Annotation Detail
Information
- Associated Genes
- HBB LOC106099062 LOC107133510
- Associated Variants
-
HBB c.-138C>T
(
ENST00000647020.1 )
HBB c.-138C>T ( ENST00000647020.1 ) - Associated Disease
- hemoglobinopathy
- Source Database
- ClinVar
- Description
- NM_000518.5(HBB):c.-138C>T AND Hemoglobinopathy
- ClinVar Allele ID
- 30499
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2018-11-08
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000781453
- ClinVar Disease
- Hemoglobinopathy
- Observed Origin Sample
- germline
Drugs