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
not provided
Source Database
ClinVar
Description
NC_012920.1(MT-TK):m.8344A>G AND not provided
ClinVar Allele ID
24618
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2019-12-01
Clinical Significance Review Status
criteria provided, multiple submitters, no conflicts
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000224965
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs