Variant #0000710360 (NC_000001.10:g.68914341del, RPE65(NM_000329.2):c.61del)

Individual ID 00325502
Chromosome 1
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.68914341del
DNA change (hg38) g.68448658del
Published as 61delG
ISCN -
DB-ID RPE65_000192 See all 2 reported entries
Variant remarks ACMG PVS1, PM2, PM3, PP2, PP4
Reference PubMed: Zenteno 2020
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/143 cases
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RPE65 NM_000329.2 +/. - c.61del r.(?) p.(Glu21Asnfs*10)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000326713 DNA SEQ;SEQ-NG - 199 gene panel RPE65 2 Johan den Dunnen