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.

39 entries on 1 page. Showing entries 1 - 39.
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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.848G>A r.(?) p.(Arg283Gln) - Unknown - pathogenic g.99012481G>A g.98396018G>A - - CNGA3_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 7 c.848G>A r.(?) p.(Arg283Gln) - Paternal (confirmed) - likely pathogenic g.99012481G>A g.98396018G>A - - CNGA3_000035 - Sharon, submitted - - Germline - - - - - DNA SEQ - - ACHM3 - Sharon, submitted - M no Israel Arab-Muslim - - - - 2 Dror Sharon
+/. - c.848G>A r.(?) p.(Arg283Gln) - Parent #2 ACMG pathogenic (recessive) g.99012481G>A - - - CNGA3_000035 - PubMed: Kim 2019 - - Germline - 1/86 cases - - - DNA SEQ, SEQ-NG - 204 gene panel retinal disease - PubMed: Kim 2019 - - - Korea - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.848G>A r.(?) p.(Arg283Gln) - Unknown ACMG likely pathogenic g.99012481G>A - - - CNGA3_000035 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.848G>A r.(?) p.(Arg283Gln) - Both (homozygous) - likely pathogenic g.99012481G>A g.98396018G>A - - CNGA3_000035 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 13003908 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
+/. - c.848G>A r.(?) p.(Arg283Gln) - Parent #1 - pathogenic (recessive) g.99012481G>A g.98396018G>A - - CNGA3_000035 - PubMed: Dubis 2015 - - Germline - - - - - DNA SEQ - - retinal disease MM_0015 PubMed: Dubis 2015 - F - - - - - - - 1 LOVD
+/. 8 c.848G>A r.(?) p.(Arg283Gln) - Paternal (confirmed) ACMG pathogenic g.99012481G>A g.98396018G>A - - CNGA3_000035 - 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 274 Tracewska 2021, MolVis in press proband F no Poland Slavic - - yes - 2 LOVD
+/. 8 c.848G>A r.(?) p.(Arg283Gln) - Paternal (confirmed) ACMG pathogenic g.99012481G>A g.98396018G>A - - CNGA3_000035 - Tracewska 2021, MolVis in press - - Germline yes 0 (in-house database, ~5000 samples) - - - DNA SEQ buccal cells targeted resequencing using MIPs library prep, 108-gene panel retinal disease 275 Tracewska 2021, MolVis in press brother M no Poland Slavic - - yes - 1 LOVD
+/. 8 c.848G>A r.(?) p.(Arg283Gln) - Unknown - pathogenic g.99012481G>A - c.848G>A - CNGA3_000035 - PubMed: Sundaram_2014 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Sundaram_2014 - F - - - - - - - 1 Julia Lopez
+/. 8 c.848G>A r.(?) p.(Arg283Gln) - Unknown - pathogenic g.99012481G>A - c.848G>A - CNGA3_000035 - PubMed: Sundaram_2014 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Sundaram_2014 - M - - - - - - - 1 Julia Lopez
+/. 8 c.848G>A r.(?) p.(Arg283Gln) - Unknown - pathogenic g.99012481G>A - c.848G>A - CNGA3_000035 - PubMed: Sundaram_2014 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Sundaram_2014 - F - - - - - - - 1 Julia Lopez
+/. 8 c.848G>A r.(?) p.(Arg283Gln) - Unknown - pathogenic g.99012481G>A - c.848G>A - CNGA3_000035 - PubMed: Sundaram_2014 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Sundaram_2014 - F - - - - - - - 1 Julia Lopez
+/. 8 c.848G>A r.(?) p.(Arg283Gln) - Unknown - pathogenic g.99012481G>A - c.848G>A - CNGA3_000035 - PubMed: Sundaram_2014 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Sundaram_2014 - M - - - - - - - 1 Julia Lopez
+/. 8 c.848G>A r.(?) p.(Arg283Gln) - Unknown - pathogenic g.99012481G>A - c.848G>A - CNGA3_000035 - PubMed: Sundaram_2014 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Sundaram_2014 - M - - - - - - - 1 Julia Lopez
