Variant #0000812838 (NC_000001.10:g.68895518G>A, NM_000329.2:c.1543C>T (RPE65))
Individual ID |
00384500 |
Chromosome |
1 |
Allele |
Unknown |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
likely pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.68895518G>A |
DNA change (hg38) |
g.68429835G>A |
Published as |
c.1543C>T, p.(Arg515Trp) |
ISCN |
- |
DB-ID |
RPE65_000121 See all 30 reported entries |
Variant remarks |
compound heterozygous |
Reference |
PubMed: Wang 2019 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
yes |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
1.0E-5 View details |
Owner |
LOVD |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Anna Tracewska |
Date created |
2021-09-29 13:19:55 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
Screenings
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