Variant #0000597360 (NC_000003.11:g.193332688T>A, NM_015560.2:c.209T>A (OPA1))
Individual ID |
00265520 |
Chromosome |
3 |
Allele |
Parent #1 |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.193332688T>A |
DNA change (hg38) |
g.193614899T>A |
Published as |
- |
ISCN |
- |
DB-ID |
OPA1_000566 |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline/De novo (untested) |
Segregation |
? |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Marc Ferre |
Database submission license |
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International |
Created by |
Marc Ferre |
Date created |
2019-09-26 14:00:21 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
Screenings
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