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.

34 entries on 1 page. Showing entries 1 - 34.
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     
+?/. 7 c.830G>A r.(?) p.(Arg277His) - Maternal (confirmed) - likely pathogenic g.99012463G>A g.98396000G>A - - CNGA3_000048 - Sharon, submitted - - Germline - - - - - DNA SEQ - - ACHM3 - Sharon, submitted - F no Israel Jewish - - - - 3 Dror Sharon
+/. - c.830G>A r.(?) p.(Arg277His) - Both (homozygous) ACMG pathogenic g.99012463G>A - - - CNGA3_000048 ACMG grading: PS4,PM1,PM2,PM3,PM5,PP3 Wissinger et al. 2001. Am J Hum Genet 69: 722; Muraki-Oda et al. 2007. Biochem Biophys Res Commun 362: 88; Fahim et al. 2013. Am J Ophthalmol 156: 12112; Huang et al. 2016. Exp Eye Res 146: 252 - rs778114016 Germline - - - - - DNA SEQ-NG-S - - ? - - - F - - - - - - - 1 Andreas Laner
+?/. - c.830G>A r.(?) p.(Arg277His) - Parent #1 - likely pathogenic (recessive) g.99012463G>A g.98396000G>A - - CNGA3_000048 - PubMed: Li 2014, PubMed: Huang 2016 - - Germline - - - - - DNA SEQ - - retinal disease LH20 PubMed: Li 2014, PubMed: Huang 2016 see paper ... - - China - - - - - 1 Johan den Dunnen
+?/. - c.830G>A r.(?) p.(Arg277His) - Both (homozygous) - likely pathogenic (recessive) g.99012463G>A g.98396000G>A - - CNGA3_000048 - PubMed: Li 2014, PubMed: Huang 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease QT412 PubMed: Li 2014, PubMed: Huang 2016 see paper ... - - China - - - - - 1 Johan den Dunnen
+?/. - c.830G>A r.(?) p.(Arg277His) - Parent #1 - likely pathogenic (recessive) g.99012463G>A g.98396000G>A - - CNGA3_000048 - PubMed: Li 2014, PubMed: Huang 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease QT435 PubMed: Li 2014, PubMed: Huang 2016 see paper ... - - China - - - - - 1 Johan den Dunnen
+?/. - c.830G>A r.(?) p.(Arg277His) - Parent #1 - likely pathogenic (recessive) g.99012463G>A g.98396000G>A - - CNGA3_000048 - PubMed: Li 2014, PubMed: Huang 2016 - - Germline - - - - - DNA SEQ - - retinal disease QT1062 PubMed: Li 2014, PubMed: Huang 2016 see paper ... - - China - - - - - 1 Johan den Dunnen
+/. - c.830G>A r.(?) p.(Arg277His) - Parent #2 - pathogenic g.99012463G>A g.98396000G>A - - CNGA3_000048 - PubMed: Greenberg 2014 - - Germline - - - - - DNA SEQ - - retinal disease Pat8 PubMed: Greenberg 2014 patient - - United States - - - - - 1 LOVD
+?/. - c.830G>A r.(?) p.(Arg277His) - Unknown - likely pathogenic g.99012463G>A g.98396000G>A c.830G>A, p.(Arg277His) - CNGA3_000048 compound heterozygous PubMed: Wang 2019 - - Germline yes - - - - DNA SEQ-NG blood panel of 126 genes retinal disease 13556 PubMed: Wang 2019 - F - China - - - - - 1 LOVD
+?/. - c.830G>A r.(?) p.(Arg277His) - Unknown - likely pathogenic g.99012463G>A g.98396000G>A c.830G>A, p.(Arg277His) - CNGA3_000048 compound heterozygous PubMed: Wang 2019 - - Germline yes - - - - DNA SEQ-NG blood panel of 126 genes retinal disease 13681 PubMed: Wang 2019 - M - China - - - - - 1 LOVD
+/. - c.830G>A r.(?) p.(Arg277His) - Both (homozygous) - pathogenic (recessive) g.99012463G>A g.98396000G>A - - CNGA3_000048 - PubMed: Wawrocka 2014 - - Germline - - - - - DNA SEQ - - retinal disease Pat10 PubMed: Wawrocka 2014 - - - Poland - - - - - 1 Johan den Dunnen
