Annotation Detail
Information
- Associated Genes
- LEP
- Associated Variants
-
LEP p.Asn103Lys (p.N103K)
(
ENST00000308868.5 )
LEP p.Asn103Lys (p.N103K) ( ENST00000308868.5 )
LEP p.Asn103= (p.N103=) ( ENST00000308868.5 )
LEP p.Asn103Lys (p.N103K) ( ENST00000308868.5 )
LEP p.Asn103Lys (p.N103K) ( ENST00000308868.5 )
LEP p.Asn103= (p.N103=) ( ENST00000308868.5 ) - Associated Disease
- obesity
- Source Database
- DisGeNET
- Description
- Severe Early-Onset Obesity Due to Bioinactive Leptin Caused by a p.N103K Mutation in the Leptin Gene.
- Pubmed
- 26186301
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.44
- Year of publication
- 2015
Drugs