+/. - c.848G>A r.(?) p.(Arg283Gln) - Unknown ACMG pathogenic g.99012481G>A g.98396018G>A CNGA3 c.848G>A, p.R283Q - CNGA3_000035 - PubMed: Kim 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 204 genes associated with inherited retinal disorders, see paper retinal disease ? PubMed: Kim 2019 - ? - Korea, South (Republic) - - - - - 1 LOVD
+?/. - c.848G>A r.(?) p.(Arg283Gln) - Parent #1 - likely pathogenic g.99012481G>A g.98396018G>A CNGA3, variant 1: c.848G>A/p.R283Q, variant 2: c.848G>A/p.R283Q - CNGA3_000035 solved, homozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET4 targeted sequencing panel - see paper retinal disease 1199 PubMed: Weisschuh 2020 Filing key number: 902, achromatopsia, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. 7 c.848G>A r.(?) p.(Arg283Gln) - Parent #1 - likely pathogenic g.99012481G>A g.98396018G>A allele 1/2: R283Q/G557R - CNGA3_000035 heterozygous PubMed: Wissinger 2001 - - Germline yes - - - - DNA SEQ, SSCA blood direct DNA sequencing or SSCP retinal disease CHRO6/S PubMed: Wissinger 2001 - F - United States - - - - - 1 LOVD
+?/. 7 c.848G>A r.(?) p.(Arg283Gln) - Unknown - likely pathogenic g.99012481G>A g.98396018G>A allele 1/2: R283Q/? - CNGA3_000035 single heterozygous variant in a recessive PubMed: Wissinger 2001 - - Unknown ? - - - - DNA SEQ, SSCA blood direct DNA sequencing or SSCP retinal disease CHRO155/M PubMed: Wissinger 2001 - M - Netherlands - - - - - 1 LOVD
+?/. - c.848G>A r.(?) p.(Arg283Gln) - Parent #1 - likely pathogenic g.99012481G>A g.98396018G>A allele 1/2: R283Q/R277H - CNGA3_000035 heterozygous PubMed: Reuter 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease ZD236 PubMed: Reuter 2008 - F - Germany - - - - - 1 LOVD
+?/. - c.848G>A r.(?) p.(Arg283Gln) - Parent #1 - likely pathogenic g.99012481G>A g.98396018G>A allele 1/2: R283Q/L433W - CNGA3_000035 heterozygous PubMed: Reuter 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO280 PubMed: Reuter 2008 - F - Germany - - - - - 1 LOVD
+?/. - c.848G>A r.(?) p.(Arg283Gln) - Parent #1 - likely pathogenic g.99012481G>A g.98396018G>A allele 1/2: R283Q/R436W - CNGA3_000035 heterozygous PubMed: Reuter 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO411 PubMed: Reuter 2008 - M - Germany - - - - - 1 LOVD
+?/. - c.848G>A r.(?) p.(Arg283Gln) - Parent #1 - likely pathogenic g.99012481G>A g.98396018G>A allele 1/2: R283Q/R569H - CNGA3_000035 heterozygous PubMed: Reuter 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO458 PubMed: Reuter 2008 - M - Germany - - - - - 1 LOVD
+?/. 7 c.848G>A r.(?) p.(Arg283Gln) - Parent #1 - likely pathogenic g.99012481G>A g.98396018G>A allele 1: c.848G>A - p.Arg283Gln, allele 2: c.1306C>T - p.Arg436Trp - CNGA3_000035 heterozygous PubMed: Genead 2011 - - Unknown ? - - - - DNA SEQ blood - retinal disease 11 PubMed: Genead 2011 - F - United States African American - - - - 1 LOVD
+?/. - c.848G>A r.(?) p.(Arg283Gln) - Parent #1 - likely pathogenic g.99012481G>A g.98396018G>A c.848G>A I c.1669G>A - CNGA3_000035 heterozygous PubMed: Zelinger 2015y - - Germline yes - - - - DNA SEQ blood - retinal disease CHRD2090 PubMed: Zelinger 2015 - - no United States Italian/British - - - - 1 LOVD
