Annotation Detail
Information
- Associated Genes
- HBB LOC107133510 LOC110006319
- Associated Variants
-
HBB c.316-2A>C
(
ENST00000335295.4,
ENST00000647020.1 )
HBB c.316-2A>C ( ENST00000335295.4, ENST00000647020.1 ) - Associated Disease
- beta-thalassemia major
- Source Database
- ClinVar
- Description
- NM_000518.5(HBB):c.316-2A>C AND Beta-thalassemia major
- ClinVar Allele ID
- 34042
- ClinVar RefSeq Alternation Syntax
- NM_000518.5:c.316-2A>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-03-10
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001290616
- ClinVar Disease
- Beta-thalassemia major
- Observed Origin Sample
- germline
Drugs