Variant #0000406235 (NC_000003.11:g.193311196del, OPA1(NM_015560.2):c.30del)
Individual ID |
00181398 |
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.193311196del |
DNA change (hg38) |
g.193593407del |
Published as |
c.30delC |
ISCN |
- |
DB-ID |
OPA1_000462 |
Variant remarks |
- |
Reference |
Amati-Bonneau P, Angers 2010 (unpublished); Le Roux 2019, submitted |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline/De novo (untested) |
Segregation |
- |
Frequency |
- |
Re-site |
BstNI-, PspGI-, ScrFI-, SfiI-, StyD4I- |
VIP |
0 |
Methylation |
- |
Average frequency (large NGS studies) |
Variant not found in online data sets |
Owner |
Marc Ferre |

Variant on transcripts
Screenings
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