Annotation Detail
Information
- Associated Genes
- MT-ND5
- Associated Variants
-
NC_012920.1:m.13094T>C
NC_012920.1:m.13094T>C - Associated Disease
- Leber optic atrophy
- Source Database
- ClinVar
- Description
- NC_012920.1:m.13094T>C AND Leber optic atrophy
- ClinVar Allele ID
- 680406
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-05-04
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002249552
- ClinVar Disease
- Leber optic atrophy
- Observed Origin Sample
- germline
Drugs