Annotation Detail
Information
- Associated Genes
- ABCC8
- Associated Variants
-
ABCC8 p.Ile1446Val (p.I1446V)
(
ENST00000683136.1,
ENST00000647015.1,
ENST00000642271.1,
ENST00000302539.9,
ENST00000646902.1,
ENST00000644772.1,
ENST00000643260.1,
ENST00000389817.8,
ENST00000684571.1 )
ABCC8 p.Ser1207Tyr (p.S1207Y) ( ENST00000643260.1, ENST00000684571.1, ENST00000389817.8, ENST00000302539.9, ENST00000644772.1, ENST00000646902.1, ENST00000642271.1, ENST00000683136.1, ENST00000647015.1 )
ABCC8 p.Glu382Lys (p.E382K) ( ENST00000647015.1, ENST00000683136.1, ENST00000642271.1, ENST00000646902.1, ENST00000644772.1, ENST00000302539.9, ENST00000389817.8, ENST00000684571.1, ENST00000643260.1 )
ABCC8 p.Leu225Pro (p.L225P) ( ENST00000302539.9, ENST00000644772.1, ENST00000646902.1, ENST00000643260.1, ENST00000684571.1, ENST00000389817.8, ENST00000683136.1, ENST00000647015.1, ENST00000642271.1 )
ABCC8 p.Leu213Arg (p.L213R) ( ENST00000302539.9, ENST00000646902.1, ENST00000644772.1, ENST00000643260.1, ENST00000389817.8, ENST00000684571.1, ENST00000683136.1, ENST00000647015.1, ENST00000642271.1 )
ABCC8 p.Gln211Lys (p.Q211K) ( ENST00000683136.1, ENST00000647015.1, ENST00000642271.1, ENST00000302539.9, ENST00000646902.1, ENST00000644772.1, ENST00000643260.1, ENST00000389817.8, ENST00000684571.1 )
ABCC8 p.Asp209= (p.D209=) ( ENST00000302539.9, ENST00000646902.1, ENST00000644772.1, ENST00000643260.1, ENST00000389817.8, ENST00000684571.1, ENST00000683136.1, ENST00000647015.1, ENST00000642271.1 )
ABCC8 p.Asp209Glu (p.D209E) ( ENST00000643260.1, ENST00000684571.1, ENST00000389817.8, ENST00000302539.9, ENST00000644772.1, ENST00000646902.1, ENST00000642271.1, ENST00000683136.1, ENST00000647015.1 )
ABCC8 p.Leu135Pro (p.L135P) ( ENST00000683136.1, ENST00000647015.1, ENST00000642271.1, ENST00000302539.9, ENST00000644772.1, ENST00000646902.1, ENST00000643260.1, ENST00000684571.1, ENST00000389817.8 )
ABCC8 p.Phe132Val (p.F132V) ( ENST00000642271.1, ENST00000683136.1, ENST00000647015.1, ENST00000643260.1, ENST00000389817.8, ENST00000684571.1, ENST00000302539.9, ENST00000646902.1, ENST00000644772.1 )
ABCC8 p.Phe132Leu (p.F132L) ( ENST00000646902.1, ENST00000644772.1, ENST00000302539.9, ENST00000389817.8, ENST00000684571.1, ENST00000643260.1, ENST00000647015.1, ENST00000683136.1, ENST00000642271.1 )
ABCC8 p.Val86Gly (p.V86G) ( ENST00000646902.1, ENST00000644772.1, ENST00000302539.9, ENST00000389817.8, ENST00000684571.1, ENST00000643260.1, ENST00000647015.1, ENST00000683136.1, ENST00000642271.1 )
ABCC8 p.Val86Ala (p.V86A) ( ENST00000643260.1, ENST00000684571.1, ENST00000389817.8, ENST00000302539.9, ENST00000644772.1, ENST00000646902.1, ENST00000642271.1, ENST00000683136.1, ENST00000647015.1 )
ABCC8 p.Asn72Ser (p.N72S) ( ENST00000643260.1, ENST00000684571.1, ENST00000389817.8, ENST00000302539.9, ENST00000644772.1, ENST00000646902.1, ENST00000642271.1, ENST00000683136.1, ENST00000647015.1 )
ABCC8 p.Pro45Leu (p.P45L) ( ENST00000302539.9, ENST00000644772.1, ENST00000646902.1, ENST00000643260.1, ENST00000684571.1, ENST00000389817.8, ENST00000683136.1, ENST00000647015.1, ENST00000642271.1 )
