Annotation Detail
Information
- Associated Genes
- HBB LOC106099062 LOC107133510
- Associated Variants
-
HBB c.-78A>C
(
ENST00000647020.1 )
HBB c.-78A>C ( ENST00000647020.1 ) - Associated Disease
- Beta-plus-thalassemia
- Source Database
- ClinVar
- Description
- NM_000518.5(HBB):c.-78A>C AND Beta-plus-thalassemia
- ClinVar Allele ID
- 30509
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1982-06-10
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000016728
- ClinVar Disease
- Beta-plus-thalassemia
- Observed Origin Sample
- germline
- Pubmed
- 7076659
Drugs