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.

29 entries on 1 page. Showing entries 1 - 29.
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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.292_311del r.(?) p.(Ile98Hisfs*26) - pathogenic (recessive) g.68910503_68910522del g.68444820_68444839del 97del20bp - RPE65_000028 DNA change not mentioned PubMed: Jacobson 2012 - - Germline yes - ApoI-;MluCI- 0 - Muhammad Ajmal
+/+ 4 c.292_311del r.(?) p.(Ile98Hisfs*26) - pathogenic (recessive) g.68910503_68910522del g.68444820_68444839del 20 bp deletion in exon 4 nt 344 to 363 - RPE65_000028 - PubMed: Poehner 2000 - - Germline yes - ApoI-;MluCI- 0 - Muhammad Ajmal
+/+ 4 c.292_311del r.(?) p.(Ile98Hisfs*26) - pathogenic (recessive) g.68910503_68910522del g.68444820_68444839del 20 bp deletion in exon 4 nt 344 to 363 - RPE65_000028 - PubMed: Poehner 2000 - - Germline yes - ApoI-;MluCI- 0 - Muhammad Ajmal
+/+ 4 c.292_311del r.(?) p.(Ile98Hisfs*26) - pathogenic (recessive) g.68910503_68910522del g.68444820_68444839del 20 bp deletion in exon 4 nt 344 to 363 - RPE65_000028 - PubMed: Poehner 2000 - - Germline yes - ApoI-;MluCI- 0 - Muhammad Ajmal
+/+ 4 c.292_311del r.(?) p.(Ile98Hisfs*26) - pathogenic (recessive) g.68910503_68910522del g.68444820_68444839del 97del20bp - RPE65_000028 - PubMed: Jacobson 2008 - - Germline - - ApoI- 0 - Muhammad Ajmal
+/+ 4 c.292_311del r.(?) p.(Ile98Hisfs*26) - pathogenic (recessive) g.68910503_68910522del g.68444820_68444839del - - RPE65_000028 - PubMed: Simovich 2001 - - Germline yes - ApoI-;MluCI- 0 - Muhammad Ajmal
+/+ 4 c.292_311del r.(?) p.(Ile98Hisfs*26) - pathogenic (recessive) g.68910503_68910522del g.68444820_68444839del 344del20 - RPE65_000028 - PubMed: Thompson 2000 - - Germline yes - ApoI-;MluCI- 0 - Muhammad Ajmal
+/+ 4 c.292_311del r.(?) p.(Ile98Hisfs*26) - pathogenic (recessive) g.68910503_68910522del g.68444820_68444839del Arg97 del20, aGGATCGTCATAACAGAATTT - RPE65_000028 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - ApoI- 0 - Muhammad Ajmal
+/+ 4 c.292_311del r.(?) p.(Ile98Hisfs*26) - pathogenic (recessive) g.68910503_68910522del g.68444820_68444839del Arg97 del20, aGGATCGTCATAACAGAATTT - RPE65_000028 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - ApoI- 0 - Muhammad Ajmal
+/+ 4 c.292_311del r.(?) p.(Ile98Hisfs*26) - pathogenic (recessive) g.68910503_68910522del g.68444820_68444839del Arg97 del20, aGGATCGTCATAACAGAATTT - RPE65_000028 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - ApoI- 0 - Muhammad Ajmal
+/+ 4 c.292_311del r.(?) p.(Ile98Hisfs*26) - pathogenic (recessive) g.68910503_68910522del g.68444820_68444839del Arg97 del20, aGGATCGTCATAACAGAATTT - RPE65_000028 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - ApoI- 0 - Muhammad Ajmal
+/+ 4 c.292_311del r.(?) p.(Ile98Hisfs*26) - pathogenic (recessive) g.68910503_68910522del g.68444820_68444839del - - RPE65_000028 - PubMed: Jacobson 2007 - - Germline - - ApoI- 0 - Muhammad Ajmal
+?/. - c.292_311del r.(?) p.(Ile98Hisfs*26) - likely pathogenic (recessive) g.68910503_68910522del g.68444820_68444839del - - RPE65_000028 - - 000803386 - Germline yes - - 0 - Bailey Glen
