Annotation Detail

Information
Associated Genes
MT-TK
Associated Variants
m.8356T>C
m.8356T>C
Associated Disease
Mitochondrial disease
Source Database
ClinVar
Description
m.8356T>C AND Mitochondrial disease
ClinVar Allele ID
24619
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/RCV003162231
ClinVar Disease
Mitochondrial disease
Observed Origin Sample
germline
Drugs