Variant #0000823230 (NC_000001.10:g.68915573C>T, RPE65(NM_000329.2):c.11+5G>A)

Individual ID 00391553
Chromosome 1
Allele Both (homozygous)
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.68915573C>T
DNA change (hg38) g.68449890C>T
Published as RPE65 nucleotide 1, protein 1:c.11+5G>A, p.?
ISCN -
DB-ID RPE65_000058 See all 85 reported entries
Variant remarks homozygous, ACMG unclassified - no access to supplementary table 2
Reference PubMed: Hull 2020
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 8.0E-5 View details
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RPE65 NM_000329.2 ?/. - c.11+5G>A r.spl p.(?)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000392795 DNA ? blood NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families RPE65 1 LOVD