Annotation Detail
Information
- Associated Genes
- MT-ND3
- Associated Variants
-
NC_012920.1(MT-ND3):m.10134C>A
NC_012920.1(MT-ND3):m.10134C>A - Associated Disease
- Leigh syndrome
- Source Database
- ClinVar
- Description
- NC_012920.1(MT-ND3):m.10134C>A AND Leigh syndrome
- ClinVar Allele ID
- 166157
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2014-05-15
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000144458
- ClinVar Disease
- Leigh syndrome
- Observed Origin Sample
- maternal
Drugs