Annotation Detail
Information
- Associated Genes
- HBB
- Associated Variants
-
HBB p.Gly84AlafsTer6 (p.G84Afs*6)
(
ENST00000647020.1,
ENST00000335295.4,
ENST00000485743.1 )
HBB p.Ala77ValfsTer13 (p.A77Vfs*13) ( ENST00000647020.1, ENST00000335295.4, ENST00000485743.1 )
HBB p.Phe46LeufsTer16 (p.F46Lfs*16) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Gln40GlufsTer4 (p.Q40Efs*4) ( ENST00000647020.1, ENST00000485743.1, ENST00000335295.4 )
HBB p.Arg31SerfsTer13 (p.R31Sfs*13) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Lys18ArgfsTer2 (p.K18Rfs*2) ( ENST00000485743.1, ENST00000335295.4, ENST00000647020.1 )
HBB p.Lys9ValfsTer14 (p.K9Vfs*14) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Gly84AlafsTer6 (p.G84Afs*6) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Ala77ValfsTer13 (p.A77Vfs*13) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Phe46LeufsTer16 (p.F46Lfs*16) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Gln40GlufsTer4 (p.Q40Efs*4) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Arg31SerfsTer13 (p.R31Sfs*13) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Lys18ArgfsTer2 (p.K18Rfs*2) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Lys9ValfsTer14 (p.K9Vfs*14) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Glu7Met (p.E7M) ( ENST00000647020.1, ENST00000335295.4, ENST00000485743.1 )
HBB p.Glu7Met (p.E7M) ( ENST00000335295.4, ENST00000485743.1, 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.Val110Leu (p.V110L) ( ENST00000335295.4, ENST00000647020.1 )
HBB p.Val110Leu (p.V110L) ( ENST00000335295.4, ENST00000647020.1 )
HBB p.Val110Met (p.V110M) ( ENST00000335295.4, ENST00000647020.1 )
HBB c.316-14T>G ( ENST00000335295.4, ENST00000647020.1 )
HBB c.316-106C>G ( ENST00000647020.1, ENST00000335295.4 )
HBB c.315+1G>T ( ENST00000485743.1, ENST00000335295.4, ENST00000647020.1 )
HBB c.315+1G>C ( ENST00000647020.1, ENST00000485743.1, ENST00000335295.4 )
HBB c.315+1G>A ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Trp38Cys (p.W38C) ( ENST00000647020.1, ENST00000485743.1, ENST00000335295.4 )
HBB p.Trp38Ter (p.W38*) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB c.93-3T>G ( ENST00000485743.1, ENST00000335295.4, ENST00000647020.1 )
HBB c.93-3T>C ( ENST00000485743.1, ENST00000335295.4, ENST00000647020.1 )
HBB c.93-3T>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 c.92+2T>G ( ENST00000647020.1, ENST00000335295.4, ENST00000485743.1 )
HBB c.92+2T>C ( ENST00000485743.1, ENST00000335295.4, ENST00000647020.1 )
HBB c.92+2T>A ( ENST00000647020.1, ENST00000485743.1, ENST00000335295.4 )
HBB c.92+1G>T ( ENST00000647020.1, ENST00000485743.1, ENST00000335295.4 )
HBB c.92+1G>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.Ala28Ser (p.A28S) ( ENST00000485743.1, ENST00000335295.4, ENST00000647020.1 )
HBB p.Ala28Pro (p.A28P) ( ENST00000647020.1, ENST00000335295.4, ENST00000485743.1 )
HBB p.Ala28Thr (p.A28T) ( ENST00000647020.1, ENST00000335295.4, ENST00000485743.1 )
HBB p.Gly25= (p.G25=) ( ENST00000647020.1, ENST00000485743.1, ENST00000335295.4 )
HBB p.Gly25= (p.G25=) ( ENST00000485743.1, ENST00000335295.4, ENST00000647020.1 )
HBB p.? (p.?) ( ENST00000647020.1, ENST00000335295.4, ENST00000485743.1 )
HBB p.? (p.?) ( ENST00000647020.1, ENST00000485743.1, ENST00000335295.4 )
HBB p.? (p.?) ( ENST00000647020.1, ENST00000485743.1, ENST00000335295.4 )
HBB c.-50A>C ( ENST00000485743.1, ENST00000647020.1 )
HBB c.-78A>G ( ENST00000647020.1 )
HBB c.-78A>C ( ENST00000647020.1 )
HBB c.-80T>G ( ENST00000647020.1 )
HBB c.-80T>C ( ENST00000647020.1 )
HBB c.-80T>A ( ENST00000647020.1 )
HBB c.-136C>T ( ENST00000647020.1 )
HBB c.-136C>G ( ENST00000647020.1 )
HBB c.-136C>A ( ENST00000647020.1 )
HBB c.-140C>T ( ENST00000647020.1 )
HBB c.-151C>T ( 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) ( ENST00000335295.4, ENST00000647020.1 )
HBB p.Val110Leu (p.V110L) ( ENST00000335295.4, ENST00000647020.1 )
HBB p.Val110Leu (p.V110L) ( ENST00000335295.4, ENST00000647020.1 )
HBB p.Val110Met (p.V110M) ( ENST00000335295.4, ENST00000647020.1 )
HBB c.316-14T>G ( ENST00000335295.4, ENST00000647020.1 )
HBB c.316-106C>G ( ENST00000335295.4, ENST00000647020.1 )
HBB c.315+1G>T ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB c.315+1G>C ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB c.315+1G>A ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Trp38Cys (p.W38C) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Trp38Ter (p.W38*) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB c.93-3T>G ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB c.93-3T>C ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB c.93-3T>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 c.92+2T>G ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB c.92+2T>C ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB c.92+2T>A ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB c.92+1G>T ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB c.92+1G>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 )
HBB p.Ala28Ser (p.A28S) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Ala28Pro (p.A28P) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Ala28Thr (p.A28T) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Gly25= (p.G25=) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Gly25= (p.G25=) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.? (p.?) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.? (p.?) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.? (p.?) ( ENST00000485743.1, ENST00000647020.1, ENST00000335295.4 )
HBB c.-50A>C ( ENST00000485743.1, ENST00000647020.1 )
HBB c.-78A>G ( ENST00000647020.1 )
HBB c.-78A>C ( ENST00000647020.1 )
HBB c.-80T>G ( ENST00000647020.1 )
HBB c.-80T>C ( ENST00000647020.1 )
HBB c.-80T>A ( ENST00000647020.1 )
HBB c.-136C>T ( ENST00000647020.1 )
HBB c.-136C>G ( ENST00000647020.1 )
HBB c.-136C>A ( ENST00000647020.1 )
HBB c.-140C>T ( ENST00000647020.1 )
HBB c.-151C>T ( ENST00000647020.1 )
HBB p.Leu97ThrfsTer6 (p.L97Tfs*6)
HBB p.Leu49ThrfsTer5 (p.L49Tfs*5)
HBB p.Leu29ProfsTer16 (p.L29Pfs*16)
HBB p.Ser10CysfsTer14 (p.S10Cfs*14)
HBB p.Leu97ThrfsTer6 (p.L97Tfs*6)
HBB p.Leu49ThrfsTer5 (p.L49Tfs*5)
HBB p.Leu29ProfsTer16 (p.L29Pfs*16)
HBB p.Ser10CysfsTer14 (p.S10Cfs*14) - Associated Disease
- beta thalassemia
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.672264397515791
- Year of publication
- NA
Drugs