+?/. p.(Arg283Gln) c.848G>A r.(?) p.(Arg283Gln) - Parent #1 - likely pathogenic g.99012481G>A g.98396018G>A CNGA3 848G>A, Arg283Gln - CNGA3_000035 heterozygous PubMed: Georgiou 2019 - - Unknown ? - - - - DNA ? - retrospective research retinal disease JC_0698 PubMed: Georgiou 2019 - M - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.848G>A r.(?) p.(Arg283Gln) - Parent #1 - likely pathogenic g.99012481G>A g.98396018G>A CNGA3 nt888 G>A (exon 7), Arg283Gln - CNGA3_000035 old nucleotide numbering system, c. annotations extrapolated from literature and databases PubMed: Kohl 1998 - - Germline yes - - - - DNA SEQ - - retinal disease ACHR6 PubMed: Kohl 1998 - - - Germany - - - - - 1 LOVD
+/. - c.848G>A r.(?) p.(Arg283Gln) - Parent #2 ACMG pathogenic g.99012481G>A g.98396018G>A CNGA3 c.848G>A - CNGA3_000035 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: 1; no segregation analysis possible: 0 - - - - - - - - 1 LOVD
+/. - c.848G>A r.(?) p.(Arg283Gln) - Parent #2 ACMG pathogenic g.99012481G>A g.98396018G>A CNGA3 c.848G>A - CNGA3_000035 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.848G>A r.(?) p.(Arg283Gln) - Both (homozygous) ACMG pathogenic g.99012481G>A g.98396018G>A CNGA3 c.848G>A - CNGA3_000035 homozygous PubMed: Solaki 2022 - - Germline yes - - - - DNA SEQ blood - retinal disease ? PubMed: Solaki 2022 number of independent families: 3 ; number of affected individuals: 5; segregation analysis: both parents: 3, one parent or other relatives: 2; no segregation analysis possible: 0 - - - - - - - - 1 LOVD
+/. - c.848G>A r.(?) p.(Arg283Gln) - Parent #1 ACMG pathogenic g.99012481G>A g.98396018G>A CNGA3 c.848G>A - CNGA3_000035 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.848G>A r.(?) p.(Arg283Gln) - Parent #1 ACMG pathogenic g.99012481G>A g.98396018G>A CNGA3 c.848G>A - CNGA3_000035 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.848G>A r.(?) p.(Arg283Gln) - Parent #1 ACMG pathogenic g.99012481G>A g.98396018G>A CNGA3 c.848G>A - CNGA3_000035 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.848G>A r.(?) p.(Arg283Gln) - Parent #1 ACMG pathogenic g.99012481G>A g.98396018G>A CNGA3 c.848G>A - CNGA3_000035 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.848G>A r.(?) p.(Arg283Gln) - Parent #1 ACMG pathogenic g.99012481G>A g.98396018G>A CNGA3 c.848G>A - CNGA3_000035 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.848G>A r.(?) p.(Arg283Gln) - Parent #1 ACMG pathogenic g.99012481G>A g.98396018G>A CNGA3 c.848G>A - CNGA3_000035 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.848G>A r.(?) p.(Arg283Gln) - Parent #1 ACMG pathogenic g.99012481G>A g.98396018G>A CNGA3 c.848G>A - CNGA3_000035 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.848G>A r.(?) p.(Arg283Gln) - Parent #1 ACMG pathogenic g.99012481G>A g.98396018G>A CNGA3 c.848G>A - CNGA3_000035 single heterozygous, second allele unknown 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.848G>A r.(?) p.(Arg283Gln) - Unknown ACMG pathogenic (recessive) g.99012481G>A g.98396018G>A - - CNGA3_000035 ACMG PS1_MODERATE, PP3, PM2, PM5, PM1, PP2, PP5_STRONG PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? ACHM-1300 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
+/. 8 c.848G>A r.(?) p.(Arg283Gln) - Both (homozygous) ACMG pathogenic g.99012481G>A g.98396018G>A - - CNGA3_000035 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 074612 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
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