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.1694C>T r.(?) p.(Thr565Met) - Unknown - VUS g.99013327C>T g.98396864C>T CNGA3(NM_001298.3):c.1694C>T (p.T565M) - CNGA3_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 8 c.1694C>T r.(?) p.(Thr565Met) - Unknown - likely pathogenic g.99013327C>T - c.1694C>T (p.T565M) - CNGA3_000072 - PubMed: Thiadens_2010 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Thiadens_2010 - - - Netherlands - - - - - 1 LOVD
+/. 8 c.1694C>T r.(?) p.(Thr565Met) - Unknown - pathogenic g.99013327C>T - c.1694C>T - CNGA3_000072 - PubMed: Sundaram_2014 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Sundaram_2014 - F - - - - - - - 1 Julia Lopez
+?/. - c.1694C>T r.(?) p.(Thr565Met) - Parent #1 - likely pathogenic g.99013327C>T g.98396864C>T CNGA3, variant 1: c.1694C>T/p.T565M, variant 2: c.1694C>T/p.T565M - CNGA3_000072 solved, homozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET9 targeted sequencing panel - see paper retinal disease 1003 PubMed: Weisschuh 2020 Filing key number: 468, cone dystrophy, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. 7 c.1694C>T r.(?) p.(Thr565Met) - Parent #2 - likely pathogenic g.99013327C>T g.98396864C>T allele 1/2: R283W/T565M - CNGA3_000072 heterozygous PubMed: Wissinger 2001 - - Germline yes - - - - DNA SEQ, SSCA blood direct DNA sequencing or SSCP retinal disease CHRO243/9-1 PubMed: Wissinger 2001 - M - Italy - - - - - 1 LOVD
+?/. 7 c.1694C>T r.(?) p.(Thr565Met) - Parent #2 ACMG likely pathogenic g.99013327C>T g.98396864C>T allele 1/2: G525D/T565M - CNGA3_000072 ACMG PM2, PS4, PM3, PS3_MOD PubMed: Wissinger 2001, PubMed: Andersen 2023 - - Germline yes - - - - DNA SEQ, SSCA blood direct DNA sequencing or SSCP retinal disease CHRO79/O; Fam209Pat43 PubMed: Wissinger 2001, PubMed: Andersen 2023 sib M - Denmark - - - - - 1 LOVD
+?/. - c.1694C>T r.(?) p.(Thr565Met) - Parent #2 - likely pathogenic g.99013327C>T g.98396864C>T c.1694 C > T (Thr565Met) - CNGA3_000072 heterozygous PubMed: Vincent 2011 - - Germline - - - - - DNA SEQ blood - retinal disease 1 PubMed: Vincent 2011 - M - Canada - - - - - 1 LOVD
+?/. - c.1694C>T r.(?) p.(Thr565Met) - Parent #2 - likely pathogenic g.99013327C>T g.98396864C>T CNGA3 heterozygous p.Y357C:c.1070A>G, p.T565M:c.1694C>T - CNGA3_000072 - PubMed: Yang 2014 - - Unknown ? - - - - DNA SEQ blood - retinal disease 6 PubMed: Yang 2014 - F - - - - - - - 1 LOVD
+/. - c.1694C>T r.(?) p.(Thr565Met) - Parent #2 ACMG pathogenic g.99013327C>T g.98396864C>T CNGA3 c.1694C>T - CNGA3_000072 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.1694C>T r.(?) p.(Thr565Met) - Parent #2 ACMG pathogenic g.99013327C>T g.98396864C>T CNGA3 c.1694C>T - CNGA3_000072 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.1694C>T r.(?) p.(Thr565Met) - Parent #1 ACMG pathogenic g.99013327C>T g.98396864C>T CNGA3 c.1694C>T - CNGA3_000072 heterozygous PubMed: Solaki 2022 - - Germline yes - - - - DNA SEQ blood - retinal disease ? PubMed: Solaki 2022 number of independent families: 1 ; number of affected individuals: 3; segregation analysis: both parents: 0, one parent or other relatives: 3; no segregation analysis possible: 0 - - - - - - - - 1 LOVD
+/. - c.1694C>T r.(?) p.(Thr565Met) - Both (homozygous) ACMG pathogenic g.99013327C>T g.98396864C>T CNGA3 c.1694C>T - CNGA3_000072 homozygous 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.1694C>T r.(?) p.(Thr565Met) - Parent #2 ACMG pathogenic g.99013327C>T g.98396864C>T CNGA3 c.1694C>T - CNGA3_000072 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.1694C>T r.(?) p.(Thr565Met) - Parent #2 ACMG pathogenic g.99013327C>T g.98396864C>T CNGA3 c.1694C>T - CNGA3_000072 heterozygous PubMed: Solaki 2022 - - Germline - - - - - 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.1694C>T r.(?) p.(Thr565Met) - Parent #2 ACMG pathogenic g.99013327C>T g.98396864C>T CNGA3 c.1694C>T - CNGA3_000072 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.1694C>T r.(?) p.(Thr565Met) - Unknown ACMG pathogenic (recessive) g.99013327C>T g.98396864C>T - - CNGA3_000072 ACMG PP3, PM2, PM1, PP2, PP5_STRONG PubMed: Weisschuh 2024 867082 - Germline - - - - - DNA SEQ-NG - WGS ? CD-391 PubMed: Weisschuh 2024 family, 2 affected M - Germany - - - - - 2 Johan den Dunnen
+/. 8 c.1694C>T r.(?) p.(Thr565Met) - Parent #2 ACMG pathogenic g.99013327C>T g.98396864C>T - - CNGA3_000072 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 066691 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
+/. 8 c.1694C>T r.(?) p.(Thr565Met) - Parent #2 ACMG pathogenic g.99013327C>T g.98396864C>T - - CNGA3_000072 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 072759 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
+?/. - c.1694C>T r.(?) p.(Thr565Met) - Parent #2 ACMG likely pathogenic (recessive) g.99013327C>T g.98396864C>T - - CNGA3_000072 ACMG PM2, PS4, PM3, PS3_MOD PubMed: Andersen 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel ACHM Fam209Pat42 PubMed: Andersen 2023 family, 3 affected - no Denmark - - - - - 3 Susanne Kohl
+?/. - c.1694C>T r.(?) p.(Thr565Met) - Parent #2 ACMG likely pathogenic (recessive) g.99013327C>T g.98396864C>T - - CNGA3_000072 ACMG PM2, PS4, PM3, PS3_MOD PubMed: Andersen 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel ACHM Fam209Pat96 PubMed: Andersen 2023 sib - no Denmark - - - - - 1 Susanne Kohl
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