Annotation Detail
Information
- Associated Genes
- HBB LOC106099062 LOC107133510
- Associated Variants
-
HBB p.Gln40Ter (p.Q40*)
(
ENST00000485743.1,
ENST00000335295.4,
ENST00000647020.1 )
HBB p.Gln40Ter (p.Q40*) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 ) - Associated Disease
- beta thalassemia
- Source Database
- ClinVar
- Description
- NM_000518.5(HBB):c.118C>T (p.Gln40Ter) AND beta Thalassemia
- ClinVar Allele ID
- 30441
- ClinVar RefSeq Alternation Syntax
- NM_000518.5:c.118C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2024-03-20
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000379715
- ClinVar Disease
- beta Thalassemia
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Observed Origin Sample
- maternal
Drugs