Full data view for gene RPE65

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_000329.2 transcript reference sequence.

16 entries on 1 page. Showing entries 1 - 16.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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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.130C>T r.(?) p.(Arg44*) Both (homozygous) - pathogenic (recessive) g.68912508G>A g.68446825G>A R44X - RPE65_000229 - PubMed: Zhong 2019 - - Germline - - - - - DNA SEQ - - retinal disease Fam20357PatV1 PubMed: Zhong 2019 5-generation family, 1 affected, unaffected parents F yes China - - - - - 1 LOVD
+/. - c.130C>T r.(?) p.(Arg44*) Both (homozygous) - pathogenic (recessive) g.68912508G>A g.68446825G>A R44X - RPE65_000229 - PubMed: Zhong 2019 - - Germline - - - - - DNA SEQ - - retinal disease Fam20455PatII1 PubMed: Zhong 2019 2-generation family, 1 affected, unaffected parents F no China - - - - - 1 LOVD
+/. - c.130C>T r.(?) p.(Arg44*) Parent #2 - pathogenic (recessive) g.68912508G>A g.68446825G>A R44X - RPE65_000229 - PubMed: Zhong 2019 - - Germline - - - - - DNA SEQ - - retinal disease Fam20511PatII1 PubMed: Zhong 2019 2-generation family, 1 affected, unaffected parents M no China - - - - - 1 LOVD
+/. - c.130C>T r.(?) p.(Arg44*) Parent #2 - pathogenic (recessive) g.68912508G>A - - - RPE65_000229 - PubMed: Zhong 2019 - - Germline - - - - - DNA SEQ - - retinal disease Fam20289PatII1 PubMed: Zhong 2019 2-generation family, 1 affected, unaffected parents M no China - - - - - 1 LOVD
+/. - c.130C>T r.(?) p.(Arg44*) Parent #1 - pathogenic (recessive) g.68912508G>A g.68446825G>A - - RPE65_000229 - PubMed: Chung 2019 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Chung 2019 study natural history disease; individual possibly reported before - - - - - - - - 1 LOVD
+/. - c.130C>T r.(?) p.(Arg44*) Parent #1 - pathogenic (recessive) g.68912508G>A g.68446825G>A - - RPE65_000229 - PubMed: Chung 2019 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Chung 2019 study natural history disease; individual possibly reported before - - - - - - - - 1 LOVD
+/. - c.130C>T r.(?) p.(Arg44*) Parent #1 - pathogenic (recessive) g.68912508G>A g.68446825G>A - - RPE65_000229 - PubMed: Chung 2019 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Chung 2019 study natural history disease; individual possibly reported before - - - - - - - - 1 LOVD
+/. - c.130C>T r.(?) p.(Arg44*) Parent #2 - pathogenic (recessive) g.68912508G>A g.68446825G>A - - RPE65_000229 - PubMed: Chung 2019 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Chung 2019 study natural history disease; individual possibly reported before - - - - - - - - 1 LOVD
+/. - c.130C>T r.(?) p.(Arg44*) Parent #2 - pathogenic (recessive) g.68912508G>A g.68446825G>A - - RPE65_000229 - PubMed: Chung 2019 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Chung 2019 study natural history disease; individual possibly reported before - - - - - - - - 1 LOVD
+?/. - c.130C>T r.(?) p.(Arg44*) Paternal (confirmed) - likely pathogenic (recessive) g.68912508G>A g.68446825G>A - - RPE65_000229 - PubMed: Thompson 2017 - - Germline - - - - - DNA SEQ - - retinal disease Fam1404 PubMed: Thompson 2017 - - - Australia - - - - - 1 LOVD
+?/. - c.130C>T r.(?) p.(Arg44*) Unknown ACMG likely pathogenic g.68912508G>A g.68446825G>A RPE65 c.130C>T, p.(Arg44*), BBS1 c.1169T>G, p.(Met390Arg) - RPE65_000229 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 462 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+/. - c.130C>T r.(?) p.(Arg44*) Parent #1 ACMG pathogenic g.68912508G>A g.68446825G>A RPE65 NM_000329: g.3135C>T, c.130C>T, p.R44X - RPE65_000229 - PubMed: Xu 2020 - - Germline yes - - - - DNA SEQ-NG - targeted next-generation sequencing retinal disease 19320 PubMed: Xu 2020 - ? no China - - - - - 1 LOVD
+?/. - c.130C>T r.(?) p.(Arg44*) Parent #1 - likely pathogenic g.68912508G>A g.68446825G>A RPE65, variant 1: c.130C>T/p.R44*, variant 2: c.1102T>C/p.Y368H - RPE65_000229 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET3 targeted sequencing panel - see paper retinal disease 102 PubMed: Weisschuh 2020 Filing key number: 48, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.130C>T r.(?) p.(Arg44*) Parent #1 - likely pathogenic g.68912508G>A g.68446825G>A RPE65, variant 1: c.11+5G>A/p.?, variant 2: c.130C>T/p.R44* - RPE65_000229 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 340 PubMed: Weisschuh 2020 Filing key number: 113, Leber congenital amaurosis, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+/. - c.130C>T r.(?) p.(Arg44*) Unknown ACMG pathogenic g.68912508G>A g.68446825G>A RPE65 c.130C>T, p.Arg44* - RPE65_000229 compound heterozygous, probably causal PubMed: Zhu 2022 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ saliva panel-based next generation sequencing retinal disease 28_32 PubMed: Zhu 2022 family 28, individual 32 M - - - - - - - 1 LOVD
+/. - c.130C>T r.(?) p.(Arg44*) Unknown ACMG pathogenic g.68912508G>A g.68446825G>A RPE65 c.130C>T, p.Arg44* - RPE65_000229 compound heterozygous, probably causal PubMed: Zhu 2022 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ saliva panel-based next generation sequencing retinal disease 28_33 PubMed: Zhu 2022 family 28, individual 33 M - - - - - - - 1 LOVD
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