Annotation Detail
Information
- Associated Genes
- HBB LOC106099062 LOC107133510
- Associated Variants
-
HBB p.Val68CysfsTer22 (p.V68Cfs*22)
(
ENST00000647020.1,
ENST00000335295.4,
ENST00000485743.1 )
HBB p.Val68CysfsTer22 (p.V68Cfs*22) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 ) - Associated Disease
- Dominant beta-thalassemia
- Source Database
- ClinVar
- Description
- NM_000518.5(HBB):c.201del (p.Val68fs) AND Dominant beta-thalassemia
- ClinVar Allele ID
- 44966
- ClinVar RefSeq Alternation Syntax
- NM_000518.5:c.201del
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2011-08-18
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000029967
- ClinVar Disease
- Dominant beta-thalassemia
- Observed Origin Sample
- germline
Drugs