Variant #0000081875 (NC_000001.10:g.68915577C>A, RPE65(NM_000329.2):c.11+1G>T)

Individual ID 00052458
Chromosome 1
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.68915577C>A
DNA change (hg38) g.68449894C>A
Published as -
ISCN -
DB-ID RPE65_000135
Variant remarks -
Reference PubMed: Jacobson 2012
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
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+1G>T r.spl p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000052406 DNA ? - - RPE65 1 Muhammad Ajmal