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
- Cardiomyopathy and Deafness
- Source Database
- ClinVar
- Description
- NC_012920.1(MT-TK):m.8363G>A AND Cardiomyopathy and Deafness
- ClinVar Allele ID
- 24620
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1996-05-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000010197
- ClinVar Disease
- Cardiomyopathy and Deafness
- Observed Origin Sample
- germline
- Pubmed
- 8651277
Drugs