Variant #0000406336 (NC_000003.11:g.193332669_193332673del, NM_015560.2:c.190_194del (OPA1))
Individual ID |
00181498 |
Chromosome |
3 |
Allele |
Parent #2 |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Probably affects function |
Classification method |
- |
Clinical classification |
likely pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.193332669_193332673del |
DNA change (hg38) |
g.193614880_193614884del |
Published as |
- |
ISCN |
- |
DB-ID |
OPA1_000459 See all 2 reported entries |
Variant remarks |
- |
Reference |
PubMed: Nasca 2017 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline/De novo (untested) |
Segregation |
- |
Frequency |
- |
Re-site |
EarI-,MboII- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Thomas Foulonneau |
Database submission license |
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International |
Created by |
Marc Ferre |
Date created |
2018-10-05 15:04:16 +02:00 (CEST) |
Date last edited |
2018-11-17 14:14:13 +01:00 (CET) |

Variant on transcripts
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