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.

24 entries on 1 page. Showing entries 1 - 24.
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     
+?/. 8 c.1228C>T r.(?) p.(Arg410Trp) - Parent #2 - likely pathogenic g.99012861C>T - p.R410W - CNGA3_000099 - PubMed: Nishiguchi 2005 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Nishiguchi 2005 - - - - - - - - - 1 Julia Lopez
+/. - c.1228C>T r.(?) p.(Arg410Trp) - Parent #2 - pathogenic g.99012861C>T g.98396398C>T - - CNGA3_000099 - PubMed: Greenberg 2014 - - Germline - - - - - DNA SEQ - - retinal disease Pat2 PubMed: Greenberg 2014 patient - - United States - - - - - 1 LOVD
+?/. - c.1228C>T r.(?) p.(Arg410Trp) - Maternal (confirmed) - likely pathogenic g.99012861C>T g.98396398C>T NM_001298, c.1228C>T, p.Arg410Trp - CNGA3_000099 - PubMed: Ezquerra-Inchausti 2018 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease II:1 PubMed: Ezquerra-Inchausti 2018 Family RP185, II:1 ? no Spain - - - - - 1 LOVD
+?/. - c.1228C>T r.(?) p.(Arg410Trp) - Unknown - likely pathogenic g.99012861C>T g.98396398C>T NM_001298, c.1228C>T, p.Arg410Trp - CNGA3_000099 - PubMed: Ezquerra-Inchausti 2018 - - Germline ? - - - - DNA SEQ-NG blood - retinal disease ? PubMed: Ezquerra-Inchausti 2018 Family RP188 ? ? Spain - - - - - 1 LOVD
+?/. - c.1228C>T r.(?) p.(Arg410Trp) - Both (homozygous) - likely pathogenic g.99012861C>T g.98396398C>T CNGA3 c.1228C>T, p.Arg410Trp - CNGA3_000099 only novel variants described in detail in the paper; original cohort contained over 750 patients from over 520 pedigrees, homozygous; missense mutations had to show segregation in pedigrees of at least 3 members, two of whom had to be affected. PubMed: Dockery 2017 - - Germline yes - - - - DNA SEQ-NG-I blood panel of 254 genes implicated in retinopathies retinal disease 10 PubMed: Dockery 2017 no patient numbers in the paper, consecutive numbers given ? - Ireland - - - - - 1 LOVD
+?/. 7 c.1228C>T r.(?) p.(Arg410Trp) - Parent #1 - likely pathogenic g.99012861C>T g.98396398C>T allele 1/2: R410W/V529M - CNGA3_000099 heterozygous PubMed: Wissinger 2001 - - Germline yes - - - - DNA SEQ, SSCA blood direct DNA sequencing or SSCP retinal disease CHRO15/M PubMed: Wissinger 2001 - F - Germany - - - - - 1 LOVD
+?/. 7 c.1228C>T r.(?) p.(Arg410Trp) - Both (homozygous) - likely pathogenic g.99012861C>T g.98396398C>T allele 1/2: R410W/R410W - CNGA3_000099 homozygous PubMed: Wissinger 2001 - - Germline yes - - - - DNA SEQ, SSCA blood direct DNA sequencing or SSCP retinal disease CHRO101/A PubMed: Wissinger 2001 - F - Turkey - - - - - 1 LOVD
+?/. 7 c.1228C>T r.(?) p.(Arg410Trp) - Parent #1 - likely pathogenic g.99012861C>T g.98396398C>T allele 1: c.1228C>T - p.Arg410Trp, allele 2: c.1541A>T - p.Asp514Val - CNGA3_000099 heterozygous PubMed: Genead 2011 - - Unknown ? - - - - DNA SEQ blood - retinal disease 9 PubMed: Genead 2011 - M - United States Hispanic - - - - 1 LOVD
+?/. - c.1228C>T r.(?) p.(Arg410Trp) - Parent #2 - likely pathogenic g.99012861C>T g.98396398C>T CNGA3 c.1228C>T, p.R410W* - CNGA3_000099 heterozygous PubMed: Liang 2015 - - Germline yes - - - - DNA SEQ blood - retinal disease F7-II1 PubMed: Liang 2015 - M - China - - - - - 1 LOVD
+?/. p.(Arg410Trp) c.1228C>T r.(?) p.(Arg410Trp) - Parent #1 - likely pathogenic g.99012861C>T g.98396398C>T CNGA3 1228C>T, Arg410Trp - CNGA3_000099 heterozygous PubMed: Georgiou 2019 - - Unknown ? - - - - DNA ? - retrospective research retinal disease JC_10551 PubMed: Georgiou 2019 - M - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. p.(Arg410Gly) c.1228C>T r.(?) p.(Arg410Trp) - Both (homozygous) - likely pathogenic g.99012861C>T g.98396398C>T CNGA3 1228C>G, Arg410Trp - CNGA3_000099 error in annotation, c.1228C>G causes p.(Arg410Gly) and not p.(Arg410Trp) which is caused by c.1228C>T (reported in literature); homozygous PubMed: Georgiou 2019 - - Unknown ? - - - - DNA ? - retrospective research retinal disease MM_0385 PubMed: Georgiou 2019 - M - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. p.(Arg410Trp) c.1228C>T r.(?) p.(Arg410Trp) - Parent #2 - likely pathogenic g.99012861C>T g.98396398C>T CNGA3 1228C>T, Arg410Trp - CNGA3_000099 heterozygous PubMed: Georgiou 2019 - - Unknown ? - - - - DNA ? - retrospective research retinal disease JC_0698 PubMed: Georgiou 2019 - M - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.1228C>T r.(?) p.(Arg410Trp) - Parent #1 - likely pathogenic g.99012861C>T g.98396398C>T CNGA3 nt1268 C>T (exon 7), Arg411Trp - CNGA3_000099 error in annotation, Arg is on position 410; old nucleotide numbering system, c. annotations extrapolated from literature and databases PubMed: Kohl 1998 - - Germline yes - - - - DNA SEQ - - retinal disease ACHR15_II:5 PubMed: Kohl 1998 - M - Germany - - - - - 1 LOVD
