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.

22 entries on 1 page. Showing entries 1 - 22.
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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     
+/+ 4 c.304G>T r.(?) p.(Glu102*) - pathogenic (recessive) g.68910508C>A g.68444825C>A - - RPE65_000032 - PubMed: Pasadhika 2010 - - Germline yes - ApoI- 0 - Muhammad Ajmal
+/+ 4 c.304G>T r.(?) p.(Glu102*) - pathogenic (recessive) g.68910508C>A g.68444825C>A - - RPE65_000032 - PubMed: Galvin 2005 - - Germline yes 1/110 cases ApoI- 0 - Muhammad Ajmal
+/+ 4 c.304G>T r.(?) p.(Glu102*) - pathogenic (recessive) g.68910508C>A g.68444825C>A - - RPE65_000032 - PubMed: Silva 2004 - - Germline yes - ApoI- 0 - Muhammad Ajmal
+/+ 4 c.304G>T r.(?) p.(Glu102*) - pathogenic (recessive) g.68910508C>A g.68444825C>A - - RPE65_000032 - PubMed: Silva 2004 - - Germline yes - ApoI- 0 - Muhammad Ajmal
+/+ 4 c.304G>T r.(?) p.(Glu102*) - pathogenic (recessive) g.68910508C>A g.68444825C>A - - RPE65_000032 - PubMed: Dharmaraj 2000 - - Germline yes 1/100 cases ApoI- 0 - Muhammad Ajmal
+/+ 4 c.304G>T r.(?) p.(Glu102*) - pathogenic (recessive) g.68910508C>A g.68444825C>A - - RPE65_000032 - PubMed: Zernant 2005 - - Germline yes - ApoI- 0 - Muhammad Ajmal
+/+ 4 c.304G>T r.(?) p.(Glu102*) - pathogenic (recessive) g.68910508C>A g.68444825C>A - - RPE65_000032 - PubMed: Zernant 2005 - - Germline yes - ApoI- 0 - Muhammad Ajmal
+?/+? 4 c.304G>T r.(?) p.(Glu102*) - likely pathogenic (recessive) g.68910508C>A g.68444825C>A 358G->T - RPE65_000032 - PubMed: Thompson 2000 - - Germline yes - ApoI- 0 - Muhammad Ajmal
+?/+? 4 c.304G>T r.(?) p.(Glu102*) - likely pathogenic (recessive) g.68910508C>A g.68444825C>A 358G->T - RPE65_000032 - PubMed: Thompson 2000 - - Germline yes - ApoI- 0 - Muhammad Ajmal
+/+ 4 c.304G>T r.(?) p.(Glu102*) - pathogenic (recessive) g.68910508C>A g.68444825C>A 358G->T - RPE65_000032 - PubMed: Thompson 2000 - - Germline yes - ApoI- 0 - Muhammad Ajmal
+/+ 4 c.304G>T r.(?) p.(Glu102*) - pathogenic (recessive) g.68910508C>A g.68444825C>A - - RPE65_000032 not in 200 controls PubMed: Zernant 2005 - - Germline yes - ApoI- 0 - Muhammad Ajmal
+/+ 4 c.304G>T r.(?) p.(Glu102*) - pathogenic (recessive) g.68910508C>A g.68444825C>A - - RPE65_000032 not in 200 controls PubMed: Zernant 2005 - - Germline yes - ApoI- 0 - Muhammad Ajmal
+/+ 4 c.304G>T r.(?) p.(Glu102*) - pathogenic (recessive) g.68910508C>A g.68444825C>A - - RPE65_000032 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - ApoI- 0 - Muhammad Ajmal
+/. - c.304G>T r.(?) p.(Glu102*) - pathogenic (recessive) g.68910508C>A g.68444825C>A - - RPE65_000032 - PubMed: Chung 2019 - - Germline - - - 0 - LOVD
+/. - c.304G>T r.(?) p.(Glu102*) - pathogenic (recessive) g.68910508C>A g.68444825C>A - - RPE65_000032 - PubMed: Chung 2019 - - Germline - - - 0 - LOVD
+/. - c.304G>T r.(?) p.(Glu102*) - pathogenic (recessive) g.68910508C>A g.68444825C>A - - RPE65_000032 - PubMed: Chung 2019 - - Germline - - - 0 - LOVD
+/. - c.304G>T r.(?) p.(Glu102*) - pathogenic (recessive) g.68910508C>A g.68444825C>A - - RPE65_000032 - PubMed: Chung 2019 - - Germline - - - 0 - LOVD
+?/. - c.304G>T r.(?) p.(Glu102*) - likely pathogenic g.68910508C>A g.68444825C>A - - RPE65_000032 - PubMed: Ellingford 2016 - - Germline - - - 0 - LOVD
+?/. 4 c.304G>T r.(?) p.(Glu102*) ACMG likely pathogenic g.68910508C>A g.68444825C>A - - RPE65_000032 - Tracewska 2021, MolVis in press - - Germline yes 0,00041 (in-house database, ~5000 samples) - 0 - LOVD
+?/. 4 c.304G>T r.(?) p.(Glu102*) - likely pathogenic g.68910508C>A - c.304G>T (p.Glu102*) - RPE65_000032 - PubMed: SkorczykWerner-2020 - - Germline - - - 0 - LOVD
+?/. - c.304G>T r.(?) p.(Glu102Ter) - likely pathogenic g.68910508C>A g.68444825C>A RPE65 p.E102X (c.304G>T) - RPE65_000032 homozygous PubMed: Preising 2007 - - Germline yes - - 0 - LOVD
+/. - c.304G>T r.(?) p.(Glu102*) - pathogenic g.68910508C>A g.68444825C>A RPE65 c.304G>T, p.Glu102X - RPE65_000032 homozygous PubMed: Scholl 2015 - - Unknown ? - - 0 - LOVD
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