Annotation Detail
Information
- Associated Genes
- ABCC8
- Associated Variants
-
ABCC8 p.Val1561Met (p.V1561M)
(
ENST00000642271.1,
ENST00000647015.1,
ENST00000683136.1,
ENST00000389817.8,
ENST00000684571.1,
ENST00000643260.1,
ENST00000646902.1,
ENST00000644772.1,
ENST00000302539.9 )
ABCC8 p.Val1544Met (p.V1544M) ( ENST00000684571.1, ENST00000389817.8, ENST00000643260.1, ENST00000644772.1, ENST00000646902.1, ENST00000302539.9, ENST00000642271.1, ENST00000647015.1, ENST00000683136.1 )
ABCC8 p.Ile1540Ser (p.I1540S) ( ENST00000647015.1, ENST00000683136.1, ENST00000642271.1, ENST00000644772.1, ENST00000646902.1, ENST00000302539.9, ENST00000684571.1, ENST00000389817.8, ENST00000643260.1 )
ABCC8 p.Ile1478= (p.I1478=) ( ENST00000684571.1, ENST00000643260.1, ENST00000389817.8, ENST00000302539.9, ENST00000644772.1, ENST00000646902.1, ENST00000642271.1, ENST00000683136.1, ENST00000647015.1 )
ABCC8 p.Ile1478Met (p.I1478M) ( ENST00000389817.8, ENST00000684571.1, ENST00000643260.1, ENST00000646902.1, ENST00000644772.1, ENST00000302539.9, ENST00000642271.1, ENST00000647015.1, ENST00000683136.1 )
ABCC8 p.Arg1401Leu (p.R1401L) ( ENST00000302539.9, ENST00000644772.1, ENST00000646902.1, ENST00000643260.1, ENST00000684571.1, ENST00000389817.8, ENST00000683136.1, ENST00000647015.1, ENST00000642271.1 )
ABCC8 p.Arg1401Cys (p.R1401C) ( ENST00000647015.1, ENST00000642271.1, ENST00000302539.9, ENST00000644772.1, ENST00000646902.1, ENST00000643260.1, ENST00000684571.1, ENST00000389817.8, ENST00000683136.1 )
ABCC8 p.Arg1401Ser (p.R1401S) ( ENST00000302539.9, ENST00000644772.1, ENST00000646902.1, ENST00000643260.1, ENST00000684571.1, ENST00000389817.8, ENST00000683136.1, ENST00000647015.1, ENST00000642271.1 )
ABCC8 p.Arg1204Leu (p.R1204L) ( ENST00000683136.1, ENST00000647015.1, ENST00000642271.1, ENST00000302539.9, ENST00000646902.1, ENST00000644772.1, ENST00000643260.1, ENST00000389817.8, ENST00000684571.1 )
ABCC8 p.Arg1204Gln (p.R1204Q) ( ENST00000684571.1, ENST00000389817.8, ENST00000643260.1, ENST00000644772.1, ENST00000646902.1, ENST00000302539.9, ENST00000642271.1, ENST00000647015.1, ENST00000683136.1 )
ABCC8 p.Phe1203Cys (p.F1203C) ( ENST00000642271.1, ENST00000647015.1, ENST00000683136.1, ENST00000389817.8, ENST00000684571.1, ENST00000643260.1, ENST00000646902.1, ENST00000644772.1, ENST00000302539.9 )
ABCC8 p.Val1195Met (p.V1195M) ( ENST00000302539.9, ENST00000644772.1, ENST00000646902.1, ENST00000643260.1, ENST00000684571.1, ENST00000389817.8, ENST00000683136.1, ENST00000647015.1, ENST00000642271.1 )
ABCC8 p.Tyr539Cys (p.Y539C) ( ENST00000683136.1, ENST00000647015.1, ENST00000642271.1, ENST00000302539.9, ENST00000644772.1, ENST00000646902.1, ENST00000643260.1, ENST00000684571.1, ENST00000389817.8 )
ABCC8 p.Phe536Leu (p.F536L) ( ENST00000647015.1, ENST00000683136.1, ENST00000642271.1, ENST00000644772.1, ENST00000646902.1, ENST00000302539.9, ENST00000684571.1, ENST00000389817.8, ENST00000643260.1 )
ABCC8 p.Gly296Arg (p.G296R) ( ENST00000646902.1, ENST00000644772.1, ENST00000302539.9, ENST00000389817.8, ENST00000684571.1, ENST00000643260.1, ENST00000647015.1, ENST00000683136.1, ENST00000642271.1 )
