Variant #0000081877 (NC_000001.10:g.68915573C>T, RPE65(NM_000329.2):c.11+5G>A)

Individual ID 00052420
Chromosome 1
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
Classification method -
Clinical classification likely pathogenic (recessive)
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 PubMed: Ripamonti 2014
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency 2/18 chromosomes
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 8.0E-5 View details
Owner Muhammad Ajmal
Database submission license No license selected
Created by Muhammad Ajmal
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     
0000052368 DNA ? - - RPE65 2 Muhammad Ajmal