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.

25 entries on 1 page. Showing entries 1 - 25.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Methylation     

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Disease     

ID_report     

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Owner     
+?/. - c.2053G>A r.(?) p.(Val685Met) Unknown - likely pathogenic g.149263074C>T g.149883511C>T PDE6A(NM_000440.3):c.2053G>A (p.V685M) - PDE6A_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 16 c.2053G>A r.(?) p.(Val685Met) Both (homozygous) - likely pathogenic (recessive) g.149263074C>T - p.Val685Met - PDE6A_000033 - PubMed: Anasagasti-2013 - rs121909835 Germline yes - - - - DNA SEQ blood - retinal disease - PubMed: Anasagasti-2013 - - - Spain - - - - - 1 LOVD
+?/. - c.2053G>A r.(?) p.(Val685Met) Unknown - likely pathogenic g.149263074C>T g.149883511C>T PDE6A c.2053G>A, p.Val685Met - PDE6A_000033 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 039-473 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.2053G>A r.(?) p.(Val685Met) Unknown - likely pathogenic g.149263074C>T g.149883511C>T c.2053G>A, p.Val685Met - PDE6A_000033 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 121-168 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.2053G>A r.(?) p.(Val685Met) Parent #1 - likely pathogenic g.149263074C>T g.149883511C>T PDE6A, variant 1: c.2053G>A/p.V685M , variant 2: c.2053G>A/p.V685M - PDE6A_000033 solved, homozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ blood Sanger sequencing retinal disease 138 PubMed: Weisschuh 2020 Filing key number: 60, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.2053G>A r.(?) p.(Val685Met) Parent #1 - likely pathogenic g.149263074C>T g.149883511C>T PDE6A, variant 1: c.2053G>A/p.V685M , variant 2: c.2053G>A/p.V685M - PDE6A_000033 solved, homozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET1 targeted sequencing panel - see paper retinal disease 139 PubMed: Weisschuh 2020 Filing key number: 60, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.2053G>A r.(?) p.(Val685Met) Parent #1 - likely pathogenic g.149263074C>T g.149883511C>T PDE6A, variant 1: c.304C>A/p.R102S, variant 2: c.2053G>A/p.V685M - PDE6A_000033 solved, compound heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET9 targeted sequencing panel - see paper retinal disease 799 PubMed: Weisschuh 2020 Filing key number: 316, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.2053G>A r.(?) p.(Val685Met) Parent #1 - likely pathogenic g.149263074C>T g.149883511C>T PDE6A, variant 1: c.304C>A/p.R102S, variant 2: c.2053G>A/p.V685M - PDE6A_000033 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET1 targeted sequencing panel - see paper retinal disease 1027 PubMed: Weisschuh 2020 Filing key number: 552, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.2053G>A r.(?) p.(Val685Met) Parent #1 - likely pathogenic g.149263074C>T g.149883511C>T PDE6A, variant 1: c.676del/p.H226Tfs*2, variant 2: c.2053G>A/p.V685M - PDE6A_000033 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET2 targeted sequencing panel - see paper retinal disease 1119 PubMed: Weisschuh 2020 Filing key number: 764, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.2053G>A r.(?) p.(Val685Met) Parent #1 - likely pathogenic g.149263074C>T g.149883511C>T PDE6A, variant 1: c.38T>A/p.L13Q, variant 2: c.2053G>A/p.V685M - PDE6A_000033 possibly solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET7 targeted sequencing panel - see paper retinal disease 1163 PubMed: Weisschuh 2020 Filing key number: 828, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.2053G>A r.(?) p.(Val685Met) Unknown - likely pathogenic g.149263074C>T g.149883511C>T PDE6A c.2053G>A, p.Val685Met - PDE6A_000033 heterozygous PubMed: Thorsteinsson 2021 - - Unknown ? - - - - DNA SEQ-NG - retrospective analysis retinal disease RP6 PubMed: Thorsteinsson 2021 - ? - Iceland - - - - - 1 LOVD
