Annotation Detail
Information
- Associated Genes
- MT-CO3
- Associated Variants
-
NC_012920.1(MT-CO3):m.9438G>A
NC_012920.1(MT-CO3):m.9438G>A - Associated Disease
- Leber optic atrophy
- Source Database
- ClinVar
- Description
- NC_012920.1(MT-CO3):m.9438G>A AND Leber optic atrophy
- ClinVar Allele ID
- 24690
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1995-10-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000010286
- ClinVar Disease
- Leber optic atrophy
- Observed Origin Sample
- germline
- Pubmed
- 7573056
- Pubmed
- 7804416
- Pubmed
- 8240356
Drugs