Annotation Detail
Information
- Associated Genes
- MT-TK
- Associated Variants
-
m.8361G>A
m.8361G>A - Associated Disease
- MERRF syndrome
- Source Database
- ClinVar
- Description
- m.8361G>A AND MERRF syndrome
- ClinVar Allele ID
- 24624
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2003-12-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000010202
- ClinVar Disease
- MERRF syndrome
- Observed Origin Sample
- germline
- Observed Origin Sample
- maternal
- Pubmed
- 14681892
Drugs