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
- Hyperphagia
- Source Database
- DisGeNET
- Description
- We now describe two siblings, a 9-year-old girl and a 6-year-old boy with severe early-onset obesity and hyperphagia, both homozygous for a c.309C>A substitution in the leptin gene leading to a p.N103K amino acid exchange in the protein and detectable circulating levels of leptin.
- Pubmed
- 26186301
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.122442976848723
- Year of publication
- 2015
Drugs