Annotation Detail
Information
- Associated Genes
- MT-TK
- Associated Variants
-
NC_012920.1(MT-TK):m.8344A>G
NC_012920.1(MT-TK):m.8344A>G - Associated Disease
- Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
- Source Database
- ClinVar
- Description
- NC_012920.1(MT-TK):m.8344A>G AND Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
- ClinVar Allele ID
- 24618
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-05-04
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000850950
- ClinVar Disease
- Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
- Observed Origin Sample
- germline
Drugs