Annotation Detail
Information
- Associated Genes
- HBB LOC106099062 LOC107133510
- Associated Variants
-
HBB p.Gln40GlufsTer4 (p.Q40Efs*4)
(
ENST00000647020.1,
ENST00000485743.1,
ENST00000335295.4 )
HBB p.Gln40GlufsTer4 (p.Q40Efs*4) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 ) - Associated Disease
- beta thalassemia
- Source Database
- ClinVar
- Description
- NM_000518.5(HBB):c.117_118del (p.Gln40fs) AND beta Thalassemia
- ClinVar Allele ID
- 30590
- ClinVar RefSeq Alternation Syntax
- NM_000518.5:c.117_118del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2019-11-25
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000016817
- ClinVar Disease
- beta Thalassemia
- Observed Origin Sample
- germline
- Pubmed
- 8682512
Drugs