Annotation Detail
Information
- Associated Genes
- SERPINC1 SNORD81 SNORD79 SNORD80 SNORD47 SNORD44 GAS5 ZBTB37 SNORD74 SNORD75 SNORD76 SNORD77 SNORD78 GAS5-AS1 SNORA103 LOC126805922 LOC126805923 LOC129931940 LOC129931941
- Associated Variants
- NC_000001.11:g.173859535_173926473del AND Hereditary antithrombin deficiency
- Associated Disease
- Hereditary antithrombin deficiency
- Source Database
- ClinVar
- Description
- NC_000001.11:g.173859535_173926473del AND Hereditary antithrombin deficiency
- ClinVar Allele ID
- 1312169
- Clinical Significance Description
- Pathogenic
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001779973
- ClinVar Disease
- Hereditary antithrombin deficiency
- Observed Origin Sample
- germline
Drugs