Variant #0000844640 (NC_000001.10:g.68903878del, NM_000329.2:c.1120del (RPE65))
Individual ID |
00406585 |
Chromosome |
1 |
Allele |
Paternal (confirmed) |
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.68903878del |
DNA change (hg38) |
g.68438195del |
Published as |
RPE65 p.I374LfsX9 (c.1160delA) |
ISCN |
- |
DB-ID |
RPE65_000242 See all 3 reported entries |
Variant remarks |
typing error in annotation: p.I374LfsX9 is caused by c.1120del and not c.1160del; heterozygous |
Reference |
PubMed: Preising 2007 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Unknown |
Segregation |
? |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
LOVD |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Anna Tracewska |
Date created |
2022-04-01 15:23:22 +02:00 (CEST) |
Date last edited |
2025-03-14 11:52:03 +01:00 (CET) |

Variant on transcripts
Screenings
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