Annotation Detail
Information
- Associated Genes
- MT-TK
- Associated Variants
-
NC_012920.1(MT-TK):m.8363G>A
NC_012920.1(MT-TK):m.8363G>A - Associated Disease
- Mitochondrial disease
- Source Database
- ClinVar
- Description
- NC_012920.1(MT-TK):m.8363G>A AND Mitochondrial disease
- ClinVar Allele ID
- 24620
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2023-03-13
- Clinical Significance Review Status
- reviewed by expert panel
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003162232
- ClinVar Disease
- Mitochondrial disease
- Observed Origin Sample
- germline
Drugs