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.

37 entries on 1 page. Showing entries 1 - 37.
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Effect     

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AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Re-site     

VIP     

Methylation     

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Disease     

ID_report     

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+/? 13 c.1705C>A r.(?) p.(Gln569Lys) Unknown - VUS g.149274769G>T g.149895206G>T - - PDE6A_000001 - - - - Unknown - - - - - DNA SEQ-NG-I - - RP - - - - - (United States) - - - - - 1 Feng Wang
+?/? 13 c.1705C>A r.(?) p.(Gln569Lys) Both (homozygous) - likely pathogenic g.149274769G>T g.149895206G>T - - PDE6A_000001 - - - - Germline yes 37/38 reads - - - DNA SEQ-NG-S, SEQ - - RP - - - F yes Libya - - - - - 1 Jill Urquhart
+/. - c.1705C>A r.(?) p.(Gln569Lys) Unknown - pathogenic g.149274769G>T g.149895206G>T - - PDE6A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1705C>A r.(?) p.(Gln569Lys) Parent #1 - pathogenic g.149274769G>T g.149895206G>T - - PDE6A_000001 - PubMed: Zenteno 2020 - - Germline - 1/143 cases - - - DNA SEQ, SEQ-NG - 199 gene panel retinal disease EC10 PubMed: Zenteno 2020 family - - Mexico - - - - - 1 Johan den Dunnen
+?/. - c.1705C>A r.(?) p.(Gln569Lys) Parent #1 - likely pathogenic (recessive) g.149274769G>T g.149895206G>T - - PDE6A_000001 - PubMed: Bryant 2018 - rs139444207 Germline - - - - - DNA SEQ-NG - WES retinal disease JB28 PubMed: Bryant 2018 - - - United States - - - - - 1 LOVD
+?/. - c.1705C>A r.(?) p.(Gln569Lys) Parent #1 - likely pathogenic g.149274769G>T g.149895206G>T - - PDE6A_000001 - PubMed: Perez-Carro 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease RP-2066 PubMed: Perez-Carro 2016 - - - Spain - - - - - 1 LOVD
+/. - c.1705C>A r.(?) p.(Gln569Lys) Parent #1 - pathogenic (recessive) g.149274769G>T g.149895206G>T - - PDE6A_000001 - PubMed: Consugar 2015 - - Germline - - - - - DNA SEQ-NG - 238-gene panel retinal disease OGI-529-1084 PubMed: Consugar 2015 - - - United States - - - - - 1 LOVD
+/. 12 c.1705C>A r.(?) p.(Gln569Lys) Both (homozygous) - pathogenic g.149274769G>T - c.1705C>A - PDE6A_000001 - PubMed: Avila Fernandez 2010 - - Germline yes - - - - DNA PE blood - retinal disease - PubMed: Avila Fernandez 2010 - - - - Spanish - - - - 1 LOVD
+?/. - c.1705C>A r.(?) p.(Gln569Lys) Paternal (inferred) - likely pathogenic g.149274769G>T g.149895206G>T NM_000440, c.1705C>A, p.Gln569Lys - PDE6A_000001 - 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
+?/. 13 c.1705C>A r.(?) p.(Gln569Lys) Unknown - likely pathogenic g.149274769G>T g.149895206G>T PDE6A Ex.13 c.1705C>A p.(Gln569Lys), Ex.16 c.1957C>T p.(Arg653*) - PDE6A_000001 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
+?/. - c.1705C>A r.(?) p.(Gln569Lys) Unknown - likely pathogenic g.149274769G>T g.149895206G>T PDE6A c.1705C>A, p.Gln569Lys - PDE6A_000001 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 121-036 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.1705C>A r.(?) p.(Gln569Lys) Parent #1 - likely pathogenic g.149274769G>T g.149895206G>T PDE6A c.1705C>A, p.Q569K - PDE6A_000001 compound heterozygous PubMed: Jauregui 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 90 PubMed: Jauregui 2020 - M - (United States) white - - - - 1 LOVD
+/. 12 c.1705C>A r.(?) p.(Gln569Lys) Unknown - pathogenic (recessive) g.149274769G>T - c.1705C>A - PDE6A_000001 - PubMed: Colombo-2020 - rs139444207 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - M no - - - - - - 1 LOVD