+?/. - c.830G>A r.(?) p.(Arg277His) - Parent #2 - likely pathogenic g.99012463G>A g.98396000G>A CNGA3 c.[661C>T];[830G>A] - CNGA3_000048 heterozygous; protein change not reported PubMed: Sun 2020 - - Unknown yes - - - - DNA SEQ-NG blood Whole-exome or targeted sequencing retinal disease 11902 PubMed: Sun 2020 - M - China - - - - - 1 LOVD
+?/. - c.830G>A r.(?) p.(Arg277His) - Parent #1 - likely pathogenic g.99012463G>A g.98396000G>A CNGA3 c.[830G>A];[1642G>A] - CNGA3_000048 heterozygous; protein change not reported PubMed: Sun 2020 - - Unknown yes - - - - DNA SEQ-NG blood Whole-exome or targeted sequencing retinal disease 8405 PubMed: Sun 2020 - M - China - - - - - 1 LOVD
+?/. - c.830G>A r.(?) p.(Arg277His) - Parent #1 - likely pathogenic g.99012463G>A g.98396000G>A CNGA3 c.[830G>A];[1709G>A] - CNGA3_000048 heterozygous; protein change not reported PubMed: Sun 2020 - - Unknown yes - - - - DNA SEQ-NG blood Whole-exome or targeted sequencing retinal disease 11187 PubMed: Sun 2020 - M - China - - - - - 1 LOVD
+?/. 7 c.830G>A r.(?) p.(Arg277His) - Both (homozygous) - likely pathogenic g.99012463G>A g.98396000G>A allele 1/2: R277H/R277H - CNGA3_000048 homozygous PubMed: Wissinger 2001 - - Germline yes - - - - DNA SEQ, SSCA blood direct DNA sequencing or SSCP retinal disease CHRO104/22 PubMed: Wissinger 2001 - M - Turkey - - - - - 1 LOVD
+?/. 7 c.830G>A r.(?) p.(Arg277His) - Both (homozygous) - likely pathogenic g.99012463G>A g.98396000G>A allele 1/2: R277H/R277H - CNGA3_000048 homozygous PubMed: Wissinger 2001 - - Germline yes - - - - DNA SEQ, SSCA blood direct DNA sequencing or SSCP retinal disease CHRO104/24 PubMed: Wissinger 2001 - F - Turkey - - - - - 1 LOVD
+?/. - c.830G>A r.(?) p.(Arg277His) - Parent #2 - likely pathogenic g.99012463G>A g.98396000G>A allele 1/2: R283Q/R277H - CNGA3_000048 heterozygous PubMed: Reuter 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease ZD236 PubMed: Reuter 2008 - F - Germany - - - - - 1 LOVD
+?/. 7 c.830G>A r.(?) p.(Arg277His) - Parent #2 - likely pathogenic g.99012463G>A g.98396000G>A allele 1: c.661C>T - p.Arg221Stop, allele 2: c.830G>A - p.Arg277His - CNGA3_000048 heterozygous PubMed: Genead 2011 - - Unknown ? - - - - DNA SEQ blood - retinal disease 2 PubMed: Genead 2011 - M - United States white - - - - 1 LOVD
+?/. - c.830G>A r.(?) p.(Arg277His) - Parent #1 - likely pathogenic g.99012463G>A g.98396000G>A c.830G>A I c.1669G>A - CNGA3_000048 heterozygous PubMed: Zelinger 2015y - - Germline yes - - - - DNA SEQ blood - retinal disease MOL0502-1 PubMed: Zelinger 2015 - - no Israel Jewish (Iraq I Algeria , Tunis I Algeria - - - - 1 LOVD
+?/. - c.830G>A r.(?) p.(Arg277His) - Parent #1 - likely pathogenic g.99012463G>A g.98396000G>A c.830G>A I c.1669G>A - CNGA3_000048 heterozygous PubMed: Zelinger 2015y - - Germline yes - - - - DNA SEQ blood - retinal disease MOL0502-2 PubMed: Zelinger 2015 - - no Israel Jewish (Iraq I Algeria , Tunis I Algeria) - - - - 1 LOVD
