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
- beta thalassemia
- Source Database
- ClinVar
- Description
- NM_000518.4(HBB):c.364G>C (p.Glu122Gln) AND beta Thalassemia
- ClinVar Allele ID
- 30191
- ClinVar RefSeq Alternation Syntax
- NM_000518.5:c.364G>C
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2022-11-03
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000029994
- ClinVar Disease
- beta Thalassemia
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs