Variant #0000818939 (NC_000001.10:g.(?_68895454)_(68915593_?)del, RPE65(NM_000329.2):c.-54_*952{0})

Individual ID 00388476
Chromosome 1
Allele Paternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.(?_68895454)_(68915593_?)del
DNA change (hg38) -
Published as c.(?_-1)_(*1_?)del
ISCN -
DB-ID RPE65_000320
Variant remarks -
Reference PubMed: Ellingsford 2018
ClinVar ID -
dbSNP ID -
Origin Germline
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 Julia Lopez
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RPE65 NM_000329.2 +?/. _1_14_ c.-54_*952{0} r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000389717 DNA SEQ-NG - CNV gene panel next-generation sequencing RPE65 2 LOVD