Annotation Detail
Information
- Associated Genes
- HBB LOC106099062 LOC107133510
- Associated Variants
-
HBB p.Asp74Asn (p.D74N)
(
ENST00000335295.4,
ENST00000485743.1,
ENST00000647020.1 )
HBB p.Asp74Asn (p.D74N) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000518.4(HBB):c.220G>A (p.Asp74Asn) AND not provided
- ClinVar Allele ID
- 30283
- ClinVar RefSeq Alternation Syntax
- NM_000518.5:c.220G>A
- Clinical Significance Description
- Conflicting interpretations of pathogenicity
- Clinical Significance Last Update
- 2023-11-27
- Clinical Significance Review Status
- criteria provided, conflicting interpretations
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000587238
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs