Variant #0000792186 (NC_000001.10:g.68910517C>T, RPE65(NM_000329.2):c.295G>A)
Individual ID |
00377906 |
Chromosome |
1 |
Allele |
Unknown |
Affects function (as reported) |
Does not affect function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
benign |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.68910517C>T |
DNA change (hg38) |
- |
Published as |
295G>A |
ISCN |
- |
DB-ID |
RPE65_000079 See all 9 reported entries |
Variant remarks |
- |
Reference |
PubMed: li 2011 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
4/87 cases; 0/96 controls |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.00025 View details |
Owner |
LOVD |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Julia Lopez |

Variant on transcripts
Screenings
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