Annotation Detail
Information
- Associated Genes
- HBB LOC106099062 LOC107133510
- Associated Variants
-
HBB p.Lys18ArgfsTer2 (p.K18Rfs*2)
(
ENST00000485743.1,
ENST00000335295.4,
ENST00000647020.1 )
HBB p.Lys18ArgfsTer2 (p.K18Rfs*2) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 ) - Associated Disease
- Inborn genetic diseases
- Source Database
- ClinVar
- Description
- NM_000518.5(HBB):c.51del (p.Lys18fs) AND Inborn genetic diseases
- ClinVar Allele ID
- 30453
- ClinVar RefSeq Alternation Syntax
- NM_000518.5:c.51del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2017-05-26
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002336087
- ClinVar Disease
- Inborn genetic diseases
- Observed Origin Sample
- germline
Drugs