Annotation Detail
Information
- Associated Genes
- HBB LOC106099062 LOC107133510
- Associated Variants
-
HBB c.-50A>C
(
ENST00000485743.1,
ENST00000647020.1 )
HBB c.-50A>C ( ENST00000485743.1, ENST00000647020.1 ) - Associated Disease
- beta thalassemia
- Source Database
- ClinVar
- Description
- NM_000518.5(HBB):c.-50A>C AND beta Thalassemia
- ClinVar Allele ID
- 44956
- ClinVar RefSeq Alternation Syntax
- NM_000518.5:c.-50A>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2017-02-08
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000029957
- ClinVar Disease
- beta Thalassemia
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs