Annotation Detail
Information
- Associated Genes
- HBB
- Associated Variants
-
HBB p.Glu7Val (p.E7V)
(
ENST00000647020.1,
ENST00000485743.1,
ENST00000335295.4 )
HBB p.Glu7Gly (p.E7G) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Glu7Ala (p.E7A) ( ENST00000485743.1, ENST00000335295.4, ENST00000647020.1 )
HBB p.Glu7Val (p.E7V) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Glu7Gly (p.E7G) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Glu7Ala (p.E7A) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 ) - Associated Disease
- Anemia, Sickle Cell
- Source Database
- DisGeNET
- Description
- Gene mutations in human haemoglobin: the chemical difference between normal and sickle cell haemoglobin.
- Pubmed
- 13464827
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.577859960475621
- Year of publication
- 1957
Drugs