+?/. - c.1228C>T r.(?) p.(Arg410Trp) - Parent #1 - likely pathogenic g.99012861C>T g.98396398C>T CNGA3 nt1268 C>T (exon 7), Arg411Trp - CNGA3_000099 error in annotation, Arg is on position 410; old nucleotide numbering system, c. annotations extrapolated from literature and databases PubMed: Kohl 1998 - - Germline yes - - - - DNA SEQ - - retinal disease ACHR15_II:6 PubMed: Kohl 1998 - F - Germany - - - - - 1 LOVD
+/. - c.1228C>T r.(?) p.(Arg410Trp) - Parent #2 ACMG pathogenic g.99012861C>T g.98396398C>T CNGA3 c.1228C>T - CNGA3_000099 heterozygous PubMed: Solaki 2022 - - Unknown ? - - - - 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.1228C>T r.(?) p.(Arg410Trp) - Both (homozygous) ACMG pathogenic g.99012861C>T g.98396398C>T CNGA3 c.1228C>T - CNGA3_000099 homozygous PubMed: Solaki 2022 - - Germline yes - - - - DNA SEQ blood - retinal disease ? PubMed: Solaki 2022 number of independent families: 2 ; number of affected individuals: 2; segregation analysis: both parents: 2, one parent or other relatives: 0; no segregation analysis possible: 0 - - - - - - - - 1 LOVD
+/. - c.1228C>T r.(?) p.(Arg410Trp) - Parent #2 ACMG pathogenic g.99012861C>T g.98396398C>T CNGA3 c.1228C>T - CNGA3_000099 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.1228C>T r.(?) p.(Arg410Trp) - Parent #2 ACMG pathogenic g.99012861C>T g.98396398C>T CNGA3 c.1228C>T - CNGA3_000099 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.1228C>T r.(?) p.(Arg410Trp) - Parent #2 ACMG pathogenic g.99012861C>T g.98396398C>T CNGA3 c.1228C>T - CNGA3_000099 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.1228C>T r.(?) p.(Arg410Trp) - Unknown ACMG pathogenic g.99012861C>T g.98396398C>T CNGA3 c.1228C>T, p.(Arg410Trp) - CNGA3_000099 homozygous, probably causal PubMed: Zhu 2022 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ saliva panel-based next generation sequencing retinal disease 10_11 PubMed: Zhu 2022 family 10, individual 11 F - - - - - - - 1 LOVD
+/. - c.1228C>T r.(?) p.(Arg410Trp) - Unknown ACMG pathogenic g.99012861C>T g.98396398C>T CNGA3 c.1228C>T, p.(Arg410Trp) - CNGA3_000099 homozygous, probably causal PubMed: Zhu 2022 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ saliva panel-based next generation sequencing retinal disease 10_11 PubMed: Zhu 2022 family 10, individual 11 F - - - - - - - 1 LOVD
+/. - c.1228C>T r.(?) p.(Arg410Trp) - Unknown ACMG pathogenic g.99012861C>T g.98396398C>T CNGA3 c.1228C>T, p.(Arg410Trp) - CNGA3_000099 homozygous, probably causal PubMed: Zhu 2022 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ saliva panel-based next generation sequencing retinal disease 10_12 PubMed: Zhu 2022 family 10, individual 12 M - - - - - - - 1 LOVD
+/. - c.1228C>T r.(?) p.(Arg410Trp) - Unknown ACMG pathogenic g.99012861C>T g.98396398C>T CNGA3 c.1228C>T, p.(Arg410Trp) - CNGA3_000099 homozygous, probably causal PubMed: Zhu 2022 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ saliva panel-based next generation sequencing retinal disease 10_12 PubMed: Zhu 2022 family 10, individual 12 M - - - - - - - 1 LOVD
+/. - c.1228C>T r.(?) p.(Arg410Trp) - Unknown ACMG pathogenic g.99012861C>T g.98396398C>T - - CNGA3_000099 - Villafuerte-de la Cruz RA, et al., 2023. Submitted ClinVar-9479 rs137852608 Germline yes - - - - DNA SEQ-NG-I - - retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness 3312285 Villafuerte-de la Cruz RA, et al., 2023. Submitted - F no Mexico Hispanic - - - - 1 Rocio Villafuerte-de la Cruz
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.