Annotation Detail
Information
- Associated Genes
- MT-ND3
- Associated Variants
-
NC_012920.1(MT-ND3):m.10197G>A
NC_012920.1(MT-ND3):m.10197G>A - Associated Disease
- Leigh syndrome
- Source Database
- ClinVar
- Description
- NC_012920.1(MT-ND3):m.10197G>A AND Leigh syndrome
- ClinVar Allele ID
- 24754
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2019-10-17
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000144011
- ClinVar Disease
- Leigh syndrome
- Observed Origin Sample
- germline
- Observed Origin Sample
- de novo
Drugs