Variant #0000081809 (NC_000001.10:g.68915592C>T, RPE65(NM_000329.2):c.-4G>A)

Individual ID 00052526
Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.68915592C>T
DNA change (hg38) g.68449909C>T
Published as IVS1(-4) G>A
ISCN -
DB-ID RPE65_000137
Variant remarks unknown variant 2ndchromosome
Reference PubMed: Dharmaraj 2000
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency 1/100 cases
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 ?/? 1 c.-4G>A r.(?) p.(?)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000052474 DNA PCR;SSCA - - RPE65 1 Muhammad Ajmal