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.

20 entries on 1 page. Showing entries 1 - 20.
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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.1495C>T r.(?) p.(Arg499Ter) - Unknown - pathogenic g.99013128C>T g.98396665C>T - - CNGA3_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1495C>T r.(?) p.(Arg499*) - Parent #2 - pathogenic (recessive) g.99013128C>T g.98396665C>T - - CNGA3_000041 - PubMed: Matet 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat4 PubMed: Matet 2018 - M yes - white - - - - 1 LOVD
+?/. - c.1495C>T r.(?) p.(Arg499Ter) - Parent #1 - likely pathogenic (recessive) g.99013128C>T g.98396665C>T - - CNGA3_000041 - PubMed: Li 2014, PubMed: Huang 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease QT694 PubMed: Li 2014, PubMed: Huang 2016 see paper ... - - China - - - - - 1 Johan den Dunnen
+?/. - c.1495C>T r.(?) p.(Arg499Ter) - Parent #2 - likely pathogenic (recessive) g.99013128C>T g.98396665C>T - - CNGA3_000041 - PubMed: Li 2014, PubMed: Huang 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease QT876 PubMed: Li 2014, PubMed: Huang 2016 see paper ... - - China - - - - - 1 Johan den Dunnen
+?/. - c.1495C>T r.(?) p.(Arg499Ter) - Parent #2 - likely pathogenic (recessive) g.99013128C>T g.98396665C>T - - CNGA3_000041 - PubMed: Li 2014, PubMed: Huang 2016 - - Germline - - - - - DNA SEQ - - retinal disease QT1057 PubMed: Li 2014, PubMed: Huang 2016 see paper ... - - China - - - - - 1 Johan den Dunnen
+?/. - c.1495C>T r.(?) p.(Arg499*) - Unknown - likely pathogenic g.99013128C>T g.98396665C>T Allele 1 c.1495C>T (p.Arg499*), Allele 2 c.967G>C (p.Ala323Pro) - CNGA3_000041 heterozygous PubMed: Khan 2019 - - Germline/De novo (untested) ? - - - - DNA ? - retrospective study retinal disease - PubMed: Khan 2019 - M - - - - - - - 1 LOVD
+?/. - c.1495C>T r.(?) p.(Arg499*) - Unknown - likely pathogenic g.99013128C>T g.98396665C>T c.1495C>T, p.(Arg481*) - CNGA3_000041 different transcript anderror in annotation: NM_001079878.1(CNGA3)c.1441C>T causes p.(Arg481*), compound heterozygous PubMed: Wang 2019 - - Germline yes - - - - DNA SEQ-NG blood panel of 126 genes retinal disease 16211 PubMed: Wang 2019 - M - China - - - - - 1 LOVD
+?/. - c.1495C>T r.(?) p.(Arg499*) - Parent #2 - likely pathogenic g.99013128C>T g.98396665C>T CNGA3 c.1495C>T, p.Arg499stop - CNGA3_000041 heterozygous PubMed: Burgueno-Montanes 2012 - - Unknown ? - - - - DNA SEQ blood - retinal disease ? PubMed: Burgueno-Montanes 2012 - ? - - - - - - - 1 LOVD
+?/. - c.1495C>T r.(?) p.(Arg499*) - Unknown - likely pathogenic g.99013128C>T g.98396665C>T CNGA3 c.1495C>T, (p.Arg499*) - CNGA3_000041 - PubMed: Matet 2018 - - Unknown ? - - - - DNA SEQ-NG - tagreted next-generation sequencing retinal disease 4 PubMed: Matet 2018 - M yes France white - - - - 1 LOVD
+?/. - c.1495C>T r.(?) p.(Arg499*) - Parent #2 ACMG likely pathogenic g.99013128C>T g.98396665C>T CNGA3 c.1495C>T - CNGA3_000041 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.1495C>T r.(?) p.(Arg499*) - Both (homozygous) ACMG likely pathogenic g.99013128C>T g.98396665C>T CNGA3 c.1495C>T - CNGA3_000041 homozygous PubMed: Solaki 2022 - - Unknown ? - - - - DNA SEQ blood - retinal disease ? PubMed: Solaki 2022 number of independent families: 5 ; number of affected individuals: 6; segregation analysis: both parents: 4, one parent or other relatives: 1; no segregation analysis possible: 1 - - - - - - - - 1 LOVD
+?/. - c.1495C>T r.(?) p.(Arg499*) - Parent #1 ACMG likely pathogenic g.99013128C>T g.98396665C>T CNGA3 c.1495C>T - CNGA3_000041 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.1495C>T r.(?) p.(Arg499*) - Parent #1 ACMG likely pathogenic g.99013128C>T g.98396665C>T CNGA3 c.1495C>T - CNGA3_000041 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.1495C>T r.(?) p.(Arg499*) - Parent #1 ACMG likely pathogenic g.99013128C>T g.98396665C>T CNGA3 c.1495C>T - CNGA3_000041 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.1495C>T r.(?) p.(Arg499*) - Parent #1 ACMG likely pathogenic g.99013128C>T g.98396665C>T CNGA3 c.1495C>T - CNGA3_000041 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.1495C>T r.(?) p.(Arg499*) - Parent #1 ACMG likely pathogenic g.99013128C>T g.98396665C>T CNGA3 c.1495C>T - CNGA3_000041 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.1495C>T r.(?) p.(Arg499*) - Parent #2 ACMG likely pathogenic g.99013128C>T g.98396665C>T CNGA3 c.1495C>T - CNGA3_000041 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.1495C>T r.(?) p.(Arg499Ter) - Parent #2 ACMG pathogenic (recessive) g.99013128C>T g.98396665C>T - - CNGA3_000041 ACMG PVS1_strong, PM3_strong, PM2_sup, PS4_moderate PubMed: Andersen 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel ACHM Fam219Pat7 PubMed: Andersen 2023 family, 3 affected - no Denmark - - - - - 3 Susanne Kohl
+/. - c.1495C>T r.(?) p.(Arg499Ter) - Parent #2 ACMG pathogenic (recessive) g.99013128C>T g.98396665C>T - - CNGA3_000041 ACMG PVS1_strong, PM3_strong, PM2_sup, PS4_moderate PubMed: Andersen 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel ACHM Fam219Pat40 PubMed: Andersen 2023 sib - no Denmark - - - - - 1 Susanne Kohl
+/. - c.1495C>T r.(?) p.(Arg499Ter) - Parent #2 ACMG pathogenic (recessive) g.99013128C>T g.98396665C>T - - CNGA3_000041 ACMG PVS1_strong, PM3_strong, PM2_sup, PS4_moderate PubMed: Andersen 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel ACHM Fam219Pat64 PubMed: Andersen 2023 sib - no Denmark - - - - - 1 Susanne Kohl
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