Variant #0000171517 (NC_000003.11:g.193335018C>T, OPA1(NM_015560.2):c.500C>T)
Individual ID |
00105468 |
Chromosome |
3 |
Allele |
Unknown |
Affects function (as reported) |
Does not affect function |
Affects function (by curator) |
Probably does not affect function |
Classification method |
- |
Clinical classification |
benign |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.193335018C>T |
DNA change (hg38) |
g.193617229C>T |
Published as |
- |
ISCN |
- |
DB-ID |
OPA1_000045 |
Variant remarks |
eOPA1 identifier (obsolete):OA_00048; Nucleotide change: C to G at 500 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature |
Reference |
PubMed: Thiselton 2002 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
1.0E-5 View details |
Owner |
Marc Ferre |
Database submission license |
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International |
Created by |
Marc Ferre |

Variant on transcripts
Screenings
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