Annotation Detail
Information
- Associated Genes
- HBB LOC107133510 LOC110006319
- Associated Variants
-
HBB p.Leu111Pro (p.L111P)
(
ENST00000647020.1,
ENST00000335295.4 )
HBB p.Leu111Pro (p.L111P) ( ENST00000335295.4, ENST00000647020.1 ) - Associated Disease
- beta thalassemia
- Source Database
- ClinVar
- Description
- NM_000518.4(HBB):c.332T>C (p.Leu111Pro) AND beta Thalassemia
- ClinVar Allele ID
- 30391
- ClinVar RefSeq Alternation Syntax
- NM_000518.5:c.332T>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2016-08-26
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000589517
- ClinVar Disease
- beta Thalassemia
- Observed Origin Sample
- germline
Drugs