ABCC8 p.Ile1446Val (p.I1446V) ( ENST00000302539.9, ENST00000389817.8, ENST00000642271.1, ENST00000643260.1, ENST00000644772.1, ENST00000646902.1, ENST00000647015.1, ENST00000683136.1, ENST00000684571.1 )
ABCC8 p.Ser1207Tyr (p.S1207Y) ( ENST00000302539.9, ENST00000389817.8, ENST00000642271.1, ENST00000643260.1, ENST00000644772.1, ENST00000646902.1, ENST00000647015.1, ENST00000683136.1, ENST00000684571.1 )
ABCC8 p.Glu382Lys (p.E382K) ( ENST00000302539.9, ENST00000389817.8, ENST00000642271.1, ENST00000643260.1, ENST00000644772.1, ENST00000646902.1, ENST00000647015.1, ENST00000683136.1, ENST00000684571.1 )
ABCC8 p.Leu225Pro (p.L225P) ( ENST00000302539.9, ENST00000389817.8, ENST00000642271.1, ENST00000643260.1, ENST00000644772.1, ENST00000646902.1, ENST00000647015.1, ENST00000683136.1, ENST00000684571.1 )
ABCC8 p.Leu213Arg (p.L213R) ( ENST00000302539.9, ENST00000389817.8, ENST00000642271.1, ENST00000643260.1, ENST00000644772.1, ENST00000646902.1, ENST00000647015.1, ENST00000683136.1, ENST00000684571.1 )
ABCC8 p.Gln211Lys (p.Q211K) ( ENST00000302539.9, ENST00000389817.8, ENST00000642271.1, ENST00000643260.1, ENST00000644772.1, ENST00000646902.1, ENST00000647015.1, ENST00000683136.1, ENST00000684571.1 )
ABCC8 p.Asp209= (p.D209=) ( ENST00000302539.9, ENST00000389817.8, ENST00000642271.1, ENST00000643260.1, ENST00000644772.1, ENST00000646902.1, ENST00000647015.1, ENST00000683136.1, ENST00000684571.1 )
ABCC8 p.Asp209Glu (p.D209E) ( ENST00000302539.9, ENST00000389817.8, ENST00000642271.1, ENST00000643260.1, ENST00000644772.1, ENST00000646902.1, ENST00000647015.1, ENST00000683136.1, ENST00000684571.1 )
ABCC8 p.Leu135Pro (p.L135P) ( ENST00000302539.9, ENST00000389817.8, ENST00000642271.1, ENST00000643260.1, ENST00000644772.1, ENST00000646902.1, ENST00000647015.1, ENST00000683136.1, ENST00000684571.1 )
ABCC8 p.Phe132Val (p.F132V) ( ENST00000302539.9, ENST00000389817.8, ENST00000642271.1, ENST00000643260.1, ENST00000644772.1, ENST00000646902.1, ENST00000647015.1, ENST00000683136.1, ENST00000684571.1 )
ABCC8 p.Phe132Leu (p.F132L) ( ENST00000302539.9, ENST00000389817.8, ENST00000642271.1, ENST00000643260.1, ENST00000644772.1, ENST00000646902.1, ENST00000647015.1, ENST00000683136.1, ENST00000684571.1 )
ABCC8 p.Val86Gly (p.V86G) ( ENST00000302539.9, ENST00000389817.8, ENST00000642271.1, ENST00000643260.1, ENST00000644772.1, ENST00000646902.1, ENST00000647015.1, ENST00000683136.1, ENST00000684571.1 )
ABCC8 p.Val86Ala (p.V86A) ( ENST00000302539.9, ENST00000389817.8, ENST00000642271.1, ENST00000643260.1, ENST00000644772.1, ENST00000646902.1, ENST00000647015.1, ENST00000683136.1, ENST00000684571.1 )
ABCC8 p.Asn72Ser (p.N72S) ( ENST00000302539.9, ENST00000389817.8, ENST00000642271.1, ENST00000643260.1, ENST00000644772.1, ENST00000646902.1, ENST00000647015.1, ENST00000683136.1, ENST00000684571.1 )
ABCC8 p.Pro45Leu (p.P45L) ( ENST00000302539.9, ENST00000389817.8, ENST00000642271.1, ENST00000643260.1, ENST00000644772.1, ENST00000646902.1, ENST00000647015.1, ENST00000683136.1, ENST00000684571.1 ) - Associated Disease
- DIABETES MELLITUS, PERMANENT NEONATAL
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.483800186209124
- Year of publication
- NA
Drugs