+/. 13 c.1705C>A r.(?) p.(Gln569Lys) Both (homozygous) ACMG pathogenic g.149274769G>T g.149895206G>T PDE6A c.1705C>A, p.(Gln569Lys) - PDE6A_000001 heterozygous PubMed: Khateb 2019 - - Unknown ? - - - - DNA SEQ-NG, SEQ - for techniques used for each patient see paper supplemental data retinal disease CIC044 95 PubMed: Khateb 2019 Family F2187 - - - - - - - - 1 LOVD
+/. 13 c.1705C>A r.(?) p.(Gln569Lys) Paternal (confirmed) ACMG pathogenic g.149274769G>T g.149895206G>T PDE6A c.1705C>A, p.(Gln569Lys) - PDE6A_000001 heterozygous PubMed: Khateb 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ - for techniques used for each patient see paper supplemental data retinal disease CIC088 20 PubMed: Khateb 2019 Family F5017 - - - - - - - - 1 LOVD
+/. 13 c.1705C>A r.(?) p.(Gln569Lys) Paternal (confirmed) ACMG pathogenic g.149274769G>T g.149895206G>T PDE6A c.1705C>A, p.(Gln569Lys) - PDE6A_000001 heterozygous; father het c.304C>A p.(Arg102Ser) mother - het c.1705C>A p.(Gln569Ly PubMed: Khateb 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ - for techniques used for each patient see paper supplemental data retinal disease CIC005 70 PubMed: Khateb 2019 Family F383 - - - - - - - - 1 LOVD
+/. 13 c.1705C>A r.(?) p.(Gln569Lys) Paternal (confirmed) ACMG pathogenic g.149274769G>T g.149895206G>T PDE6A c.1705C>A, p.(Gln569Lys) - PDE6A_000001 heterozygous PubMed: Khateb 2019 - - Unknown ? - - - - DNA SEQ-NG, SEQ - for techniques used for each patient see paper supplemental data retinal disease CIC006 44 PubMed: Khateb 2019 Family F435 - - - - - - - - 1 LOVD
+/. 13 c.1705C>A r.(?) p.(Gln569Lys) Paternal (inferred) ACMG pathogenic g.149274769G>T g.149895206G>T PDE6A c.1705C>A, p.(Gln569Lys) - PDE6A_000001 heterozygous; unaffected brother - het c.1268del p.(Leu423*) mother - het c.1705C>A p.(Gln569Lys) PubMed: Khateb 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ - for techniques used for each patient see paper supplemental data retinal disease CIC036 50 PubMed: Khateb 2019 Family F1605 - - - - - - - - 1 LOVD
+/. 13 c.1705C>A r.(?) p.(Gln569Lys) Paternal (inferred) ACMG pathogenic g.149274769G>T g.149895206G>T PDE6A c.1705C>A, p.(Gln569Lys) - PDE6A_000001 heterozygous; mother- het c.1268del PubMed: Khateb 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ - for techniques used for each patient see paper supplemental data retinal disease CIC054 88 PubMed: Khateb 2019 Family F2800, index - - - - - - - - 1 LOVD
+/. 13 c.1705C>A r.(?) p.(Gln569Lys) Paternal (inferred) ACMG pathogenic g.149274769G>T g.149895206G>T PDE6A c.1705C>A, p.(Gln569Lys) - PDE6A_000001 heterozygous PubMed: Khateb 2019 - - Unknown ? - - - - DNA SEQ-NG, SEQ - for techniques used for each patient see paper supplemental data retinal disease CIC110 40 PubMed: Khateb 2019 Family F2800, brother M - - - - - - - 1 LOVD
+/. 13 c.1705C>A r.(?) p.(Gln569Lys) Unknown ACMG pathogenic g.149274769G>T g.149895206G>T PDE6A c.1705C>A, p.(Gln569Lys) - PDE6A_000001 heterozygous PubMed: Khateb 2019 - - Unknown ? - - - - DNA SEQ-NG, SEQ - for techniques used for each patient see paper supplemental data retinal disease CIC069 49 PubMed: Khateb 2019 Family F3808 - - - - - - - - 1 LOVD
+?/. - c.1705C>A r.(?) p.(Gln569Lys) Both (homozygous) - likely pathogenic g.149274769G>T g.149895206G>T PDE6A Gln569Lys (CAG to AAG) - PDE6A_000001 no nucleotide annotation, extrapolated from protein, sequence and databases; homozygous PubMed: Dryja 1999 - - Germline yes - - - - DNA SEQ-NG-I blood - retinal disease 003-010 PubMed: Dryja 1999 family 6736 M yes - - - - - - 1 LOVD
+?/. - c.1705C>A r.(?) p.(Gln569Lys) Maternal (confirmed) - likely pathogenic g.149274769G>T g.149895206G>T PDE6A Gln569Lys (CAG to AAG) - PDE6A_000001 no nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous PubMed: Dryja 1999 - - Germline yes - - - - DNA SEQ-NG-I blood - retinal disease 003-040 (II:4) PubMed: Dryja 1999 family 5965 M - - - - - - - 1 LOVD
