Annotation Detail
Information
- Associated Genes
- MT-ND5
- Associated Variants
-
NC_012920.1:m.13094T>C
NC_012920.1:m.13094T>C - Associated Disease
- Mitochondrial disease
- Source Database
- ClinVar
- Description
- NC_012920.1:m.13094T>C AND Mitochondrial disease
- ClinVar Allele ID
- 680406
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-07-25
- Clinical Significance Review Status
- reviewed by expert panel
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002291219
- ClinVar Disease
- Mitochondrial disease
- Observed Origin Sample
- germline
Drugs