+?/. - c.292_311del r.(?) p.(Ile98Hisfs*26) - likely pathogenic (recessive) g.68910503_68910522del g.68444820_68444839del - - RPE65_000028 - - 000803386 - Germline yes - - 0 - Bailey Glen
+?/. - c.292_311del r.(?) p.(Ile98Hisfs*26) - likely pathogenic (recessive) g.68910503_68910522del g.68444820_68444839del - - RPE65_000028 - - 000803386 - Germline yes - - - - Bailey Glen
+?/. - c.292_311del r.(?) p.(Ile98Hisfs*26) - likely pathogenic (recessive) g.68910503_68910522del g.68444820_68444839del - - RPE65_000028 - - 000803386 - Germline yes - - - - Bailey Glen
+/. - c.292_311del r.(?) p.(Ile98Hisfs*26) - pathogenic (recessive) g.68910503_68910522del g.68444820_68444839del - - RPE65_000028 - - 000803386 - Germline yes - - - - Bailey Glen
+?/. - c.292_311del r.(?) p.(Ile98Hisfs*26) - likely pathogenic (recessive) g.68910503_68910522del g.68444820_68444839del - - RPE65_000028 - - 000803386 - Germline yes - - - - Bailey Glen
+?/. - c.292_311del r.(?) p.(Ile98Hisfs*26) - likely pathogenic (recessive) g.68910503_68910522del g.68444820_68444839del - - RPE65_000028 - - 000803386 - Germline yes - - - - Bailey Glen
+?/. - c.292_311del r.(?) p.(Ile98Hisfs*26) - likely pathogenic (recessive) g.68910503_68910522del g.68444820_68444839del - - RPE65_000028 - - 000803386 - Germline yes - - - - Bailey Glen
+?/. - c.292_311del r.(?) p.(Ile98Hisfs*26) - likely pathogenic (recessive) g.68910503_68910522del g.68444820_68444839del - - RPE65_000028 - - 000803386 - Germline yes - - - - Bailey Glen
+?/. - c.292_311del r.(?) p.(Ile98Hisfs*26) - likely pathogenic (recessive) g.68910503_68910522del g.68444820_68444839del - - RPE65_000028 - - 000803386 - Germline yes - - - - Bailey Glen
+?/. - c.292_311del r.(?) p.(Ile98Hisfs*26) - likely pathogenic (recessive) g.68910503_68910522del g.68444820_68444839del - - RPE65_000028 - - 000803386 - Germline yes - - - - Bailey Glen
+?/. - c.292_311del r.(?) p.(Ile98Hisfs*26) - likely pathogenic (recessive) g.68910503_68910522del g.68444820_68444839del - - RPE65_000028 - - 000803386 - Germline yes - - - - Bailey Glen
+?/. - c.292_311del r.(?) p.(Ile98Hisfs*26) - likely pathogenic (recessive) g.68910503_68910522del g.68444820_68444839del - - RPE65_000028 - - 000803386 - Germline yes - - - - Bailey Glen
+?/. - c.292_311del r.(?) p.(Ile98Hisfs*26) - likely pathogenic (recessive) g.68910503_68910522del g.68444820_68444839del - - RPE65_000028 - - 000803386 - Germline yes - - - - Bailey Glen
+?/. - c.292_311del r.(?) p.(Ile98Hisfs*26) - likely pathogenic (recessive) g.68910503_68910522del g.68444820_68444839del - - RPE65_000028 - - 000803386 - Germline yes - - - - Bailey Glen
+?/. - c.292_311del r.(?) p.(Ile98HisfsTer26) - likely pathogenic g.68910503_68910522del g.68444820_68444839del - - RPE65_000028 - PubMed: Riera 2017 - - Germline yes - - 0 - LOVD
+/. - c.292_311del r.(?) p.(Ile98Hisfs*26) ACMG pathogenic g.68910503_68910522del g.68444820_68444839del RPE65 c.292_311deI p.IIe98HisfsTer26 - RPE65_000028 heterozygous PubMed: Sallum 2020 - - Unknown ? - - 0 - LOVD
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