Annotation Detail
Information
- Associated Genes
- HBB LOC107133510 LOC110006319
- Associated Variants
-
HBB p.Val110CysfsTer49 (p.V110Cfs*49)
(
ENST00000647020.1,
ENST00000335295.4 )
HBB p.Val110CysfsTer49 (p.V110Cfs*49) ( ENST00000335295.4, ENST00000647020.1 ) - Associated Disease
- Beta zero thalassemia
- Source Database
- ClinVar
- Description
- NM_000518.5(HBB):c.328del (p.Val110fs) AND Beta zero thalassemia
- ClinVar Allele ID
- 30469
- ClinVar RefSeq Alternation Syntax
- NM_000518.5:c.328del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1986-06-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000016687
- ClinVar Disease
- Beta zero thalassemia
- Observed Origin Sample
- germline
- Pubmed
- 3014870
Drugs