Annotation Detail
Information
- Associated Genes
- HBB LOC106099062 LOC107133510
- Associated Variants
-
HBB p.Phe46LeufsTer16 (p.F46Lfs*16)
(
ENST00000335295.4,
ENST00000485743.1,
ENST00000647020.1 )
HBB p.Phe46LeufsTer16 (p.F46Lfs*16) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 ) - Associated Disease
- Beta zero thalassemia
- Source Database
- ClinVar
- Description
- NM_000518.5(HBB):c.135del (p.Phe46fs) AND Beta zero thalassemia
- ClinVar Allele ID
- 30454
- ClinVar RefSeq Alternation Syntax
- NM_000518.5:c.135del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1982-09-25
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000016671
- ClinVar Disease
- Beta zero thalassemia
- Observed Origin Sample
- germline
- Pubmed
- 6292840
Drugs