Annotation Detail
Information
- Associated Genes
- HBB LOC106099062 LOC107133510
- Associated Variants
-
HBB p.Val2CysfsTer3 (p.V2Cfs*3)
(
ENST00000647020.1,
ENST00000485743.1,
ENST00000335295.4 )
HBB p.Val2CysfsTer3 (p.V2Cfs*3) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 ) - Associated Disease
- Beta zero thalassemia
- Source Database
- ClinVar
- Description
- NM_000518.5(HBB):c.4del (p.Val2fs) AND Beta zero thalassemia
- ClinVar Allele ID
- 30547
- ClinVar RefSeq Alternation Syntax
- NM_000518.5:c.4del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1992-02-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000016770
- ClinVar Disease
- Beta zero thalassemia
- Observed Origin Sample
- germline
- Pubmed
- 6280057
- Pubmed
- 1734721
Drugs