Annotation Detail
Information
- Associated Genes
- MT-ND3
- Associated Variants
-
NC_012920.1(MT-ND3):m.10191T>C
NC_012920.1(MT-ND3):m.10191T>C - Associated Disease
- Mitochondrial complex 1 deficiency, mitochondrial type 1
- Source Database
- ClinVar
- Description
- NC_012920.1(MT-ND3):m.10191T>C AND Mitochondrial complex 1 deficiency, mitochondrial type 1
- ClinVar Allele ID
- 24751
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2004-01-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000010358
- ClinVar Disease
- Mitochondrial complex 1 deficiency, mitochondrial type 1
- Observed Origin Sample
- germline
- Pubmed
- 11456298
- Pubmed
- 14705112
Drugs