Annotation Detail
Information
- Associated Genes
- HBB
- Associated Variants
-
HBB MUTATION
HBB MUTATION - Associated Disease
- Beta thalassemia intermedia
- Source Database
- DisGeNET
- Description
- The proband, who showed the phenotype of β-thalassemia intermedia (β-TI), was found to be a compound heterozygote for the novel mutation -25 (G>T) (HBB: c.-75G>T) and a codon 17 (HBB: c.52A>T) mutation.
- Pubmed
- 25657036
- Section of the abstract supporting the evidence
- ALL_TEXT_1/3
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 2
- Original source reporting the Gene Disease association
- BeFree,CLINVAR,ORPHANET
- DisGENET score for the Gene Disease association
- 0.244071628081205
Drugs