Annotation Detail
Information
- Associated Genes
- HBB LOC106099062 LOC107133510
- Associated Variants
-
HBB c.-79A>G
(
ENST00000647020.1 )
HBB c.-79A>G ( ENST00000647020.1 ) - Associated Disease
- Inborn genetic diseases
- Source Database
- ClinVar
- Description
- NM_000518.5(HBB):c.-79A>G AND Inborn genetic diseases
- ClinVar Allele ID
- 30508
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2016-10-05
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002415420
- ClinVar Disease
- Inborn genetic diseases
- Observed Origin Sample
- germline
Drugs