Annotation Detail
Information
- Associated Genes
- HBB
- Associated Variants
-
HBB p.Gly84AlafsTer6 (p.G84Afs*6)
(
ENST00000647020.1,
ENST00000335295.4,
ENST00000485743.1 )
HBB p.Val68AlafsTer5 (p.V68Afs*5) ( ENST00000485743.1, ENST00000335295.4, ENST00000647020.1 )
HBB p.Gly84AlafsTer6 (p.G84Afs*6) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Val68AlafsTer5 (p.V68Afs*5) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Leu111Pro (p.L111P) ( ENST00000647020.1, ENST00000335295.4 )
HBB c.316-197C>T ( ENST00000647020.1, ENST00000335295.4 )
HBB c.93-21G>A ( ENST00000647020.1, ENST00000485743.1, ENST00000335295.4 )
HBB c.92+5G>T ( ENST00000485743.1, ENST00000335295.4, ENST00000647020.1 )
HBB c.92+5G>C ( ENST00000647020.1, ENST00000335295.4, ENST00000485743.1 )
HBB c.92+5G>A ( ENST00000647020.1, ENST00000335295.4, ENST00000485743.1 )
HBB p.Arg31Thr (p.R31T) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Arg31Lys (p.R31K) ( ENST00000485743.1, ENST00000335295.4, ENST00000647020.1 )
HBB p.Leu111Pro (p.L111P) ( ENST00000335295.4, ENST00000647020.1 )
HBB c.316-197C>T ( ENST00000335295.4, ENST00000647020.1 )
HBB c.93-21G>A ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB c.92+5G>T ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB c.92+5G>C ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB c.92+5G>A ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Arg31Thr (p.R31T) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Arg31Lys (p.R31K) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 ) - Associated Disease
- beta thalassemia major anemia
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.12
- Year of publication
- NA
Drugs