Annotation Detail
Information
- Associated Genes
- MT-TK
- Associated Variants
-
m.8356T>C
m.8356T>C - Associated Disease
- MERRF syndrome
- Source Database
- ClinVar
- Description
- m.8356T>C AND MERRF syndrome
- ClinVar Allele ID
- 24619
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2010-10-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000010195
- ClinVar Disease
- MERRF syndrome
- Observed Origin Sample
- germline
- Observed Origin Sample
- maternal
- Pubmed
- 8069654
- Pubmed
- 1361099
- Pubmed
- 20610441
Drugs