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
- In this population, a single mutation of beta-globin gene (Q39X, beta(0) 39) accounts for >95% of beta-thalassemia cases.
- Pubmed
- 10634824
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.672264397515791
- Year of publication
- 2000
Drugs