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
Leigh syndrome
Source Database
ClinVar
Description
NC_012920.1(MT-TK):m.8363G>A AND Leigh syndrome
ClinVar Allele ID
24620
Clinical Significance Description
not provided
Clinical Significance Review Status
no assertion provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000144004
ClinVar Disease
Leigh syndrome
Observed Origin Sample
germline
Drugs