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.

19 entries on 1 page. Showing entries 1 - 19.
Legend   How to query  

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.947C>T r.(?) p.(Ser316Phe) Unknown ACMG pathogenic g.47939552G>A g.47937535G>A NM_001379270.1:c.947C>T - CNGA1_000011 ACMG PP1, PP3, PM2, PS3, PP5; not in 142 controls PubMed: Horbacz 2025 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES scoliosis Pat13 PubMed: Horbacz 2025 patient, affected F - Poland - - - - - 1 Johan den Dunnen
?/. - c.947C>T r.(?) p.(Ser316Phe) Unknown ACMG pathogenic g.47939552G>A g.47937535G>A NM_001379270.1:c.947C>T - CNGA1_000011 ACMG PP1, PP3, PM2, PS3, PP5; not in 142 controls PubMed: Horbacz 2025 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES scoliosis Pat66 PubMed: Horbacz 2025 patient, affected mother and father F - Poland - - - - - 1 Johan den Dunnen
+?/. - c.959C>T r.(?) p.(Ser320Phe) Parent #1 - likely pathogenic g.47939552G>A g.47937535G>A CNGA1, variant 1: c.959C>T/p.S320F, variant 2: c.1105C>A/p.P369T - CNGA1_000011 error in annotation, variant matches transcript NM_000087.3 and not the indicated NM_001142564.1, possibly solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET3 targeted sequencing panel - see paper retinal disease 78 PubMed: Weisschuh 2020 Filing key number: 40, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.959C>T r.(?) p.(Ser320Phe) Parent #1 - likely pathogenic g.47939552G>A g.47937535G>A CNGA1, variant 1: c.959C>T/p.S320F, variant 2: c.959C>T/p.S320F - CNGA1_000011 error in annotation, variant matches transcript NM_000087.3 and not the indicated NM_001142564.1, solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET7 targeted sequencing panel - see paper retinal disease 1169 PubMed: Weisschuh 2020 Filing key number: 840, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.1166C>T r.(?) p.(Ser389Phe) Unknown - likely pathogenic g.47939552G>A g.47937535G>A CNGA1(NM_000087.5):c.947C>T (p.S316F), CNGA1(NM_001142564.1):c.1166C>T (p.S389F), CNGA1(NM_001142564.2):c.947C>T (p.S316F) - CNGA1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1166C>T r.(?) p.(Ser389Phe) Unknown - likely pathogenic g.47939552G>A g.47937535G>A CNGA1(NM_000087.5):c.947C>T (p.S316F), CNGA1(NM_001142564.1):c.1166C>T (p.S389F), CNGA1(NM_001142564.2):c.947C>T (p.S316F) - CNGA1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1166C>T r.(?) p.(Ser389Phe) Unknown - likely pathogenic g.47939552G>A g.47937535G>A CNGA1(NM_000087.5):c.947C>T (p.S316F), CNGA1(NM_001142564.1):c.1166C>T (p.S389F), CNGA1(NM_001142564.2):c.947C>T (p.S316F) - CNGA1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1166C>T r.(?) p.(Ser389Phe) Unknown ACMG likely pathogenic g.47939552G>A - - - CNGA1_000011 - 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.1166C>T r.(?) p.(Ser389Phe) Parent #2 - pathogenic g.47939552G>A g.47937535G>A NM_000087.3:c.959C>T - CNGA1_000011 - PubMed: Comander 2017 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease Pat6 PubMed: Comander 2017 proband F - United States - - - - - 1 Johan den Dunnen
+/. 10 c.1166C>T r.(?) p.(Ser389Phe) Unknown - pathogenic g.47939552G>A - c.1166C>T - CNGA1_000011 - PubMed: Eisenberger-2013 - rs62625014 Germline - - - - - DNA SEQ-NG-I, SEQ-NG-R, SEQ blood - retinal disease - PubMed: Eisenberger-2013 - M no Germany - - - - - 1 LOVD
?/. 10 c.1166C>T r.(?) p.(Ser389Phe) Unknown ACMG VUS g.47939552G>A g.47937535G>A c.1166C>T , p.Ser389Phe - CNGA1_000011 Heterozygous PubMed: Birtel 2018 - rs62625014 Germline ? - - - - DNA SEQ-NG blood - retinal disease 31 PubMed: Birtel 2018 - F - Germany - - - - - 1 LOVD
+?/. - c.1166C>T r.(?) p.(Ser389Phe) Unknown ACMG likely pathogenic g.47939552G>A g.47937535G>A CNGA1 c.959C>T, p.(Ser320Phe) - CNGA1_000011 NM_000087.3(CNGA1):c.959C>T, p.(Ser320Phe); single heterozygous variant (recessive) PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 381 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+?/. - c.1166C>T r.(?) p.(Ser389Phe) Unknown ACMG likely pathogenic g.47939552G>A g.47937535G>A CNGA1 c.959C>T (pSer320Phe), ABCA4 c.768G>T, p.(Val256=), splice mutation - CNGA1_000011 single heterozygous variant (recessive) PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 382 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+?/. - c.1166C>T r.(?) p.(Ser389Phe) Unknown ACMG likely pathogenic g.47939552G>A g.47937535G>A CNGA1 c.959C>T, p.(Ser320Phe) - CNGA1_000011 single heterozygous variant (recessive) PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 383 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+/. - c.1166C>T r.(?) p.(Ser389Phe) Unknown ACMG pathogenic g.47939552G>A g.47937535G>A CNGA1 c.1166C>T, p.(Ser389Phe) - CNGA1_000011 heterozygous, probably non-causal incidental finding PubMed: Zhu 2022 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ saliva panel-based next generation sequencing retinal disease 25_28 PubMed: Zhu 2022 family 25, individual 28 M - - - - - - - 1 LOVD
+/. - c.1166C>T r.(?) p.(Ser320Phe) Unknown ACMG pathogenic (recessive) g.47939552G>A g.47937535G>A - - CNGA1_000011 ACMG PP3, PM2, PP5_STRONG; no variant 2nd chromosome PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? OAK-801 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
+/. - c.1166C>T r.(?) p.(Ser320Phe) Unknown ACMG pathogenic (recessive) g.47939552G>A g.47937535G>A - - CNGA1_000011 ACMG PP3, PM2, PP5_STRONG PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? MISC-194 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
+/. - c.1166C>T r.(?) p.(Ser320Phe) Unknown ACMG pathogenic (recessive) g.47939552G>A g.47937535G>A - - CNGA1_000011 ACMG PP3, PM2, PP5_STRONG; no variant 2nd chromosome PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? SRP-1213 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
+?/. - c.1166C>T r.(?) p.(Ser389Phe) Unknown - likely pathogenic g.47939552G>A - CNGA1(NM_000087.5):c.947C>T (p.S316F), CNGA1(NM_001142564.1):c.1166C>T (p.S389F), CNGA1(NM_001142564.2):c.947C>T (p.S316F) - CNGA1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (interacting with LOVD using scripts to download data) is strictly prohibited.
Use our APIs to retrieve data.