Annotation Detail
Information
- Associated Genes
- HBB
- Associated Variants
-
HBB p.Val110CysfsTer49 (p.V110Cfs*49)
(
ENST00000647020.1,
ENST00000335295.4 )
HBB p.Ala77ValfsTer13 (p.A77Vfs*13) ( ENST00000647020.1, ENST00000335295.4, ENST00000485743.1 )
HBB p.Gly65AlafsTer25 (p.G65Afs*25) ( ENST00000647020.1, ENST00000485743.1, ENST00000335295.4 )
HBB p.Phe46LeufsTer16 (p.F46Lfs*16) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Phe42LeufsTer19 (p.F42Lfs*19) ( ENST00000647020.1, ENST00000335295.4, ENST00000485743.1 )
HBB p.Trp38Ter (p.W38*) ( ENST00000647020.1, ENST00000485743.1, ENST00000335295.4 )
HBB p.Trp38GlyfsTer24 (p.W38Gfs*24) ( ENST00000647020.1, ENST00000335295.4, ENST00000485743.1 )
HBB p.Pro37LeufsTer25 (p.P37Lfs*25) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Arg31SerfsTer13 (p.R31Sfs*13) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Gly26_Arg31del (p.G26_R31del) ( ENST00000485743.1, ENST00000335295.4, ENST00000647020.1 )
HBB p.Lys18ArgfsTer2 (p.K18Rfs*2) ( ENST00000485743.1, ENST00000335295.4, ENST00000647020.1 )
HBB p.Thr13LeufsTer7 (p.T13Lfs*7) ( ENST00000647020.1, ENST00000335295.4, ENST00000485743.1 )
HBB p.Lys9ValfsTer14 (p.K9Vfs*14) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Glu7GlyfsTer13 (p.E7Gfs*13) ( ENST00000485743.1, ENST00000335295.4, ENST00000647020.1 )
HBB p.Pro6ArgfsTer17 (p.P6Rfs*17) ( ENST00000647020.1, ENST00000485743.1, ENST00000335295.4 )
HBB p.Val2CysfsTer3 (p.V2Cfs*3) ( ENST00000647020.1, ENST00000485743.1, ENST00000335295.4 )
HBB p.Val110CysfsTer49 (p.V110Cfs*49) ( ENST00000335295.4, ENST00000647020.1 )
HBB p.Ala77ValfsTer13 (p.A77Vfs*13) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Gly65AlafsTer25 (p.G65Afs*25) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Phe46LeufsTer16 (p.F46Lfs*16) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Phe42LeufsTer19 (p.F42Lfs*19) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Trp38Ter (p.W38*) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Trp38GlyfsTer24 (p.W38Gfs*24) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Pro37LeufsTer25 (p.P37Lfs*25) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Arg31SerfsTer13 (p.R31Sfs*13) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Gly26_Arg31del (p.G26_R31del) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Lys18ArgfsTer2 (p.K18Rfs*2) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Thr13LeufsTer7 (p.T13Lfs*7) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Lys9ValfsTer14 (p.K9Vfs*14) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Glu7GlyfsTer13 (p.E7Gfs*13) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Pro6ArgfsTer17 (p.P6Rfs*17) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Val2CysfsTer3 (p.V2Cfs*3) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Leu115GlyfsTer44 (p.L115Gfs*44) ( ENST00000335295.4, ENST00000647020.1 )
HBB p.Ser73LeufsTer16 (p.S73Lfs*16) ( ENST00000485743.1, ENST00000335295.4, ENST00000647020.1 )
HBB p.Leu115GlyfsTer44 (p.L115Gfs*44) ( ENST00000335295.4, ENST00000647020.1 )
HBB p.Ser73LeufsTer16 (p.S73Lfs*16) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB MUTATION
HBB MUTATION
HBB c.316-197C>T ( 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.Glu91Ter (p.E91*) ( ENST00000647020.1, ENST00000335295.4, ENST00000485743.1 )
HBB p.Glu91Lys (p.E91K) ( ENST00000647020.1, ENST00000485743.1, ENST00000335295.4 )
HBB p.Lys62Ter (p.K62*) ( ENST00000485743.1, ENST00000335295.4, ENST00000647020.1 )
HBB p.Lys62Glu (p.K62E) ( ENST00000485743.1, ENST00000335295.4, ENST00000647020.1 )
HBB p.Lys62Gln (p.K62Q) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Glu44Ter (p.E44*) ( ENST00000647020.1, ENST00000335295.4, ENST00000485743.1 )
