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.

3 entries on 1 page. Showing entries 1 - 3.
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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.271_272insA r.(?) p.(Arg91GlnfsTer5) - likely pathogenic g.68910540_68910541insT g.68444857_68444858insT RPE65 p.R91TfsX5 (c.271insA) - RPE65_000333 typing error in annotation: p.I374LfsX9 is caused by c.1120del and not c.1160del; heterozygous PubMed: Preising 2007 - - Germline yes - - 0 - LOVD
+?/. - c.271_272insA r.(?) p.(Arg91GlnfsTer5) - likely pathogenic g.68910540_68910541insT g.68444857_68444858insT RPE65 p.R91TfsX5 (c.271insA) - RPE65_000333 error in annotation: should be c.271_272insA and not c.271insA, p.R91QfsX5 and not p.R91TfsX5, homozygous PubMed: Preising 2007 - - Germline yes - - 0 - LOVD
+?/. - c.271_272insA r.(?) p.(Arg91GlnfsTer5) - likely pathogenic g.68910540_68910541insT g.68444857_68444858insT RPE65 p.R91TfsX5 (c.271insA) - RPE65_000333 error in annotation: should be c.271_272insA and not c.271insA, homozygous PubMed: Preising 2007 - - Germline yes - - 0 - LOVD
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