Variant #0000171850 (NC_000003.11:g.(193311199_193332511)_(193333560_193334966)del, NC_000003.11(NM_015560.2):c.(32+1_33-1)_(448+1_449-1)del (OPA1))
Individual ID |
00105801 |
Chromosome |
3 |
Allele |
Unknown |
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.(193311199_193332511)_(193333560_193334966)del |
DNA change (hg38) |
- |
Published as |
33-?_448+?del |
ISCN |
- |
DB-ID |
OPA1_000349 |
Variant remarks |
- |
Reference |
Mavrogiannis LA, Charlton RS (unpublished) |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Lampros Mavrogiannis |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Lampros Mavrogiannis |
Date created |
2015-05-09 20:19:35 +02:00 (CEST) |
Date last edited |
2018-11-17 14:14:13 +01:00 (CET) |

Variant on transcripts
Screenings
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