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
- Leber optic atrophy and dystonia
- Source Database
- ClinVar
- Description
- NC_012920.1(MT-ND3):m.10197G>A AND Leber optic atrophy and dystonia
- ClinVar Allele ID
- 24754
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2009-10-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000010363
- ClinVar Disease
- Leber optic atrophy and dystonia
- Observed Origin Sample
- germline
- Pubmed
- 17413873
- Pubmed
- 17152068
- Pubmed
- 19458970
Drugs