+?/. - c.2053G>A r.(?) p.(Val685Met) Unknown - likely pathogenic g.149263074C>T g.149883511C>T PDE6A c.2053G>A, p.Val685Met - PDE6A_000033 heterozygous PubMed: Thorsteinsson 2021 - - Unknown ? - - - - DNA SEQ-NG - retrospective analysis retinal disease RP7 PubMed: Thorsteinsson 2021 - ? - Iceland - - - - - 1 LOVD
+/. 16 c.2053G>A r.(?) p.(Val685Met) Unknown - pathogenic (recessive) g.149263074C>T - c.2053G>A - PDE6A_000033 - PubMed: Colombo-2020 - rs121909835 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - M no - - - - - - 1 LOVD
+/. - c.2053G>A r.(?) p.(Val685Met) Both (homozygous) ACMG pathogenic g.149263074C>T g.149883511C>T PDE6A c.2053G>A/p.V685M - PDE6A_000033 HGMD: CM106644; homozygous PubMed: Kuehlewein 2020 - - Germline yes - - - - DNA ? - retrospective study retinal disease 11 PubMed: Kuehlewein 2020 - - - Germany - - - - - 1 LOVD
+/. - c.2053G>A r.(?) p.(Val685Met) Both (homozygous) ACMG pathogenic g.149263074C>T g.149883511C>T PDE6A c.2053G>A/p.V685M - PDE6A_000033 HGMD: CM106644; homozygous PubMed: Kuehlewein 2020 - - Germline yes - - - - DNA ? - retrospective study retinal disease 10 PubMed: Kuehlewein 2020 - - - Germany - - - - - 1 LOVD
+/. - c.2053G>A r.(?) p.(Val685Met) Unknown ACMG pathogenic g.149263074C>T g.149883511C>T PDE6A c.2053G>A/p.V685M - PDE6A_000033 HGMD: CM106644; heterozygous PubMed: Kuehlewein 2020 - - Unknown ? - - - - DNA ? - retrospective study retinal disease 49 PubMed: Kuehlewein 2020 - - - Germany - - - - - 1 LOVD
+/. - c.2053G>A r.(?) p.(Val685Met) Parent #2 ACMG pathogenic g.149263074C>T g.149883511C>T PDE6A c.2053G>A/p.V685M - PDE6A_000033 HGMD: CM106644; heterozygous PubMed: Kuehlewein 2020 - - Germline yes - - - - DNA ? - retrospective study retinal disease 104 PubMed: Kuehlewein 2020 - - - Germany - - - - - 1 LOVD
+/. - c.2053G>A r.(?) p.(Val685Met) Parent #2 ACMG pathogenic g.149263074C>T g.149883511C>T PDE6A c.2053G>A/p.V685M - PDE6A_000033 HGMD: CM106644; heterozygous PubMed: Kuehlewein 2020 - - Germline yes - - - - DNA ? - retrospective study retinal disease 29 PubMed: Kuehlewein 2020 - - - Germany - - - - - 1 LOVD
+/. - c.2053G>A r.(?) p.(Val685Met) Parent #2 ACMG pathogenic g.149263074C>T g.149883511C>T PDE6A c.2053G>A/p.V685M - PDE6A_000033 HGMD: CM106644; heterozygous PubMed: Kuehlewein 2020 - - Germline yes - - - - DNA ? - retrospective study retinal disease 14 PubMed: Kuehlewein 2020 - - - Germany - - - - - 1 LOVD
+/. - c.2053G>A r.(?) p.(Val685Met) Parent #2 ACMG pathogenic g.149263074C>T g.149883511C>T PDE6A c.2053G>A/p.V685M - PDE6A_000033 HGMD: CM106644; heterozygous PubMed: Kuehlewein 2020 - - Germline yes - - - - DNA ? - retrospective study retinal disease 15 PubMed: Kuehlewein 2020 - - - Germany - - - - - 1 LOVD
+/. - c.2053G>A r.(?) p.(Val685Met) Parent #2 ACMG pathogenic g.149263074C>T g.149883511C>T PDE6A c.2053G>A/p.V685M - PDE6A_000033 HGMD: CM106644; heterozygous PubMed: Kuehlewein 2020 - - Germline yes - - - - DNA ? - retrospective study retinal disease 16 PubMed: Kuehlewein 2020 - - - Germany - - - - - 1 LOVD
+/. - c.2053G>A r.(?) p.(Val685Met) Parent #2 ACMG pathogenic g.149263074C>T g.149883511C>T PDE6A c.2053G>A/p.V685M - PDE6A_000033 HGMD: CM106644; heterozygous PubMed: Kuehlewein 2020 - - Germline yes - - - - DNA ? - retrospective study retinal disease 30 PubMed: Kuehlewein 2020 - - - Germany - - - - - 1 LOVD
+/. - c.2053G>A r.(?) p.(Val685Met) Unknown ACMG pathogenic g.149263074C>T g.149883511C>T PDE6A c.2053G>A/p.V685M - PDE6A_000033 HGMD: CM106644; heterozygous PubMed: Kuehlewein 2020 - - Unknown ? - - - - DNA ? - retrospective study retinal disease 106 PubMed: Kuehlewein 2020 - - - Germany - - - - - 1 LOVD
+/. 16 c.2053G>A r.(?) p.(Val685Met) Parent #2 - pathogenic g.149263074C>T - c.2053G>A - PDE6A_000033 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. - c.2053G>A r.(?) p.(Val685Met) Both (homozygous) ACMG pathogenic g.149263074C>T - - - PDE6A_000033 - Villafuerte-de la Cruz RA, et al., 2023. Submitted ClinVar-1028115 rs121909835 Germline yes - - - - DNA SEQ-NG-I BUCCAL SWAB - RP43 4161847 Villafuerte-de la Cruz RA, et al., 2023. Submitted - M likely Mexico Hispanic - - - none 1 Rocio Villafuerte-de la Cruz
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