Full data view for gene PDE6A

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_000440.2 transcript reference sequence.

26 entries on 1 page. Showing entries 1 - 26.
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Effect     

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AscendingDNA change (cDNA)     

RNA change     

Protein     

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DNA change (genomic) (hg19)     

DNA change (hg38)     

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ClinVar ID     

dbSNP ID     

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ID_report     

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+/. 16 c.1957C>T r.(?) p.(Arg653*) Both (homozygous) - pathogenic g.149264112G>A g.149884549G>A - - PDE6A_000053 - Sharon, submitted - - Germline - - - - - DNA SEQ - - retinal disease - Sharon, submitted - F no Israel Ethiopia;Jewish - - - - 1 Dror Sharon
+/. - c.1957C>T r.(?) p.(Arg653*) Unknown ACMG pathogenic g.149264112G>A - - - PDE6A_000053 - 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.1957C>T r.(?) p.(Arg653*) Both (homozygous) - pathogenic (recessive) g.149264112G>A - 5:149264112G>A ENST00000255266.5:c.1957C>T (Arg653Ter) - PDE6A_000053 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G002576 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Asia-South - - - - 1 LOVD
+/. - c.1957C>T r.(?) p.(Arg653*) Both (homozygous) - pathogenic (recessive) g.149264112G>A - 5:149264112G>A ENST00000255266.5:c.1957C>T (Arg653Ter) - PDE6A_000053 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G009826 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+?/. - c.1957C>T r.(?) p.(Arg653Ter) Both (homozygous) - likely pathogenic g.149264112G>A g.149884549G>A - - PDE6A_000053 - PubMed: Perez-Carro 2016 - - Germline yes - - - - DNA SEQ-NG - gene panel retinal disease RP-0372 PubMed: Perez-Carro 2016 - - - Spain - - - - - 1 LOVD
+/. 16 c.1957C>T r.(?) p.(Arg653*) Unknown ACMG pathogenic g.149264112G>A g.149884549G>A NM_000440.2:c.1957C>T, NP_000431.2:p.(Arg653Ter), NC_000005.9:g.149264112G>A - PDE6A_000053 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - exome sequencing retinal disease 2016101710 PubMed: Wang 2018 - F ? China Han Chinese - - - - 1 LOVD
+?/. - c.1957C>T r.(?) p.(Arg653*) Maternal (confirmed) - likely pathogenic g.149264112G>A g.149884549G>A NM_000440, c.1957C>T, p.Arg653Ter - PDE6A_000053 - PubMed: Ezquerra-Inchausti 2018 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease II:1 PubMed: Ezquerra-Inchausti 2018 Family RP182, II:1 ? no Spain - - - - - 1 LOVD
+?/. 16 c.1957C>T r.(?) p.(Arg653*) Unknown - likely pathogenic g.149264112G>A g.149884549G>A PDE6A Ex.13 c.1705C>A p.(Gln569Lys), Ex.16 c.1957C>T p.(Arg653*) - PDE6A_000053 compound heterozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - - retinal disease RP-1028 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 16 c.1957C>T r.(?) p.(Arg653*) Unknown - likely pathogenic g.149264112G>A g.149884549G>A PDE6A IVS6 c.998+2T>G p.(?), Ex.16 c.1957C>T p.(Arg653*) - PDE6A_000053 compound heterozygous PubMed: Martin Merida 2019 - - Germline yes - - - - DNA SEQ-NG-I - - retinal disease RP-1441 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 16 c.1957C>T r.(?) p.(Arg653*) Unknown - likely pathogenic g.149264112G>A g.149884549G>A PDE6A Ex.2 c.533T>A p.(Leu178*), Ex.16 c.1957C>T p.(Arg653*) - PDE6A_000053 compound heterozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - - retinal disease RP-1699 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 16 c.1957C>T r.(?) p.(Arg653*) Both (homozygous) - likely pathogenic g.149264112G>A g.149884549G>A PDE6A Ex.16 c.1957C>T p.(Arg653*), Ex.16 c.1957C>T p.(Arg653*) - PDE6A_000053 homozygous PubMed: Martin Merida 2019 - - Germline yes - - - - DNA SEQ-NG-I - - retinal disease RP-2178 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. - c.1957C>T r.(?) p.(Arg653*) Both (homozygous) - likely pathogenic g.149264112G>A g.149884549G>A PDE6A c.1957C>T, p.Arg653Ter - PDE6A_000053 homozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease OGI2902_004487 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.1957C>T r.(?) p.(Arg653*) Unknown - likely pathogenic g.149264112G>A g.149884549G>A c.1957C>T, p.Arg653Ter - PDE6A_000053 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease OGI2902_004487 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.1957C>T r.