+?/. - c.830G>A r.(?) p.(Arg277His) - Parent #2 - likely pathogenic g.99012463G>A g.98396000G>A CNGA3 c.830G>A, p.R277H* - CNGA3_000048 heterozygous PubMed: Liang 2015 - - Germline yes - - - - DNA SEQ blood - retinal disease F4-II1 PubMed: Liang 2015 - M - China - - - - - 1 LOVD
+/. - c.830G>A r.(?) p.(Arg277His) - Parent #2 ACMG pathogenic g.99012463G>A g.98396000G>A CNGA3 c.830G>A - CNGA3_000048 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.830G>A r.(?) p.(Arg277His) - Parent #2 ACMG pathogenic g.99012463G>A g.98396000G>A CNGA3 c.830G>A - CNGA3_000048 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.830G>A r.(?) p.(Arg277His) - Both (homozygous) ACMG pathogenic g.99012463G>A g.98396000G>A CNGA3 c.830G>A - CNGA3_000048 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: 2, one parent or other relatives: 0; no segregation analysis possible: 2 - - - - - - - - 1 LOVD
+/. - c.830G>A r.(?) p.(Arg277His) - Parent #1 ACMG pathogenic g.99012463G>A g.98396000G>A CNGA3 c.830G>A - CNGA3_000048 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.830G>A r.(?) p.(Arg277His) - Parent #1 ACMG pathogenic g.99012463G>A g.98396000G>A CNGA3 c.830G>A - CNGA3_000048 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.830G>A r.(?) p.(Arg277His) - Parent #1 ACMG pathogenic g.99012463G>A g.98396000G>A CNGA3 c.830G>A - CNGA3_000048 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.830G>A r.(?) p.(Arg277His) - Parent #1 ACMG pathogenic g.99012463G>A g.98396000G>A CNGA3 c.830G>A - CNGA3_000048 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.830G>A r.(?) p.(Arg277His) - Parent #1 ACMG pathogenic g.99012463G>A g.98396000G>A CNGA3 c.830G>A - CNGA3_000048 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.830G>A r.(?) p.(Arg277His) - Parent #1 ACMG pathogenic g.99012463G>A g.98396000G>A CNGA3 c.830G>A - CNGA3_000048 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.830G>A r.(?) p.(Arg277His) - Parent #1 ACMG pathogenic g.99012463G>A g.98396000G>A CNGA3 c.830G>A - CNGA3_000048 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.830G>A r.(?) p.(Arg277His) - Parent #2 ACMG pathogenic g.99012463G>A g.98396000G>A CNGA3 c.830G>A - CNGA3_000048 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.830G>A r.(?) p.(Arg277His) - Parent #2 ACMG pathogenic g.99012463G>A g.98396000G>A CNGA3 c.830G>A - CNGA3_000048 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.830G>A r.(?) p.(Arg277His) - Unknown ACMG pathogenic (recessive) g.99012463G>A g.98396000G>A - - CNGA3_000048 ACMG PS1_MODERATE, PP3, PM2, PM5, PM1, PP2, PP5_STRONG PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? ACHM-1271 PubMed: Weisschuh 2024 family, 2 affected F - Germany - - - - - 2 Johan den Dunnen
+/. - c.830G>A r.(?) p.(Arg277His) - Parent #1 - pathogenic g.99012463G>A g.98396000G>A - - CNGA3_000048 - PubMed: Midgley 2024 - rs778114016 Germline - - - - - DNA SEQ-NG - gene panel retinal disease Pat66 PubMed: Midgley 2024 - F - South Africa Africa-indigenous - - - - 1 Johan den Dunnen
Legend   How to query  


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