Full data view for gene CNGA1

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the transcript reference sequence.

13 entries on 1 page. Showing entries 1 - 13.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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.301C>T r.(?) p.(Arg101*) Unknown - pathogenic g.47954625G>A g.47952608G>A - - CNGA1_000026 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs199636364 Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
+?/. - c.301C>T r.(?) p.(Arg101Ter) Unknown - likely pathogenic g.47954625G>A g.47952608G>A CNGA1(NM_000087.3):c.94C>T (p.(Arg32Ter)), CNGA1(NM_001142564.2):c.82C>T (p.R28*) - CNGA1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.301C>T r.(?) p.(Arg101Ter) Unknown - pathogenic g.47954625G>A g.47952608G>A CNGA1(NM_000087.3):c.94C>T (p.(Arg32Ter)), CNGA1(NM_001142564.2):c.82C>T (p.R28*) - CNGA1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.301C>T r.(?) p.(Arg101*) Unknown ACMG pathogenic g.47954625G>A - - - CNGA1_000026 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.301C>T r.(?) p.(Arg101*) Parent #1 - likely pathogenic g.47954625G>A g.47952608G>A NM_000087.3:c.94C>T - CNGA1_000026 - PubMed: Perez-Carro 2016 - - Germline yes - - - - DNA SEQ-NG - gene panel retinal disease RP-1147 PubMed: Perez-Carro 2016 - - - Spain - - - - - 1 LOVD
+/. - c.301C>T r.(?) p.(Arg101Ter) Both (homozygous) - pathogenic g.47954625G>A g.47952608G>A - - CNGA1_000026 - PubMed: Méndez-Vidal 2014 - - Germline - - - - - DNA arraySEQ - Reseq retinal disease Pat7 PubMed: Méndez-Vidal 2014 - - - Spain - - - - - 1 LOVD
+/. 5 c.301C>T r.(?) p.(Arg101*) Both (homozygous) ACMG pathogenic g.47954625G>A g.47952608G>A - - CNGA1_000026 - Tracewska 2021, MolVis in press - - Germline - 0 (in-house database, ~5000 samples) - - - DNA SEQ-NG-I, SEQ blood targeted resequencing using MIPs library prep, 108-gene panel retinal disease 317 Tracewska 2021, MolVis in press proband F no Poland Slavic - - yes - 1 LOVD
+?/. 5 c.301C>T r.(?) p.(Arg101*) Maternal (confirmed) - likely pathogenic g.47954625G>A g.47952608G>A c.94C>T, p.(Arg32*) NM_000087.3 - CNGA1_000026 another transcript in publication PubMed: Martin-Merida 2018 - - Germline yes 1/258 - - - DNA ? - various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES retinal disease RP-0038 PubMed: Martin-Merida 2018 - - - Spain - - - - - 1 LOVD
+?/. - c.301C>T r.(?) p.(Arg101*) Unknown - likely pathogenic g.47954625G>A g.47952608G>A NM_001142564, c.301C>T, p.Arg101Ter - CNGA1_000026 - PubMed: Ezquerra-Inchausti 2018 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease II:3 PubMed: Ezquerra-Inchausti 2018 Family RP77, II:3 ? no Spain - - - - - 1 LOVD
+?/. - c.301C>T r.(?) p.(Arg101*) Unknown - likely pathogenic g.47954625G>A g.47952608G>A NM_001142564, c.301C>T, p.Arg101Ter - CNGA1_000026 - PubMed: Ezquerra-Inchausti 2018 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease II:4 PubMed: Ezquerra-Inchausti 2018 Family RP77, II:4 ? no Spain - - - - - 1 LOVD
+?/. 6 c.301C>T r.(?) p.(Arg101*) Both (homozygous) - likely pathogenic g.47954625G>A g.47952608G>A CNGA1 c.82C>T; R28X - CNGA1_000026 different transcript; NM_001379270.1(CNGA1):c.82C>T, p.(Arg28*) = NM_001142564.1(CNGA1):c.301C>T, p.(Arg101*); homozygous PubMed: Paloma 2002 - - Germline ? - - - - DNA STR, SEQ, RFLP blood - retinal disease M-68_II:6 PubMed: Paloma 2002 family M-68, individual II:6, proband M - Spain - - - - - 1 LOVD
+?/. 6 c.301C>T r.(?) p.(Arg101*) Both (homozygous) - likely pathogenic g.47954625G>A g.47952608G>A CNGA1 c.82C>T; R28X - CNGA1_000026 different transcript; NM_001379270.1(CNGA1):c.82C>T, p.(Arg28*) = NM_001142564.1(CNGA1):c.301C>T, p.(Arg101*); homozygous PubMed: Paloma 2002 - - Germline ? - - - - DNA STR, SEQ, RFLP blood - retinal disease M-68_II:1 PubMed: Paloma 2002 family M-68, individual II:1, proband's sister F - Spain - - - - - 1 LOVD
+/. - c.301C>T r.(?) p.(Arg32Ter) Both (homozygous) ACMG pathogenic (recessive) g.47954625G>A g.47952608G>A - - CNGA1_000026 ACMG PM2, PVS1, PP5 PubMed: Weisschuh 2024 548707 - Germline - - - - - DNA SEQ-NG - WGS ? ARRP-408 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
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