Variant #0000818457 (NC_000001.10:g.68903938dup, NM_000329.2:c.1067dup (RPE65))

Individual ID 00388174
Chromosome 1
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.68903938dup
DNA change (hg38) g.68438255dup
Published as c.1067dup:p.(Asp356Lysfs*9)
ISCN -
DB-ID RPE65_000044 See all 17 reported entries
Variant remarks error in annotation: 1067dup causes p.(Asn356Lysfs*9) and not p.(Asp356Lysfs*9), compound heterozygous
Reference PubMed: Surl 2020
ClinVar ID -
dbSNP ID -
Origin Germline
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 2021-11-02 11:59:44 +01:00 (CET)
Date last edited 2025-03-11 06:24:49 +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.1067dup r.(?) p.(Asn356Lysfs*9)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000389413 DNA SEQ-NG blood targeted panel-based next-generation sequencing, including deep intronic and regulatory variants or whole exome sequencing RPE65 2 LOVD


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