Variant #0000171831 (NC_000003.11:g.193311169G>T, OPA1(NM_015560.2):c.3G>T)
Individual ID |
00105782 |
Chromosome |
3 |
Allele |
Unknown |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Effect unknown |
Classification method |
- |
Clinical classification |
likely pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.193311169G>T |
DNA change (hg38) |
g.193593380G>T |
Published as |
- |
ISCN |
- |
DB-ID |
OPA1_000328 |
Variant remarks |
Mutation in start codon of gene OPA1 |
Reference |
Mavrogiannis LA, Charlton RS (unpublished) |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (large NGS studies) |
Variant not found in online data sets |
Owner |
Lampros Mavrogiannis |

Variant on transcripts
Screenings
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