Annotation Detail
Information
- Associated Genes
- ABCC8
- Associated Variants
-
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.Arg1204Trp (p.R1204W) ( ENST00000643260.1, ENST00000389817.8, ENST00000684571.1, ENST00000302539.9, ENST00000646902.1, ENST00000644772.1, ENST00000642271.1, ENST00000683136.1, ENST00000647015.1 )
ABCC8 p.Leu582Val (p.L582V) ( ENST00000683136.1, ENST00000647015.1, ENST00000642271.1, ENST00000302539.9, ENST00000644772.1, ENST00000646902.1, ENST00000643260.1, ENST00000684571.1, ENST00000389817.8 )
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.Arg1204Trp (p.R1204W) ( ENST00000302539.9, ENST00000389817.8, ENST00000642271.1, ENST00000643260.1, ENST00000644772.1, ENST00000646902.1, ENST00000647015.1, ENST00000683136.1, ENST00000684571.1 )
ABCC8 p.Leu582Val (p.L582V) ( ENST00000302539.9, ENST00000389817.8, ENST00000642271.1, ENST00000643260.1, ENST00000644772.1, ENST00000646902.1, ENST00000647015.1, ENST00000683136.1, ENST00000684571.1 ) - Associated Disease
- DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder)
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.44
- Year of publication
- NA
Drugs