Annotation Detail
Information
- Associated Genes
- HBB LOC106099062 LOC107133510
- Associated Variants
-
HBB c.-140C>T
(
ENST00000647020.1 )
HBB c.-140C>T ( ENST00000647020.1 ) - Associated Disease
- HBB-related disorder
- Source Database
- ClinVar
- Description
- NM_000518.5(HBB):c.-140C>T AND HBB-related disorder
- ClinVar Allele ID
- 30553
- ClinVar RefSeq Alternation Syntax
- NM_000518.5:c.-140C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-03-04
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002260510
- ClinVar Disease
- HBB-related disorder
- Observed Origin Sample
- unknown
Drugs