Annotation Detail
Information
- Associated Genes
- ABCC8
- Associated Variants
-
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.Gly296Arg (p.G296R) ( ENST00000302539.9, ENST00000389817.8, ENST00000642271.1, ENST00000643260.1, ENST00000644772.1, ENST00000646902.1, ENST00000647015.1, ENST00000683136.1, ENST00000684571.1 ) - Associated Disease
- diabetes mellitus
- Source Database
- DisGeNET
- Description
- Here, we report a case of diabetes in a 7-mo old child with compound heterozygous mutations in ABCC8 (SUR1[A30V] and SUR1[G296R]).
- Pubmed
- 22562119
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0207689974532702
- Year of publication
- 2012
Drugs