Annotation Detail
Information
- Associated Genes
- ABCC8
- Associated Variants
-
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.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
- Developmental Delay, Epilepsy, and Neonatal Diabetes
- Source Database
- DisGeNET
- Description
- We identified a novel heterozygous mutation, F132L, in the ABCC8 gene of a patient with severe developmental delay, epilepsy and neonatal diabetes (DEND syndrome).
- Pubmed
- 16613899
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00108576748832121
- Year of publication
- 2006
Drugs