Annotation Detail
Information
- Associated Genes
- HBB LOC106099062 LOC107133510
- Associated Variants
-
HBB p.Ala77ValfsTer13 (p.A77Vfs*13)
(
ENST00000647020.1,
ENST00000335295.4,
ENST00000485743.1 )
HBB p.Ala77ValfsTer13 (p.A77Vfs*13) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000518.5(HBB):c.230del (p.Ala77fs) AND not provided
- ClinVar Allele ID
- 30459
- ClinVar RefSeq Alternation Syntax
- NM_000518.5:c.230del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2024-01-21
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000508493
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs