Annotation Detail
Information
- Associated Genes
- HBB
- Associated Variants
-
HBB p.Gly70Asp (p.G70D)
(
ENST00000647020.1,
ENST00000335295.4,
ENST00000485743.1 )
HBB p.Val24Phe (p.V24F) ( ENST00000647020.1, ENST00000335295.4, ENST00000485743.1 )
HBB p.Val24Ile (p.V24I) ( ENST00000485743.1, ENST00000335295.4, ENST00000647020.1 )
HBB p.Gly70Asp (p.G70D) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Val24Phe (p.V24F) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Val24Ile (p.V24I) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 ) - Associated Disease
- beta^0^ Thalassemia
- Source Database
- DisGeNET
- Description
- β-Thalassemia major resulting from compound heterozygosity for HBB: c.92+2T>C [formerly known as IVS-I-2 (T>C)] and a novel β(0)-thalassemia frameshift mutation: HBB: c.209delG; p.Gly70Valfs*20.
- Pubmed
- 24986053
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.127328930546168
- Year of publication
- 2015
Drugs