Annotation Detail
Information
- Associated Genes
- HBB LOC106099062 LOC107133510
- Associated Variants
-
HBB c.-136C>G
(
ENST00000647020.1 )
HBB c.-136C>G ( ENST00000647020.1 ) - Associated Disease
- beta thalassemia
- Source Database
- ClinVar
- Description
- NM_000518.4(HBB):c.-136C>G AND beta Thalassemia
- ClinVar Allele ID
- 30504
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2019-11-25
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000029948
- ClinVar Disease
- beta Thalassemia
- Observed Origin Sample
- germline
Drugs