Variant #0000082261 (NC_000001.10:g.68910517C>T, RPE65(NM_000329.2):c.295G>A)

Individual ID 00052467
Chromosome 1
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.68910517C>T
DNA change (hg38) g.68444834C>T
Published as -
ISCN -
DB-ID RPE65_000079 See all 9 reported entries
Variant remarks unknown variant 2ndchromosome; not in 96 controls
Reference PubMed: Li 2011
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 4/87 cases
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00025 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 -/- 4 c.295G>A r.(?) p.(Val99Ile)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000052415 DNA PCR;SEQ - - RPE65 1 Muhammad Ajmal