His - CNGA3_000074 - PubMed: Johnson 2004 - - Germline - - - - - DNA SEQ Blood - retinal disease - PubMed: Johnson 2004 - - - United Kingdom (Great Britain) - - - - - 1 Julia Lopez
+/. - c.1706G>A r.(?) p.(Arg569His) - Parent #2 - pathogenic (recessive) g.99013339G>A g.98396876G>A - - CNGA3_000074 - PubMed: Dubis 2015 - - Germline - - - - - DNA SEQ - - retinal disease MM_0002 PubMed: Dubis 2015 - F - - - - - - - 1 LOVD
+?/. - c.1706G>A r.(?) p.(Arg569His) - Unknown - likely pathogenic g.99013339G>A g.98396876G>A NM_001298, c.1706G>A, p.Arg569His - CNGA3_000074 - PubMed: Ezquerra-Inchausti 2018 - - Germline ? - - - - DNA SEQ-NG blood - retinal disease ? PubMed: Ezquerra-Inchausti 2018 Family RP188 ? ? Spain - - - - - 1 LOVD
+/. 8 c.1706G>A r.(?) p.(Arg569His) - Unknown - pathogenic g.99013339G>A - c.1706G>A - CNGA3_000074 - PubMed: Sundaram_2014 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Sundaram_2014 - F - - - - - - - 1 Julia Lopez
+?/. - c.1706G>A r.(?) p.(Arg569His) - Parent #1 - likely pathogenic g.99013339G>A g.98396876G>A CNGA3, variant 1: c.704A>T/p.D235V, variant 2: c.1706G>A/p.R569H - CNGA3_000074 possibly solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET5 targeted sequencing panel - see paper retinal disease 1227 PubMed: Weisschuh 2020 Filing key number: 968, achromatopsia, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.1706G>A r.(?) p.(Arg569His) - Parent #2 - likely pathogenic g.99013339G>A g.98396876G>A CNGA3 c.[952G>A]; [1706G>A] - CNGA3_000074 heterozygous; protein change not reported PubMed: Sun 2020 - - Unknown yes - - - - DNA SEQ-NG blood Whole-exome or targeted sequencing retinal disease 5384 PubMed: Sun 2020 early childhood onset defined as younger than 8y M - China - - - - - 1 LOVD
+?/. 7 c.1706G>A r.(?) p.(Arg569His) - Parent #2 - likely pathogenic g.99013339G>A g.98396876G>A allele 1/2: G513E/R569H - CNGA3_000074 heterozygous PubMed: Wissinger 2001 - - Germline yes - - - - DNA SEQ, SSCA blood direct DNA sequencing or SSCP retinal disease CHRO258/S PubMed: Wissinger 2001 - F - Italy - - - - - 1 LOVD
+?/. - c.1706G>A r.(?) p.(Arg569His) - Parent #2 - likely pathogenic g.99013339G>A g.98396876G>A allele 1/2: R283Q/R569H - CNGA3_000074 heterozygous PubMed: Reuter 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO458 PubMed: Reuter 2008 - M - Germany - - - - - 1 LOVD
+?/. - c.1706G>A r.(?) p.(Arg569His) - Parent #2 - likely pathogenic g.99013339G>A g.98396876G>A allele 1: c.1279C>T, p.R427C, allele 2: c.1706G>A, p.R569H - CNGA3_000074 heterozygous PubMed: Thomas 2012 - - Unknown ? - - - - DNA SEQ blood - retinal disease 6 PubMed: Thomas 2012 - ? yes - - - - - - 1 LOVD
+?/. - c.1706G>A r.(?) p.(Arg569His) - Parent #2 - likely pathogenic g.99013339G>A g.98396876G>A allele 1: c.1279C>T, p.R427C, allele 2: c.1706G>A, p.R569H - CNGA3_000074 heterozygous PubMed: Thomas 2012 - - Unknown ? - - - - DNA SEQ blood - retinal disease 7 PubMed: Thomas 2012 - ? yes - - - - - - 1 LOVD
+?/. - c.1706G>A r.(?) p.(Arg569His) - Paternal (confirmed) - likely pathogenic g.99013339G>A g.98396876G>A CNGA3 c.1706G>A, p.R569H - CNGA3_000074 - 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.1706G>A r.(?) p.(Arg569His) - Parent #2 ACMG pathogenic g.99013339G>A g.98396876G>A CNGA3 c.1706G>A - CNGA3_000074 heterozygous PubMed: Solaki 2022 - - Unknown ? - - - - DNA SEQ blood - retinal disease ? PubMed: Solaki 2022 number of independent families: 1 ; number of affected individuals: 2; segregation analysis: both parents: 2, one parent or other relatives: 0; no segregation analysis possible: 0 - - - - - - - - 1 LOVD
+/. - c.1706G>A r.(?) p.(Arg569His) - Parent #2 ACMG pathogenic g.99013339G>A g.98396876G>A CNGA3 c.1706G>A - CNGA3_000074 heterozygous 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.1706G>A r.(?) p.(Arg569His) - Parent #2 ACMG pathogenic g.99013339G>A g.98396876G>A CNGA3 c.1706G>A - CNGA3_000074 heterozygous 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.1706G>A r.(?) p.(Arg569His) - Parent #2 ACMG pathogenic g.99013339G>A g.98396876G>A CNGA3 c.1706G>A - CNGA3_000074 heterozygous 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.1706G>A r.(?) p.(Arg569His) - Parent #2 ACMG pathogenic g.99013339G>A g.98396876G>A CNGA3 c.1706G>A - CNGA3_000074 heterozygous 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.1706G>A r.(?) p.(Arg569His) - Parent #2 ACMG pathogenic g.99013339G>A g.98396876G>A CNGA3 c.1706G>A - CNGA3_000074 heterozygous 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: 0, one parent or other relatives: 1; no segregation analysis possible: 0 - - - - - - - - 1 LOVD
+/. - c.1706G>A r.(?) p.(Arg569His) - Parent #2 ACMG pathogenic g.99013339G>A g.98396876G>A CNGA3 c.1706G>A - CNGA3_000074 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.1706G>A r.(?) p.(Arg569His) - Parent #2 ACMG pathogenic g.99013339G>A g.98396876G>A CNGA3 c.1706G>A - CNGA3_000074 heterozygous 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: 0, one parent or other relatives: 1; no segregation analysis possible: 0 - - - - - - - - 1 LOVD
+/. - c.1706G>A r.(?) p.(Arg569His) - Parent #2 ACMG pathogenic g.99013339G>A g.98396876G>A CNGA3 c.1706G>A - CNGA3_000074 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.1706G>A r.(?) p.(Arg569His) - Parent #2 ACMG pathogenic g.99013339G>A g.98396876G>A CNGA3 c.1706G>A - CNGA3_000074 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
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