HBB p.Glu44Gln (p.E44Q) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Glu44Lys (p.E44K) ( ENST00000485743.1, ENST00000647020.1, ENST00000335295.4 )
HBB p.Gln40Ter (p.Q40*) ( ENST00000485743.1, ENST00000335295.4, ENST00000647020.1 )
HBB p.Gln40Glu (p.Q40E) ( ENST00000647020.1, ENST00000485743.1, ENST00000335295.4 )
HBB p.Gln40Lys (p.Q40K) ( ENST00000485743.1, ENST00000335295.4, 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 p.Tyr36= (p.Y36=) ( ENST00000647020.1, ENST00000335295.4, ENST00000485743.1 )
HBB p.Tyr36Ter (p.Y36*) ( ENST00000647020.1, ENST00000485743.1, ENST00000335295.4 )
HBB c.93-1G>C ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB c.93-1G>A ( ENST00000647020.1, ENST00000335295.4, ENST00000485743.1 )
HBB c.92+1G>T ( ENST00000647020.1, ENST00000485743.1, ENST00000335295.4 )
HBB c.92+1G>A ( ENST00000647020.1, ENST00000335295.4, ENST00000485743.1 )
HBB p.Lys18Ter (p.K18*) ( ENST00000647020.1, ENST00000485743.1, ENST00000335295.4 )
HBB p.Lys18Glu (p.K18E) ( ENST00000647020.1, ENST00000485743.1, ENST00000335295.4 )
HBB p.Lys18Gln (p.K18Q) ( ENST00000647020.1, ENST00000485743.1, ENST00000335295.4 )
HBB p.Trp16Ter (p.W16*) ( ENST00000485743.1, ENST00000335295.4, ENST00000647020.1 )
HBB p.? (p.?) ( ENST00000485743.1, ENST00000335295.4, ENST00000647020.1 )
HBB p.? (p.?) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.? (p.?) ( ENST00000335295.4, ENST00000485743.1, 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.316-197C>T ( 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.Glu91Ter (p.E91*) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Glu91Lys (p.E91K) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Lys62Ter (p.K62*) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Lys62Glu (p.K62E) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Lys62Gln (p.K62Q) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Glu44Ter (p.E44*) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Glu44Gln (p.E44Q) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Glu44Lys (p.E44K) ( ENST00000485743.1, ENST00000335295.4, ENST00000647020.1 )
HBB p.Gln40Ter (p.Q40*) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Gln40Glu (p.Q40E) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Gln40Lys (p.Q40K) ( 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 p.Tyr36= (p.Y36=) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Tyr36Ter (p.Y36*) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB c.93-1G>C ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB c.93-1G>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.Lys18Ter (p.K18*) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Lys18Glu (p.K18E) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Lys18Gln (p.K18Q) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB p.Trp16Ter (p.W16*) ( 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.?) ( 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 p.Asn109GlnfsTer32 (p.N109Qfs*32)
HBB p.Lys96AlafsTer64 (p.K96Afs*64)
HBB p.Ser73MetfsTer2 (p.S73Mfs*2)
HBB p.Ser73LysfsTer2 (p.S73Kfs*2)
HBB p.Leu29ProfsTer16 (p.L29Pfs*16)
HBB p.Glu27AspfsTer18 (p.E27Dfs*18)
HBB p.Lys18GlnfsTer6 (p.K18Qfs*6)
HBB p.Ser10CysfsTer14 (p.S10Cfs*14)
HBB p.Asn109GlnfsTer32 (p.N109Qfs*32)
HBB p.Lys96AlafsTer64 (p.K96Afs*64)
HBB p.Ser73MetfsTer2 (p.S73Mfs*2)
HBB p.Ser73LysfsTer2 (p.S73Kfs*2)
HBB p.Leu29ProfsTer16 (p.L29Pfs*16)
HBB p.Glu27AspfsTer18 (p.E27Dfs*18)
HBB p.Lys18GlnfsTer6 (p.K18Qfs*6)
HBB p.Ser10CysfsTer14 (p.S10Cfs*14) - Associated Disease
- beta^0^ Thalassemia
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.127328930546168
- Year of publication
- NA
Drugs