Variant #0000844640 (NC_000001.10:g.68903878del, NM_000329.2:c.1120del (RPE65))

Individual ID 00406585
Chromosome 1
Allele Paternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.68903878del
DNA change (hg38) g.68438195del
Published as RPE65 p.I374LfsX9 (c.1160delA)
ISCN -
DB-ID RPE65_000242 See all 3 reported entries
Variant remarks typing error in annotation: p.I374LfsX9 is caused by c.1120del and not c.1160del; heterozygous
Reference PubMed: Preising 2007
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation ?
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-04-01 15:23:22 +02:00 (CEST)
Date last edited 2025-03-14 11:52:03 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RPE65 NM_000329.2 +?/. - c.1120del r.(?) p.(Ile374LeufsTer10)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000407828 DNA SSCA;SEQ blood - RPE65 2 LOVD


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