Annotation Detail
Information
- Associated Genes
- HBB LOC107133510 LOC110006319
- Associated Variants
-
HBB p.Leu115Pro (p.L115P)
(
ENST00000335295.4,
ENST00000647020.1 )
HBB p.Leu115Pro (p.L115P) ( ENST00000335295.4, ENST00000647020.1 ) - Associated Disease
- beta thalassemia
- Source Database
- ClinVar
- Description
- NM_000518.5(HBB):c.344T>C (p.Leu115Pro) AND beta Thalassemia
- ClinVar Allele ID
- 30552
- ClinVar RefSeq Alternation Syntax
- NM_000518.5:c.344T>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2017-09-15
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001826469
- ClinVar Disease
- beta Thalassemia
- Observed Origin Sample
- germline
Drugs