Variant #0000791259 (NC_000001.10:g.68915573C>T, RPE65(NM_000329.2):c.11+5G>A)

Individual ID 00377261
Chromosome 1
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.68915573C>T
DNA change (hg38) g.68449890C>T
Published as -
ISCN -
DB-ID RPE65_000058 See all 85 reported entries
Variant remarks -
Reference Tracewska 2021, MolVis in press
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency 0,0002 (in-house database, ~5000 samples)
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RPE65 NM_000329.2 +?/. 1i c.11+5G>A r.spl p.(?)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000378466 DNA SEQ-NG-I;SEQ blood targeted resequencing using MIPs library prep; 108-gene panel RPE65 2 LOVD