Annotation Detail
Information
- Associated Genes
- HBB LOC106099062 LOC107133510
- Associated Variants
-
HBB c.-78A>G
(
ENST00000647020.1 )
HBB c.-78A>G ( ENST00000647020.1 ) - Associated Disease
- beta thalassemia
- Source Database
- ClinVar
- Description
- NM_000518.5(HBB):c.-78A>G AND beta Thalassemia
- ClinVar Allele ID
- 30510
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2019-12-09
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000029960
- ClinVar Disease
- beta Thalassemia
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs