Annotation Detail
Information
- Associated Genes
- HBB
- Associated Variants
-
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.Lys9ValfsTer14 (p.K9Vfs*14) ( 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.Lys9ValfsTer14 (p.K9Vfs*14) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB c.316-2A>G ( ENST00000335295.4, ENST00000647020.1 )
HBB c.316-2A>C ( ENST00000335295.4, ENST00000647020.1 )
HBB c.316-106C>G ( ENST00000647020.1, ENST00000335295.4 )
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.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 c.93-21G>A ( ENST00000647020.1, ENST00000485743.1, ENST00000335295.4 )
HBB c.92+6T>C ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB c.92+6T>A ( ENST00000485743.1, ENST00000335295.4, ENST00000647020.1 )
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+1G>T ( ENST00000647020.1, ENST00000485743.1, ENST00000335295.4 )
HBB c.92+1G>A ( 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.Asn20Ser (p.N20S) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
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 c.-78A>G ( ENST00000647020.1 )
HBB c.-78A>C ( ENST00000647020.1 )
HBB c.-79A>G ( ENST00000647020.1 )
HBB c.-136C>T ( ENST00000647020.1 )
HBB c.-136C>G ( ENST00000647020.1 )
HBB c.-136C>A ( ENST00000647020.1 )
HBB c.-138C>T ( ENST00000647020.1 )
HBB c.-138C>G ( ENST00000647020.1 )
HBB c.-138C>A ( ENST00000647020.1 )
HBB c.316-2A>G ( ENST00000335295.4, ENST00000647020.1 )
HBB c.316-2A>C ( ENST00000335295.4, ENST00000647020.1 )
HBB c.316-106C>G ( ENST00000335295.4, ENST00000647020.1 )
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.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 c.93-21G>A ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB c.92+6T>C ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB c.92+6T>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+1G>T ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
HBB c.92+1G>A ( 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.Asn20Ser (p.N20S) ( 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 c.-78A>G ( ENST00000647020.1 )
HBB c.-78A>C ( ENST00000647020.1 )
HBB c.-79A>G ( ENST00000647020.1 )
HBB c.-136C>T ( ENST00000647020.1 )
HBB c.-136C>G ( ENST00000647020.1 )
HBB c.-136C>A ( ENST00000647020.1 )
HBB c.-138C>T ( ENST00000647020.1 )
HBB c.-138C>G ( ENST00000647020.1 )
HBB c.-138C>A ( ENST00000647020.1 )
HBB p.Ser10CysfsTer14 (p.S10Cfs*14)
HBB p.Ser10CysfsTer14 (p.S10Cfs*14) - Associated Disease
- alpha-Thalassemia
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.287197343221812
- Year of publication
- NA
Drugs