(?) p.(Arg653*) Parent #1 - likely pathogenic g.149264112G>A g.149884549G>A PDE6A, variant 1: c.1957C>T/p.R653*, variant 2: c.1956_1957ins20/p.R653* - PDE6A_000053 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 1208 PubMed: Weisschuh 2020 Filing key number: 928, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.1957C>T r.(?) p.(Arg653*) Both (homozygous) - likely pathogenic g.149264112G>A g.149884549G>A PDE6A c.1957C>T, p.Arg653Ter - PDE6A_000053 homozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G002576 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. - c.1957C>T r.(?) p.(Arg653*) Both (homozygous) - likely pathogenic g.149264112G>A g.149884549G>A PDE6A c.1957C>T, p.Arg653Ter - PDE6A_000053 homozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G009826 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - - - - - - - 1 LOVD
?/. - c.1957C>T r.(?) p.(Arg653*) Unknown - VUS g.149264112G>A g.149884549G>A PDE6A nucleotide 1, protein 1:c.1957C>T, p.Arg653* nucleotide 2, protein 2:c.2198A>G, p.Gln733Arg - PDE6A_000053 heterozygous, ACMG unclassified - no access to supplementary table 2 PubMed: Hull 2020 - - Germline ? - - - - DNA ? blood NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families retinal disease 60 PubMed: Hull 2020 - ? - New Zealand Asian - - - - 1 LOVD
+?/. 15 c.1957C>T r.? p.(Arg653*) Unknown - likely pathogenic (recessive) g.149264112G>A - c.1957C>T - PDE6A_000053 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - WES retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+?/. - c.1957C>T r.(?) p.(Arg653*) Maternal (confirmed) - likely pathogenic g.149264112G>A g.149884549G>A PDE6A c.1957C>T (p.R653X) - PDE6A_000053 heterozygous PubMed: Zhang 2018 - - Germline yes - - - - DNA SEQ-NG, SEQ blood targeted next-generation sequencing (NGS) of 163 genes involved in inherited retinal disorders retinal disease ? PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+/. - c.1957C>T r.(?) p.(Arg653*) Parent #1 ACMG pathogenic g.149264112G>A g.149884549G>A PDE6A c.1957C>T/p.R653* - PDE6A_000053 HGMD: CM161562; heterozygous PubMed: Kuehlewein 2020 - - Germline yes - - - - DNA ? - retrospective study retinal disease 50 PubMed: Kuehlewein 2020 - - - Germany - - - - - 1 LOVD
+/. - c.1957C>T r.(?) p.(Arg653*) Both (homozygous) ACMG pathogenic g.149264112G>A g.149884549G>A PDE6A c.1957C>T/p.R653* - PDE6A_000053 HGMD: CM161562; homozygous PubMed: Kuehlewein 2020 - - Unknown ? - - - - DNA ? - retrospective study retinal disease 21 PubMed: Kuehlewein 2020 - - - Germany - - - - - 1 LOVD
+/. - c.1957C>T r.(?) p.(Arg653*) Parent #1 ACMG pathogenic g.149264112G>A g.149884549G>A PDE6A c.1957C>T/p.R653* - PDE6A_000053 HGMD: CM161562; heterozygous PubMed: Kuehlewein 2020 - - Germline yes - - - - DNA ? - retrospective study retinal disease 19 PubMed: Kuehlewein 2020 - - - Germany - - - - - 1 LOVD
+/. - c.1957C>T r.(?) p.(Arg653*) Parent #1 ACMG pathogenic g.149264112G>A g.149884549G>A PDE6A c.1957C>T/p.R653* - PDE6A_000053 HGMD: CM161562; heterozygous PubMed: Kuehlewein 2020 - - Germline yes - - - - DNA ? - retrospective study retinal disease 39 PubMed: Kuehlewein 2020 - - - Germany - - - - - 1 LOVD
+/. - c.1957C>T r.(?) p.(Arg653*) Both (homozygous) ACMG pathogenic g.149264112G>A g.149884549G>A PDE6A c.1957C>T/p.R653* - PDE6A_000053 HGMD: CM161562; homozygous PubMed: Kuehlewein 2020 - - Unknown ? - - - - DNA ? - retrospective study retinal disease 20 PubMed: Kuehlewein 2020 - - - Germany - - - - - 1 LOVD
+?/. - c.1957C>T r.(?) p.(Arg653*) Both (homozygous) - pathogenic (recessive) g.149264112G>A g.149884549G>A - - PDE6A_000053 - PubMed: Ben Yosef 2023 - - Unknown - - - - - DNA SEQ-NG - MIPs RP43 Fam20 PubMed: Sharon 2020, PubMed: Ben Yosef 2023 family, 1 affected F yes Israel Ethiopia;Jew - - - - 1 Tamar Ben-Yosef
+/. - c.1957C>T r.(?) p.(Arg653*) Unknown ACMG pathogenic g.149264112G>A - - - PDE6A_000053 - Villafuerte-de la Cruz RA, et al., 2023. Submitted ClinVar-2356 rs753942596 Germline yes - - - - DNA SEQ-NG-I BUCCAL SWAB - retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness 2697188 Villafuerte-de la Cruz RA, et al., 2023. Submitted - F no Mexico Hispanic - - - none 1 Rocio Villafuerte-de la Cruz
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