Variant #0000784552 (NC_000001.10:g.68910517C>T, RPE65(NM_000329.2):c.295G>A)
Individual ID |
00372648 |
Chromosome |
1 |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
VUS |
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 |
- |
Reference |
PubMed: Xu 2014 |
ClinVar ID |
- |
dbSNP ID |
rs143056561 |
Origin |
Germline |
Segregation |
- |
Frequency |
1/314 case chromosomes |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.00025 View details |
Owner |
LOVD |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |

Variant on transcripts
Screenings
|
|