All variants in the RPE65 gene

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.

14 entries on 1 page. Showing entries 1 - 14.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
+/. - c.130C>T r.(?) p.(Arg44*) - pathogenic (recessive) g.68912508G>A g.68446825G>A R44X - RPE65_000229 - PubMed: Zhong 2019 - - Germline - - - 0 - LOVD
+/. - c.130C>T r.(?) p.(Arg44*) - pathogenic (recessive) g.68912508G>A g.68446825G>A R44X - RPE65_000229 - PubMed: Zhong 2019 - - Germline - - - 0 - LOVD
+/. - c.130C>T r.(?) p.(Arg44*) - pathogenic (recessive) g.68912508G>A g.68446825G>A R44X - RPE65_000229 - PubMed: Zhong 2019 - - Germline - - - 0 - LOVD
+/. - c.130C>T r.(?) p.(Arg44*) - pathogenic (recessive) g.68912508G>A - - - RPE65_000229 - PubMed: Zhong 2019 - - Germline - - - 0 - Johan den Dunnen
+/. - c.130C>T r.(?) p.(Arg44*) - pathogenic (recessive) g.68912508G>A g.68446825G>A - - RPE65_000229 - PubMed: Chung 2019 - - Germline - - - 0 - LOVD
+/. - c.130C>T r.(?) p.(Arg44*) - pathogenic (recessive) g.68912508G>A g.68446825G>A - - RPE65_000229 - PubMed: Chung 2019 - - Germline - - - 0 - LOVD
+/. - c.130C>T r.(?) p.(Arg44*) - pathogenic (recessive) g.68912508G>A g.68446825G>A - - RPE65_000229 - PubMed: Chung 2019 - - Germline - - - 0 - LOVD
+/. - c.130C>T r.(?) p.(Arg44*) - pathogenic (recessive) g.68912508G>A g.68446825G>A - - RPE65_000229 - PubMed: Chung 2019 - - Germline - - - 0 - LOVD
+/. - c.130C>T r.(?) p.(Arg44*) - pathogenic (recessive) g.68912508G>A g.68446825G>A - - RPE65_000229 - PubMed: Chung 2019 - - Germline - - - 0 - LOVD
+?/. - c.130C>T r.(?) p.(Arg44*) - likely pathogenic (recessive) g.68912508G>A g.68446825G>A - - RPE65_000229 - PubMed: Thompson 2017 - - Germline - - - 0 - LOVD
+?/. - c.130C>T r.(?) p.(Arg44*) 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 ? - - 0 - LOVD
+/. - c.130C>T r.(?) p.(Arg44*) 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 - - 0 - LOVD
+?/. - c.130C>T r.(?) p.(Arg44*) - 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 ? - - 0 - LOVD
+?/. - c.130C>T r.(?) p.(Arg44*) - 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 ? - - 0 - LOVD
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