Annotation Detail
Information
- Associated Genes
- HBB LOC106099062 LOC107133510
- Associated Variants
-
HBB p.Lys62Glu (p.K62E)
(
ENST00000485743.1,
ENST00000335295.4,
ENST00000647020.1 )
HBB p.Lys62Glu (p.K62E) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 ) - Associated Disease
- beta thalassemia
- Source Database
- ClinVar
- Description
- NM_000518.4(HBB):c.184A>G (p.Lys62Glu) AND beta Thalassemia
- ClinVar Allele ID
- 30319
- ClinVar RefSeq Alternation Syntax
- NM_000518.5:c.184A>G
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2020-03-31
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001826466
- ClinVar Disease
- beta Thalassemia
- Observed Origin Sample
- germline
Drugs