Annotation Detail
Information
- Associated Genes
- HBB LOC107133510 LOC110006319
- Associated Variants
-
HBB c.316-106C>G
(
ENST00000647020.1,
ENST00000335295.4 )
HBB c.316-106C>G ( ENST00000335295.4, ENST00000647020.1 ) - Associated Disease
- Dominant beta-thalassemia
- Source Database
- ClinVar
- Description
- NM_000518.5(HBB):c.316-106C>G AND Dominant beta-thalassemia
- ClinVar Allele ID
- 30496
- ClinVar RefSeq Alternation Syntax
- NM_000518.5:c.316-106C>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2020-02-21
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002272021
- ClinVar Disease
- Dominant beta-thalassemia
- Observed Origin Sample
- germline
Drugs