Variant #0000171883 (NC_000003.11:g.193335990G>A, OPA1(NM_015560.2):c.557-668G>A)
Individual ID |
00105701 |
Chromosome |
3 |
Allele |
Maternal (confirmed) |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Probably affects function |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.193335990G>A |
DNA change (hg38) |
g.193618201G>A |
Published as |
- |
ISCN |
- |
DB-ID |
OPA1_000282 See all 4 reported entries |
Variant remarks |
- |
Reference |
PubMed: Bonifert 2014 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Variant not found in online data sets |
Owner |
Tobias Bonifert |
Database submission license |
No license selected |
Created by |
Tobias Bonifert |

Variant on transcripts
Screenings
|
|