Annotation Detail
Information
- Associated Genes
- HBB
- Associated Variants
-
HBB p.Glu27Ter (p.E27*)
(
ENST00000335295.4,
ENST00000485743.1,
ENST00000647020.1 )
HBB p.Glu27Gln (p.E27Q) ( ENST00000485743.1, ENST00000335295.4, ENST00000647020.1 )
HBB p.Glu27Lys (p.E27K) ( ENST00000485743.1, ENST00000335295.4, ENST00000647020.1 )
HBB p.Glu27Ter (p.E27*) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Glu27Gln (p.E27Q) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Glu27Lys (p.E27K) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 ) - Associated Disease
- Hemoglobinopathies
- Source Database
- DisGeNET
- Description
- Hemoglobin E (E26K variant of beta-globin gene) causing hemoglobinopathy is commonly observed in parts of Thailand, regardless of the hematologic disadvantage of the homozygotes.
- Pubmed
- 19230568
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.262888331778182
- Year of publication
- 2003
Drugs