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
- Source Database
- DisGeNET
- Description
- Hb S-São Paulo (SP) [HBB:c.20A>T p.Glu6Val; c.196A>G p.Lys65Glu] is a new double-mutant hemoglobin that was found in heterozygosis in an 18-month-old Brazilian male with moderate anemia.
- Pubmed
- 22244832
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0990881455690577
- Year of publication
- 2012
Drugs