Annotation Detail
Information
- Associated Genes
- KCNJ11
- Associated Variants
-
KCNJ11 p.Val64Leu (p.V64L)
(
ENST00000528731.1,
ENST00000682764.1,
ENST00000682350.1,
ENST00000339994.5 )
KCNJ11 p.Phe60Tyr (p.F60Y) ( ENST00000339994.5, ENST00000682350.1, ENST00000682764.1, ENST00000528731.1 )
KCNJ11 p.Val64Leu (p.V64L) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 )
KCNJ11 p.Phe60Tyr (p.F60Y) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 ) - Associated Disease
- epilepsy
- Source Database
- DisGeNET
- Description
- We report two novel mutations on the same haplotype (cis), F60Y and V64L, in the slide helix of Kir6.2 in a patient with neonatal diabetes, developmental delay and epilepsy.
- Pubmed
- 20022885
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0103445857040439
- Year of publication
- 2010
Drugs