Annotation Detail
Information
- Associated Genes
- HBB LOC106099062 LOC107133510
- Associated Variants
-
HBB p.Glu44Ter (p.E44*)
(
ENST00000647020.1,
ENST00000335295.4,
ENST00000485743.1 )
HBB p.Glu44Ter (p.E44*) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 ) - Associated Disease
- Hb SS disease
- Source Database
- ClinVar
- Description
- NM_000518.5(HBB):c.130G>T (p.Glu44Ter) AND Hb SS disease
- ClinVar Allele ID
- 30445
- ClinVar RefSeq Alternation Syntax
- NM_000518.5:c.130G>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001004568
- ClinVar Disease
- Hb SS disease
- Observed Origin Sample
- germline
Drugs