Annotation Detail
Information
- Associated Genes
- HBB
- Associated Variants
-
HBB p.Phe46LeufsTer16 (p.F46Lfs*16)
(
ENST00000335295.4,
ENST00000485743.1,
ENST00000647020.1 )
HBB p.Phe46LeufsTer16 (p.F46Lfs*16) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 ) - Associated Disease
- beta thalassemia
- Source Database
- DisGeNET
- Description
- Prevalence and molecular characterization of β-thalassemia in the state of Bahia, Brazil: first identification of mutation HBB: c.135delC in Brazil.
- Pubmed
- 23425035
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.672264397515791
- Year of publication
- 2013
Drugs