Variant #0000406296 (NC_000003.11:g.193332550_193332552delinsAG, OPA1(NM_015560.2):c.71_73delinsAG)
Individual ID |
00181459 |
Chromosome |
3 |
Allele |
Parent #1 |
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.193332550_193332552delinsAG |
DNA change (hg38) |
g.193614761_193614763delinsAG |
Published as |
- |
ISCN |
- |
DB-ID |
OPA1_000466 |
Variant remarks |
- |
Reference |
PubMed: Chen 2014 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline/De novo (untested) |
Segregation |
- |
Frequency |
- |
Re-site |
HpyAV+ |
VIP |
0 |
Methylation |
- |
Average frequency (large NGS studies) |
Variant not found in online data sets |
Owner |
Thomas Foulonneau |

Variant on transcripts
Screenings
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