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.

44 entries on 1 page. Showing entries 1 - 44.
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.667C>T r.(?) p.(Arg223Trp) - Unknown - likely pathogenic g.99008427C>T g.98391964C>T - - CNGA3_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.667C>T r.(?) p.(Arg223Trp) - Parent #1 - pathogenic (recessive) g.99008427C>T - Arg223Trp/? - CNGA3_000031 - PubMed: Johnson 2004 - - Germline - - - - - DNA SEQ Blood - retinal disease - PubMed: Johnson 2004 2nd variant not found. Probably out of the screening scope. - - United Kingdom (Great Britain) - - - - - 1 Julia Lopez
+/. 7 c.667C>T r.(?) p.(Arg223Trp) - Parent #1 - pathogenic (recessive) g.99008427C>T - Arg223Trp/? - CNGA3_000031 - PubMed: Johnson 2004 - - Germline - - - - - DNA SEQ Blood - retinal disease - PubMed: Johnson 2004 2nd variant not found. Probably out of the screening scope. - - United Kingdom (Great Britain) - - - - - 1 Julia Lopez
+?/. 7 c.667C>T r.(?) p.(Arg223Trp) - Parent #1 - likely pathogenic g.99008427C>T - p.R223W - CNGA3_000031 - PubMed: Nishiguchi 2005 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Nishiguchi 2005 - - - - - - - - - 1 Julia Lopez
+?/. 7 c.667C>T r.(?) p.(Arg223Trp) - Parent #1 - likely pathogenic g.99008427C>T - p.R223W - CNGA3_000031 - PubMed: Nishiguchi 2005 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Nishiguchi 2005 - - - - - - - - - 1 Julia Lopez
+?/. 7 c.667C>T r.(?) p.(Arg223Trp) - Parent #1 - likely pathogenic g.99008427C>T - p.R223W - CNGA3_000031 - PubMed: Nishiguchi 2005 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Nishiguchi 2005 - - - - - - - - - 1 Julia Lopez
+?/. - c.667C>T r.(?) p.(Arg223Trp) - Parent #2 - likely pathogenic (recessive) g.99008427C>T g.98391964C>T - - CNGA3_000031 - PubMed: Taylor 2017 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 15011865 PubMed: Taylor 2017 no family history retinal disease F - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. - c.667C>T r.(?) p.(Arg223Trp) - Both (homozygous) - pathogenic (recessive) g.99008427C>T g.98391964C>T - - CNGA3_000031 - PubMed: Matet 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat3 PubMed: Matet 2018 - M yes - Africa-North - - - - 1 LOVD
+?/. - c.667C>T r.(?) p.(Arg223Trp) - Unknown - likely pathogenic g.99008427C>T g.98391964C>T - - CNGA3_000031 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 13001685 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
+?/. - c.667C>T r.(?) p.(Arg223Trp) - Both (homozygous) - likely pathogenic (recessive) g.99008427C>T g.98391964C>T - - CNGA3_000031 - PubMed: Li 2014, PubMed: Huang 2016 - - Germline - - - - - DNA SEQ - - retinal disease QT134 PubMed: Li 2014, PubMed: Huang 2016 see paper ... - - China - - - - - 1 Johan den Dunnen
+/. - c.667C>T r.(?) p.(Arg223Trp) - Parent #1 - pathogenic (recessive) g.99008427C>T - - - CNGA3_000031 - PubMed: Duncker 2015 - - Germline - - - - - DNA SEQ - - retinal disease Pat24 PubMed: Duncker 2015 - M - United States black - - - - 1 Johan den Dunnen
+/. - c.667C>T r.(?) p.(Arg223Trp) - Parent #2 - pathogenic (recessive) g.99008427C>T g.98391964C>T - - CNGA3_000031 - PubMed: Dubis 2015 - - Germline - - - - - DNA SEQ - - retinal disease MM_0015 PubMed: Dubis 2015 - F - - - - - - - 1 LOVD
+/. - c.667C>T r.(?) p.(Arg223Trp) - Parent #2 - pathogenic g.99008427C>T g.98391964C>T - - CNGA3_000031 - PubMed: Greenberg 2014 - - Germline - - - - - DNA SEQ - - retinal disease Fam4Pat16 PubMed: Greenberg 2014 family, 2 affected - - United States - - - - - 2 LOVD
+/. - c.667C>T r.(?) p.(Arg223Trp) - Parent #2 - pathogenic g.99008427C>T g.98391964C>T - - CNGA3_000031 - PubMed: Greenberg 2014 - - Germline - - - - - DNA SEQ - - retinal disease Fam4Pat17 PubMed: Greenberg 2014 sib - - United States - - - - - 1 LOVD
+/. 7 c.667C>T r.(?) p.(Arg223Trp) - Unknown - pathogenic g.99008427C>T - c.667C>T - CNGA3_000031 - PubMed: Sundaram_2014 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Sundaram_2014 - F - - - - - - - 1 Julia Lopez
