Annotation Detail
Information
- Associated Genes
- HBB
- Associated Variants
-
HBB p.Val68CysfsTer22 (p.V68Cfs*22)
(
ENST00000647020.1,
ENST00000335295.4,
ENST00000485743.1 )
HBB p.Val68CysfsTer22 (p.V68Cfs*22) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Ala129ProfsTer12 (p.A129Pfs*12) ( ENST00000335295.4, ENST00000647020.1 )
HBB p.Ala129ProfsTer12 (p.A129Pfs*12) ( ENST00000335295.4, ENST00000647020.1 )
HBB p.Glu122Ter (p.E122*) ( ENST00000335295.4, ENST00000647020.1 )
HBB p.Glu122Gln (p.E122Q) ( ENST00000335295.4, ENST00000647020.1 )
HBB p.Glu122Lys (p.E122K) ( ENST00000647020.1, ENST00000335295.4 )
HBB p.Glu122Ter (p.E122*) ( ENST00000335295.4, ENST00000647020.1 )
HBB p.Glu122Gln (p.E122Q) ( ENST00000335295.4, ENST00000647020.1 )
HBB p.Glu122Lys (p.E122K) ( ENST00000335295.4, ENST00000647020.1 ) - Associated Disease
- Beta Thalassemia, Dominant Inclusion Body Type
- 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