Annotation Detail
Information
- Associated Genes
- HBB LOC107133510 LOC110006319
- Associated Variants
-
HBB p.Glu122Ter (p.E122*)
(
ENST00000335295.4,
ENST00000647020.1 )
HBB p.Glu122Ter (p.E122*) ( ENST00000335295.4, ENST00000647020.1 ) - Associated Disease
- Dominant beta-thalassemia
- Source Database
- ClinVar
- Description
- NM_000518.5(HBB):c.364G>T (p.Glu122Ter) AND Dominant beta-thalassemia
- ClinVar Allele ID
- 30443
- ClinVar RefSeq Alternation Syntax
- NM_000518.5:c.364G>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-05-06
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000016658
- ClinVar Disease
- Dominant beta-thalassemia
- Observed Origin Sample
- germline
- Pubmed
- 20233970
- Pubmed
- 2563949
- Pubmed
- 4129558
- Pubmed
- 1971109
Drugs