Variant #0000684573 (NC_000001.10:g.68915579del, RPE65(NM_000329.2):c.10del)

Individual ID 00308555
Chromosome 1
Allele Parent #1
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.68915579del
DNA change (hg38) g.68449896del
Published as c.10delC
ISCN -
DB-ID RPE65_000205
Variant remarks -
Reference PubMed: Holtan 2020
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/899 cases
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner Global Variome, with Curator vacancy
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RPE65 NM_000329.2 +?/. - c.10del r.(?) p.(Gln4Argfs*27)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000309700 DNA SEQ - - RPE65 1 Global Variome, with Curator vacancy