Annotation Detail
Information
- Associated Genes
- HBB
- Associated Variants
-
HBB p.Phe43del (p.F43del)
(
ENST00000647020.1,
ENST00000335295.4,
ENST00000485743.1 )
HBB p.Phe43del (p.F43del) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Cys113Arg (p.C113R) ( 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.Phe43Cys (p.F43C) ( ENST00000485743.1, ENST00000335295.4, ENST00000647020.1 )
HBB p.Phe43Ser (p.F43S) ( ENST00000647020.1, ENST00000485743.1, ENST00000335295.4 )
HBB p.Arg31Ser (p.R31S) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Arg31Ser (p.R31S) ( ENST00000485743.1, ENST00000335295.4, ENST00000647020.1 )
HBB p.Leu29Arg (p.L29R) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Leu29Pro (p.L29P) ( ENST00000647020.1, ENST00000485743.1, ENST00000335295.4 )
HBB p.Leu29Gln (p.L29Q) ( ENST00000647020.1, ENST00000485743.1, ENST00000335295.4 )
HBB p.Cys113Arg (p.C113R) ( 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.Phe43Cys (p.F43C) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Phe43Ser (p.F43S) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Arg31Ser (p.R31S) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Arg31Ser (p.R31S) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Leu29Arg (p.L29R) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Leu29Pro (p.L29P) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Leu29Gln (p.L29Q) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 ) - Associated Disease
- Heinz Body Anemias
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.36
- Year of publication
- NA
Drugs