+/. 7 c.667C>T r.(?) p.(Arg223Trp) - Unknown - pathogenic g.99008427C>T - c.667C>T - CNGA3_000031 - PubMed: Sundaram_2014 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Sundaram_2014 - M - - - - - - - 1 Julia Lopez
+/. 7 c.667C>T r.(?) p.(Arg223Trp) - Unknown - pathogenic g.99008427C>T - c.667C>T - CNGA3_000031 - PubMed: Sundaram_2014 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Sundaram_2014 - F - - - - - - - 1 Julia Lopez
+/. 7 c.667C>T r.(?) p.(Arg223Trp) - Unknown - pathogenic g.99008427C>T - c.667C>T - CNGA3_000031 - PubMed: Sundaram_2014 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Sundaram_2014 - M - - - - - - - 1 Julia Lopez
+/. - c.667C>T r.(?) p.(Arg223Trp) - Paternal (confirmed) - pathogenic g.99008427C>T g.98391964C>T CNGB3: c.[1148delC];[1208G>A], p.[R403Q];[T383Ifs*13], CNGA3: c.[667C>T];[=] - CNGA3_000031 - PubMed: Burkhard 2018 - - Germline yes - - - - DNA SEQ-NG, SEQ blood - retinal disease 13 PubMed: Burkhard 2018 - M no - - - - - - 1 LOVD
+?/. - c.667C>T r.(?) p.(Arg223Trp) - Unknown - likely pathogenic g.99008427C>T g.98391964C>T CNGA3 c.667C>T(;)1793T>G - CNGA3_000031 heterozygous; protein change not reported PubMed: Sun 2020 - - Unknown ? - - - - DNA SEQ-NG blood Whole-exome or targeted sequencing retinal disease 5692 PubMed: Sun 2020 - M - China - - - - - 1 LOVD
?/. 7 c.667C>T r.(?) p.(Arg223Trp) - Unknown - VUS g.99008427C>T - c.667C>T - CNGA3_000031 - PubMed: Brunetti-Pierri_2021 - - Unknown - - - - - DNA PCR, SEQ blood - retinal disease - PubMed: Brunetti-Pierri_2021 - - yes - Italian - - - - 1 LOVD
+?/. 6 c.667C>T r.(?) p.(Arg223Trp) - Parent #1 - likely pathogenic g.99008427C>T g.98391964C>T allele 1/2: R223W/S341P - CNGA3_000031 heterozygous PubMed: Wissinger 2001 - - Germline yes - - - - DNA SEQ, SSCA blood direct DNA sequencing or SSCP retinal disease CHRO119/M PubMed: Wissinger 2001 - M - Italy - - - - - 1 LOVD
+?/. 6 c.667C>T r.(?) p.(Arg223Trp) - Both (homozygous) - likely pathogenic g.99008427C>T g.98391964C>T allele 1/2: R223W/R223W - CNGA3_000031 homozygous PubMed: Wissinger 2001 - - Germline yes - - - - DNA SEQ, SSCA blood direct DNA sequencing or SSCP retinal disease CHRO92/S PubMed: Wissinger 2001 - M - Germany - - - - - 1 LOVD
+?/. - c.667C>T r.(?) p.(Arg223Trp) - Parent #1 - likely pathogenic g.99008427C>T g.98391964C>T CNGA3 allele 1/allele 2: R223W/R427C - CNGA3_000031 no cDNA annotation given, variant extrapolated from literature PubMed: Koeppen 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO419 PubMed: Koeppen 2008 - M - - - - - - - 1 LOVD
+?/. - c.667C>T r.(?) p.(Arg223Trp) - Parent #1 - likely pathogenic g.99008427C>T g.98391964C>T c.667C>T (p.Arg223Trp) /c.1279C>T (p.Arg427Cys) - CNGA3_000031 heterozygous PubMed: Fahim 2013 - - Unknown ? - - - - DNA SEQ blood - retinal disease A2 PubMed: Fahim 2013 - ? - - - - - - - 1 LOVD
+?/. - c.667C>T r.(?) p.(Arg223Trp) - Parent #1 - likely pathogenic g.99008427C>T g.98391964C>T c.667C>T (p.Arg223Trp) /c.1641C>A (p.Phe547Leu) - CNGA3_000031 heterozygous PubMed: Fahim 2013 - - Unknown ? - - - - DNA SEQ blood - retinal disease A3 PubMed: Fahim 2013 - ? - - - - - - - 1 LOVD
+?/. - c.667C>T r.(?) p.(Arg223Trp) - Parent #1 - likely pathogenic g.99008427C>T g.98391964C>T c.667C>T (p.Arg223Trp) /c.1641C>A (p.Phe547Leu) - CNGA3_000031 heterozygous PubMed: Fahim 2013 - - Unknown ? - - - - DNA SEQ blood - retinal disease A4 PubMed: Fahim 2013 - ? - - - - - - - 1 LOVD
+?/. - c.667C>T r.(?) p.(Arg223Trp) - Parent #2 - likely pathogenic g.99008427C>T g.98391964C>T c.1279C>T (p.Arg427Cys) c.667C>T (p.Arg223Trp) - CNGA3_000031 heterozygous PubMed: Fahim 2013 - - Unknown ? - - - - DNA SEQ blood - retinal disease A1 PubMed: Fahim 2013 - ? - - - - - - - 1 LOVD
+?/. - c.667C>T r.(?) p.(Arg223Trp) - Unknown - likely pathogenic g.99008427C>T g.98391964C>T CNGA3 c.667C>T, (p.Arg223Trp) - CNGA3_000031 - PubMed: Matet 2018 - - Unknown ? - - - - DNA SEQ-NG - tagreted next-generation sequencing retinal disease 3 PubMed: Matet 2018 - M yes France Northern African - - - - 1 LOVD