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.Val1561Met (p.V1561M) ( ENST00000302539.9, ENST00000389817.8, ENST00000642271.1, ENST00000643260.1, ENST00000644772.1, ENST00000646902.1, ENST00000647015.1, ENST00000683136.1, ENST00000684571.1 )
ABCC8 p.Val1544Met (p.V1544M) ( ENST00000302539.9, ENST00000389817.8, ENST00000642271.1, ENST00000643260.1, ENST00000644772.1, ENST00000646902.1, ENST00000647015.1, ENST00000683136.1, ENST00000684571.1 )
ABCC8 p.Ile1540Ser (p.I1540S) ( ENST00000302539.9, ENST00000389817.8, ENST00000642271.1, ENST00000643260.1, ENST00000644772.1, ENST00000646902.1, ENST00000647015.1, ENST00000683136.1, ENST00000684571.1 )
ABCC8 p.Ile1478= (p.I1478=) ( ENST00000302539.9, ENST00000389817.8, ENST00000642271.1, ENST00000643260.1, ENST00000644772.1, ENST00000646902.1, ENST00000647015.1, ENST00000683136.1, ENST00000684571.1 )
ABCC8 p.Ile1478Met (p.I1478M) ( ENST00000302539.9, ENST00000389817.8, ENST00000642271.1, ENST00000643260.1, ENST00000644772.1, ENST00000646902.1, ENST00000647015.1, ENST00000683136.1, ENST00000684571.1 )
ABCC8 p.Arg1401Leu (p.R1401L) ( ENST00000302539.9, ENST00000389817.8, ENST00000642271.1, ENST00000643260.1, ENST00000644772.1, ENST00000646902.1, ENST00000647015.1, ENST00000683136.1, ENST00000684571.1 )
ABCC8 p.Arg1401Cys (p.R1401C) ( ENST00000302539.9, ENST00000389817.8, ENST00000642271.1, ENST00000643260.1, ENST00000644772.1, ENST00000646902.1, ENST00000647015.1, ENST00000683136.1, ENST00000684571.1 )
ABCC8 p.Arg1401Ser (p.R1401S) ( ENST00000302539.9, ENST00000389817.8, ENST00000642271.1, ENST00000643260.1, ENST00000644772.1, ENST00000646902.1, ENST00000647015.1, ENST00000683136.1, ENST00000684571.1 )
ABCC8 p.Arg1204Leu (p.R1204L) ( ENST00000302539.9, ENST00000389817.8, ENST00000642271.1, ENST00000643260.1, ENST00000644772.1, ENST00000646902.1, ENST00000647015.1, ENST00000683136.1, ENST00000684571.1 )
ABCC8 p.Arg1204Gln (p.R1204Q) ( ENST00000302539.9, ENST00000389817.8, ENST00000642271.1, ENST00000643260.1, ENST00000644772.1, ENST00000646902.1, ENST00000647015.1, ENST00000683136.1, ENST00000684571.1 )
ABCC8 p.Phe1203Cys (p.F1203C) ( ENST00000302539.9, ENST00000389817.8, ENST00000642271.1, ENST00000643260.1, ENST00000644772.1, ENST00000646902.1, ENST00000647015.1, ENST00000683136.1, ENST00000684571.1 )
ABCC8 p.Val1195Met (p.V1195M) ( ENST00000302539.9, ENST00000389817.8, ENST00000642271.1, ENST00000643260.1, ENST00000644772.1, ENST00000646902.1, ENST00000647015.1, ENST00000683136.1, ENST00000684571.1 )
ABCC8 p.Tyr539Cys (p.Y539C) ( ENST00000302539.9, ENST00000389817.8, ENST00000642271.1, ENST00000643260.1, ENST00000644772.1, ENST00000646902.1, ENST00000647015.1, ENST00000683136.1, ENST00000684571.1 )
ABCC8 p.Phe536Leu (p.F536L) ( ENST00000302539.9, ENST00000389817.8, ENST00000642271.1, ENST00000643260.1, ENST00000644772.1, ENST00000646902.1, ENST00000647015.1, ENST00000683136.1, ENST00000684571.1 )
ABCC8 p.Gly296Arg (p.G296R) ( 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 ) - Associated Disease
- Neonatal diabetes mellitus
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.133029209859855
- Year of publication
- NA
Drugs