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.

31 entries on 1 page. Showing entries 1 - 31.
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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     
+?/. 7 c.1669G>A r.(?) p.(Gly557Arg) - Both (homozygous) - likely pathogenic g.99013302G>A g.98396839G>A - - CNGA3_000056 - Sharon, submitted - - Germline - - - - - DNA SEQ - - ACHM3 - Sharon, submitted - F no Israel Jewish-Ashkenazi - - - - 2 Dror Sharon
+?/. 7 c.1669G>A r.(?) p.(Gly557Arg) - Paternal (confirmed) - likely pathogenic g.99013302G>A g.98396839G>A - - CNGA3_000056 - Sharon, submitted - - Germline - - - - - DNA SEQ - - ACHM3 - Sharon, submitted - M no Israel Jewish - - - - 1 Dror Sharon
+?/. 7 c.1669G>A r.(?) p.(Gly557Arg) - Paternal (confirmed) - likely pathogenic g.99013302G>A g.98396839G>A - - CNGA3_000056 - Sharon, submitted - - Germline - - - - - DNA SEQ - - ACHM3 - Sharon, submitted - F no Israel Jewish - - - - 3 Dror Sharon
+/. - c.1669G>A r.(?) p.(Gly557Arg) - Unknown ACMG pathogenic g.99013302G>A - - - CNGA3_000056 - PubMed: Sharon 2019 - - Germline - 13/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 13 IRD families - - Israel - - - - - 13 Global Variome, with Curator vacancy
+/. - c.1669G>A r.(?) p.(Gly557Arg) - Both (homozygous) - pathogenic (recessive) g.99013302G>A g.98396839G>A - - CNGA3_000056 - PubMed: Matet 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat8 PubMed: Matet 2018 - F yes - Africa-North - - - - 1 LOVD
+?/. - c.1669G>A r.(?) p.(Gly557Arg) - Unknown ACMG likely pathogenic g.99013302G>A g.98396839G>A CNGA3:NM_001298 c.G1669A, p.G557R - CNGA3_000056 heterozygous, individual unsolved, causality of variants unknown PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-525 PubMed: Rodriguez-Munoz 2020 family fRPN-224, proband F - Spain - - - - - 1 LOVD
+?/. - c.1669G>A r.(?) p.(Gly557Arg) - Parent #1 - likely pathogenic g.99013302G>A g.98396839G>A CNGA3, variant 1: c.499del/p.L167Cfs*6, variant 2: c.1669G>A/p.G557R - CNGA3_000056 solved, compound heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET2 targeted sequencing panel - see paper retinal disease 1142 PubMed: Weisschuh 2020 Filing key number: 796, achromatopsia, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.1669G>A r.(?) p.(Gly557Arg) - Parent #1 - likely pathogenic g.99013302G>A g.98396839G>A CNGA3, variant 1: c.499del/p.L167Cfs*6, variant 2: c.1669G>A/p.G557R - CNGA3_000056 solved, compound heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ blood Sanger sequencing retinal disease 1143 PubMed: Weisschuh 2020 Filing key number: 796, achromatopsia, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.1669G>A r.(?) p.(Gly557Arg) - Parent #1 - likely pathogenic g.99013302G>A g.98396839G>A CNGA3, variant 1: c.847C>T/p.R283W, variant 2: c.1669G>A/p.G557R - CNGA3_000056 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET2 targeted sequencing panel - see paper retinal disease 1146 PubMed: Weisschuh 2020 Filing key number: 807, achromatopsia, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. 7 c.1669G>A r.(?) p.(Gly557Arg) - Parent #2 - likely pathogenic g.99013302G>A g.98396839G>A allele 1/2: R277C/G557R - CNGA3_000056 heterozygous PubMed: Wissinger 2001 - - Germline yes - - - - DNA SEQ, SSCA blood direct DNA sequencing or SSCP retinal disease CHRO254/A PubMed: Wissinger 2001 - M - United States - - - - - 1 LOVD
+?/. 7 c.1669G>A r.(?) p.(Gly557Arg) - Parent #2 - likely pathogenic g.99013302G>A g.98396839G>A allele 1/2: R283Q/G557R - CNGA3_000056 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
+?/. - c.1669G>A r.(?) p.(Gly557Arg) - Parent #1 - likely pathogenic g.99013302G>A g.98396839G>A allele 1/2: G557R/A222P - CNGA3_000056 heterozygous PubMed: Reuter 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO487 PubMed: Reuter 2008 - M - Germany - - - - - 1 LOVD
+?/. - c.1669G>A r.(?) p.(Gly557Arg) - Parent #1 - likely pathogenic g.99013302G>A g.98396839G>A allele 1/2: G557R/R223G - CNGA3_000056 heterozygous PubMed: Reuter 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease Ar-213-03 PubMed: Reuter 2008 - ? - Germany - - - - - 1 LOVD
+?/. - c.1669G>A r.(?) p.(Gly557Arg) - Parent #1 - likely pathogenic g.99013302G>A g.98396839G>A allele 1/2: G557R/V456fsX - CNGA3_000056 heterozygous PubMed: Reuter 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO460 PubMed: Reuter 2008 - M - Germany - - - - - 1 LOVD
+?/. - c.1669G>A r.(?) p.(Gly557Arg) - Both (homozygous) - likely pathogenic g.99013302G>A g.98396839G>A c.1669G>A I c.1669G>A - CNGA3_000056 homozygous PubMed: Zelinger 2015y - - Germline yes - - - - DNA SEQ blood - retinal disease MOL0934-1 PubMed: Zelinger 2015 - - no Israel Mixed Jewish - - - - 1 LOVD
+?/. - c.1669G>A r.(?) p.(Gly557Arg) - Parent #2 - likely pathogenic g.99013302G>A g.98396839G>A c.830G>A I c.1669G>A - CNGA3_000056 heterozygous PubMed: Zelinger 2015 - - Germline yes - - - - DNA SEQ blood - retinal disease MOL0502-1 PubMed: Zelinger 2015 - - no Israel Jewish (Iraq I Algeria , Tunis I Algeria - - - - 1 LOVD
+?/. - c.1669G>A r.(?) p.(Gly557Arg) - Parent #2 - likely pathogenic g.99013302G>A g.98396839G>A c.830G>A I c.1669G>A - CNGA3_000056 heterozygous PubMed: Zelinger 2015 - - Germline yes - - - - DNA SEQ blood - retinal disease MOL0502-2 PubMed: Zelinger 2015 - - no Israel Jewish (Iraq I Algeria , Tunis I Algeria) - - - - 1 LOVD
+?/. - c.1669G>A r.(?) p.(Gly557Arg) - Parent #2 - likely pathogenic g.99013302G>A g.98396839G>A c.848G>A I c.1669G>A - CNGA3_000056 heterozygous PubMed: Zelinger 2015 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRD2090 PubMed: Zelinger 2015 - - no United States Italian/British - - - - 1 LOVD
+?/. - c.1669G>A r.(?) p.(Gly557Arg) - Parent #2 - likely pathogenic g.99013302G>A g.98396839G>A c.829C>T I c.1669G>A - CNGA3_000056 heterozygous PubMed: Zelinger 2015 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRD2287 PubMed: Zelinger 2015 - - no United States ltaIian/Scotch/ Eastern European - - - - 1 LOVD
+?/. - c.1669G>A r.(?) p.(Gly557Arg) - Unknown - likely pathogenic g.99013302G>A g.98396839G>A CNGA3 c.1669G>A, (p.Gly557Arg) - CNGA3_000056 - PubMed: Matet 2018 - - Unknown ? - - - - DNA SEQ-NG - tagreted next-generation sequencing retinal disease 8 PubMed: Matet 2018 - F yes France Northern African - - - - 1 LOVD
+?/. - c.1669G>A r.(?) p.(Gly557Arg) - Unknown - likely pathogenic g.99013302G>A g.98396839G>A CNGA3 c.1669G>A, (p.Gly557Arg) - CNGA3_000056 - PubMed: Matet 2018 - - Unknown ? - - - - DNA SEQ-NG - tagreted next-generation sequencing retinal disease 8 PubMed: Matet 2018 - F yes France Northern African - - - - 1 LOVD
+?/. - c.1669G>A r.(?) p.(Gly557Arg) - Parent #2 - likely pathogenic g.99013302G>A g.98396839G>A CNGA3 nt1709 G>A (exon 7), Gly557Arg - CNGA3_000056 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.1669G>A r.(?) p.(Gly557Arg) - Parent #2 ACMG pathogenic g.99013302G>A g.98396839G>A CNGA3 c.1669G>A - CNGA3_000056 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: 1, one parent or other relatives: 0; no segregation analysis possible: 0 - - - - - - - - 1 LOVD
+/. - c.1669G>A r.(?) p.(Gly557Arg) - Both (homozygous) ACMG pathogenic g.99013302G>A g.98396839G>A CNGA3 c.1669G>A - CNGA3_000056 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.1669G>A r.(?) p.(Gly557Arg) - Parent #2 ACMG pathogenic g.99013302G>A g.98396839G>A CNGA3 c.1669G>A - CNGA3_000056 heterozygous PubMed: Solaki 2022 - - Germline yes - - - - 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.1669G>A r.(?) p.(Gly557Arg) - Parent #2 ACMG pathogenic g.99013302G>A g.98396839G>A CNGA3 c.1669G>A - CNGA3_000056 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.1669G>A r.(?) p.(Gly557Arg) - Parent #2 ACMG pathogenic g.99013302G>A g.98396839G>A CNGA3 c.1669G>A - CNGA3_000056 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.1669G>A r.(?) p.(Gly557Arg) - Parent #2 ACMG pathogenic g.99013302G>A g.98396839G>A CNGA3 c.1669G>A - CNGA3_000056 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.1669G>A r.(?) p.(Gly557Arg) - Parent #2 ACMG pathogenic g.99013302G>A g.98396839G>A CNGA3 c.1669G>A - CNGA3_000056 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.1669G>A r.(?) p.(Gly557Arg) - Unknown ACMG pathogenic g.99013302G>A g.98396839G>A - - CNGA3_000056 case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 075146 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
+/. - c.1669G>A r.(?) p.(Gly557Arg) - Unknown ACMG pathogenic (recessive) g.99013302G>A g.98396839G>A - - CNGA3_000056 ACMG PS4, PP3_strong, PM2_sup, PS3_sup PubMed: Andersen 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel ACHM Pat92 PubMed: Andersen 2023 patient - no Denmark - - - - - 1 Susanne Kohl
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