+?/. - c.1705C>A r.(?) p.(Gln569Lys) Maternal (confirmed) - likely pathogenic g.149274769G>T g.149895206G>T PDE6A Gln569Lys (CAG to AAG) - PDE6A_000001 no nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous PubMed: Dryja 1999 - - Germline yes - - - - DNA SEQ-NG-I blood - retinal disease 003-040 (II:1) PubMed: Dryja 1999 family 5965 M - - - - - - - 1 LOVD
+?/. - c.1705C>A r.(?) p.(Gln569Lys) Both (homozygous) ACMG likely pathogenic g.149274769G>T g.149895206G>T PDE6A c.1705C>A/p.Q569K - PDE6A_000001 HGMD: CM994743; homozygous PubMed: Kuehlewein 2020 - - Unknown ? - - - - DNA ? - retrospective study retinal disease 36 PubMed: Kuehlewein 2020 - - - Germany - - - - - 1 LOVD
+?/. - c.1705C>A r.(?) p.(Gln569Lys) Parent #1 ACMG likely pathogenic g.149274769G>T g.149895206G>T PDE6A c.1705C>A/p.Q569K - PDE6A_000001 HGMD: CM994743; heterozygous PubMed: Kuehlewein 2020 - - Germline yes - - - - DNA ? - retrospective study retinal disease 33 PubMed: Kuehlewein 2020 - - - Germany - - - - - 1 LOVD
+?/. - c.1705C>A r.(?) p.(Gln569Lys) Parent #1 ACMG likely pathogenic g.149274769G>T g.149895206G>T PDE6A c.1705C>A/p.Q569K - PDE6A_000001 HGMD: CM994743; heterozygous PubMed: Kuehlewein 2020 - - Germline yes - - - - DNA ? - retrospective study retinal disease 31 PubMed: Kuehlewein 2020 - - - Germany - - - - - 1 LOVD
+?/. - c.1705C>A r.(?) p.(Gln569Lys) Parent #1 ACMG likely pathogenic g.149274769G>T g.149895206G>T PDE6A c.1705C>A/p.Q569K - PDE6A_000001 HGMD: CM994743; heterozygous PubMed: Kuehlewein 2020 - - Germline yes - - - - DNA ? - retrospective study retinal disease 32 PubMed: Kuehlewein 2020 - - - Germany - - - - - 1 LOVD
+?/. - c.1705C>A r.(?) p.(Gln569Lys) Both (homozygous) ACMG likely pathogenic g.149274769G>T g.149895206G>T PDE6A c.1705C>A/p.Q569K - PDE6A_000001 HGMD: CM994743; homozygous PubMed: Kuehlewein 2020 - - Unknown ? - - - - DNA ? - retrospective study retinal disease 38 PubMed: Kuehlewein 2020 - - - Germany - - - - - 1 LOVD
+?/. - c.1705C>A r.(?) p.(Gln569Lys) Parent #2 ACMG likely pathogenic g.149274769G>T g.149895206G>T PDE6A c.1705C>A/p.Q569K - PDE6A_000001 HGMD: CM994743; heterozygous PubMed: Kuehlewein 2020 - - Germline yes - - - - DNA ? - retrospective study retinal disease 6 PubMed: Kuehlewein 2020 - - - Germany - - - - - 1 LOVD
+?/. - c.1705C>A r.(?) p.(Gln569Lys) Parent #2 ACMG likely pathogenic g.149274769G>T g.149895206G>T PDE6A c.1705C>A/p.Q569K - PDE6A_000001 HGMD: CM994743; heterozygous PubMed: Kuehlewein 2020 - - Germline yes - - - - DNA ? - retrospective study retinal disease 46 PubMed: Kuehlewein 2020 - - - Germany - - - - - 1 LOVD
+/. 12 c.1705C>A r.(?) p.(Gln569Lys) Parent #2 - pathogenic g.149274769G>T - c.1705C>A - PDE6A_000001 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+/. 12 c.1705C>A r.(?) p.(Gln569Lys) Parent #2 - pathogenic g.149274769G>T - c.1705C>A - PDE6A_000001 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. 12 c.1705C>A r.(?) p.(Gln569Lys) Both (homozygous) - pathogenic g.149274769G>T - c.1705C>A - PDE6A_000001 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+/. 12 c.1705C>A r.(?) p.(Gln569Lys) Both (homozygous) - pathogenic g.149274769G>T - c.1705C>A - PDE6A_000001 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. 12 c.1705C>A r.(?) p.(Gln569Lys) Parent #2 - pathogenic g.149274769G>T - c.1705C>A - PDE6A_000001 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. - c.1705C>A r.(?) p.(Gln569Lys) Unknown ACMG pathogenic g.149274769G>T - - - PDE6A_000001 - Villafuerte-de la Cruz RA, et al., 2023. Submitted ClinVar-2356 rs139444207 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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