Variant #0000816111 (NC_000001.10:g.68903618_68915918del, RPE65(NM_000329.2):c.-330_1128+252del)

Individual ID 00386725
Chromosome 1
Allele Both (homozygous)
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.68903618_68915918del
DNA change (hg38) g.68437935_68450235del
Published as RPE65 chr1:68903619_68915919del
ISCN -
DB-ID RPE65_000318
Variant remarks start loss, range 11717-92433 bp in various techniques, homozygous
Reference PubMed: Zampaglione-2020
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RPE65 NM_000329.2 +?/. - c.-330_1128+252del r.spl p.(?)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000387953 DNA SEQ-NG-I;PCRq blood - RPE65 1 LOVD