Annotation Detail
Information
- Associated Genes
- HBB
- Associated Variants
-
HBB p.Gln40Ter (p.Q40*)
(
ENST00000485743.1,
ENST00000335295.4,
ENST00000647020.1 )
HBB p.Gln40Glu (p.Q40E) ( ENST00000647020.1, ENST00000485743.1, ENST00000335295.4 )
HBB p.Gln40Lys (p.Q40K) ( ENST00000485743.1, ENST00000335295.4, ENST00000647020.1 )
HBB p.Gln40Ter (p.Q40*) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Gln40Glu (p.Q40E) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Gln40Lys (p.Q40K) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 ) - Associated Disease
- beta thalassemia
- Source Database
- DisGeNET
- Description
- This was documented in FH patients identified on the island of Sardinia, in Italy, where 12% of the inhabitants are carriers of beta-thalassemia due to a single mutation (Q39X) of the beta-globin gene that abolishes the synthesis of beta-globin chain of hemoglobin (beta(o)-thalassemia).
- Pubmed
- 15630628
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.672264397515791
- Year of publication
- 2004
Drugs