Annotation Detail
Information
- Associated Genes
- HBB
- Associated Variants
-
HBB p.Phe43del (p.F43del)
(
ENST00000647020.1,
ENST00000335295.4,
ENST00000485743.1 )
HBB p.Val24del (p.V24del) ( ENST00000485743.1, ENST00000335295.4, ENST00000647020.1 )
HBB p.Phe43del (p.F43del) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Val24del (p.V24del) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Val135Gly (p.V135G) ( ENST00000335295.4, ENST00000647020.1 )
HBB p.Val135Ala (p.V135A) ( ENST00000647020.1, ENST00000335295.4 )
HBB p.Val135Glu (p.V135E) ( ENST00000335295.4, ENST00000647020.1 )
HBB p.Val127Gly (p.V127G) ( ENST00000335295.4, ENST00000647020.1 )
HBB p.Val127Ala (p.V127A) ( ENST00000647020.1, ENST00000335295.4 )
HBB p.Val127Glu (p.V127E) ( ENST00000647020.1, ENST00000335295.4 )
HBB p.Ala116Val (p.A116V) ( ENST00000335295.4, ENST00000647020.1 )
HBB p.Ala116Asp (p.A116D) ( ENST00000335295.4, ENST00000647020.1 )
HBB p.Val99Leu (p.V99L) ( ENST00000647020.1, ENST00000485743.1, ENST00000335295.4 )
HBB p.Val99Met (p.V99M) ( ENST00000647020.1, ENST00000335295.4, ENST00000485743.1 )
HBB p.His93Tyr (p.H93Y) ( ENST00000485743.1, ENST00000335295.4, ENST00000647020.1 )
HBB p.His93Asp (p.H93D) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.His93Asn (p.H93N) ( ENST00000647020.1, ENST00000335295.4, ENST00000485743.1 )
HBB p.Phe86Ser (p.F86S) ( ENST00000647020.1, ENST00000335295.4, ENST00000485743.1 )
HBB p.Lys67Glu (p.K67E) ( ENST00000485743.1, ENST00000335295.4, ENST00000647020.1 )
HBB p.Pro59Arg (p.P59R) ( ENST00000647020.1, ENST00000335295.4, ENST00000485743.1 )
HBB p.Pro59His (p.P59H) ( ENST00000647020.1, ENST00000335295.4, ENST00000485743.1 )
HBB p.Val135Gly (p.V135G) ( ENST00000335295.4, ENST00000647020.1 )
HBB p.Val135Ala (p.V135A) ( ENST00000335295.4, ENST00000647020.1 )
HBB p.Val135Glu (p.V135E) ( ENST00000335295.4, ENST00000647020.1 )
HBB p.Val127Gly (p.V127G) ( ENST00000335295.4, ENST00000647020.1 )
HBB p.Val127Ala (p.V127A) ( ENST00000335295.4, ENST00000647020.1 )
HBB p.Val127Glu (p.V127E) ( ENST00000335295.4, ENST00000647020.1 )
HBB p.Ala116Val (p.A116V) ( ENST00000335295.4, ENST00000647020.1 )
HBB p.Ala116Asp (p.A116D) ( ENST00000335295.4, ENST00000647020.1 )
HBB p.Val99Leu (p.V99L) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Val99Met (p.V99M) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.His93Tyr (p.H93Y) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.His93Asp (p.H93D) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.His93Asn (p.H93N) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Phe86Ser (p.F86S) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Lys67Glu (p.K67E) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Pro59Arg (p.P59R) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Pro59His (p.P59H) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 ) - Associated Disease
- Hemoglobinopathies
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.262888331778182
- Year of publication
- NA
Drugs