Annotation Detail
Information
- Associated Genes
- HBB LOC107133510 LOC110006319
- Associated Variants
-
HBB p.Glu122Gln (p.E122Q)
(
ENST00000335295.4,
ENST00000647020.1 )
HBB p.Glu122Gln (p.E122Q) ( ENST00000335295.4, ENST00000647020.1 ) - Associated Disease
- HBB-related disorder
- Source Database
- ClinVar
- Description
- NM_000518.4(HBB):c.364G>C (p.Glu122Gln) AND HBB-related disorder
- ClinVar Allele ID
- 30191
- ClinVar RefSeq Alternation Syntax
- NM_000518.5:c.364G>C
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2019-01-12
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000778329
- ClinVar Disease
- HBB-related disorder
- Observed Origin Sample
- germline
Drugs