+?/. - c.667C>T r.(?) p.(Arg223Trp) - Unknown - likely pathogenic g.99008427C>T g.98391964C>T CNGA3 c.667C>T, (p.Arg223Trp) - CNGA3_000031 - PubMed: Matet 2018 - - Unknown ? - - - - DNA SEQ-NG - tagreted next-generation sequencing retinal disease 3 PubMed: Matet 2018 - M yes France Northern African - - - - 1 LOVD
+/. - c.667C>T r.(?) p.(Arg223Trp) - Parent #2 ACMG pathogenic g.99008427C>T g.98391964C>T CNGA3 c.667C>T - CNGA3_000031 heterozygous PubMed: Solaki 2022 - - Unknown ? - - - - DNA SEQ blood - retinal disease ? PubMed: Solaki 2022 number of independent families: 2 ; number of affected individuals: 3; segregation analysis: both parents: 2, one parent or other relatives: 1; no segregation analysis possible: 0 - - - - - - - - 1 LOVD
+/. - c.667C>T r.(?) p.(Arg223Trp) - Parent #2 ACMG pathogenic g.99008427C>T g.98391964C>T CNGA3 c.667C>T - CNGA3_000031 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.667C>T r.(?) p.(Arg223Trp) - Both (homozygous) ACMG pathogenic g.99008427C>T g.98391964C>T CNGA3 c.667C>T - CNGA3_000031 homozygous PubMed: Solaki 2022 - - Unknown ? - - - - DNA SEQ blood - retinal disease ? PubMed: Solaki 2022 number of independent families: 3 ; number of affected individuals: 4; segregation analysis: both parents: 1, one parent or other relatives: 2; no segregation analysis possible: 1 - - - - - - - - 1 LOVD
+/. - c.667C>T r.(?) p.(Arg223Trp) - Parent #1 ACMG pathogenic g.99008427C>T g.98391964C>T CNGA3 c.667C>T - CNGA3_000031 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: 0, one parent or other relatives: 2; no segregation analysis possible: 0 - - - - - - - - 1 LOVD
+/. - c.667C>T r.(?) p.(Arg223Trp) - Parent #1 ACMG pathogenic g.99008427C>T g.98391964C>T CNGA3 c.667C>T - CNGA3_000031 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.667C>T r.(?) p.(Arg223Trp) - Parent #1 ACMG pathogenic g.99008427C>T g.98391964C>T CNGA3 c.667C>T - CNGA3_000031 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.667C>T r.(?) p.(Arg223Trp) - Parent #1 ACMG pathogenic g.99008427C>T g.98391964C>T CNGA3 c.667C>T - CNGA3_000031 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.667C>T r.(?) p.(Arg223Trp) - Parent #1 ACMG pathogenic g.99008427C>T g.98391964C>T CNGA3 c.667C>T - CNGA3_000031 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.667C>T r.(?) p.(Arg223Trp) - Parent #1 ACMG pathogenic g.99008427C>T g.98391964C>T CNGA3 c.667C>T - CNGA3_000031 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.667C>T r.(?) p.(Arg223Trp) - Parent #2 ACMG pathogenic g.99008427C>T g.98391964C>T CNGA3 c.667C>T - CNGA3_000031 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.667C>T r.(?) p.(Arg223Trp) - Unknown ACMG pathogenic g.99008427C>T g.98391964C>T CNGA3 c.667C>T, p.(Arg223Trp) - CNGA3_000031 homozygous, probably causal PubMed: Zhu 2022 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ saliva panel-based next generation sequencing retinal disease 4_5 PubMed: Zhu 2022 family 4, individual 5 M - - - - - - - 1 LOVD
+/. - c.667C>T r.(?) p.(Arg223Trp) - Unknown ACMG pathogenic g.99008427C>T g.98391964C>T CNGA3 c.667C>T, p.(Arg223Trp) - CNGA3_000031 homozygous, probably causal PubMed: Zhu 2022 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ saliva panel-based next generation sequencing retinal disease 4_5 PubMed: Zhu 2022 family 4, individual 5 M - - - - - - - 1 LOVD
+/. 7 c.667C>T r.(?) p.(Arg223Trp) - Parent #1 ACMG pathogenic g.99008427C>T g.98391964C>T - - CNGA3_000031 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 072869 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
+/. - c.667C>T r.(?) p.(Arg223Trp) - Unknown ACMG pathogenic g.99008427C>T g.98391964C>T - - CNGA3_000031 no variant 2nd chromosome, case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 071325 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
Legend   How to query  


Screenscraping/webscraping (interacting with LOVD using scripts to download data) is strictly prohibited.
Use our APIs to retrieve data.