PMID: 27394708

A novel MC4R deletion coexisting with FTO and MC1R gene variants, causes severe early onset obesity.

Hormones (Athens, Greece)
V Neocleous, C Shammas, MM Phelan, P Fanis, M Pantelidou, N Skordis, C Mantzoros, LA Phylactou, M Toumba
2016-07

4 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
16-89985918-C-A MC1R c.252C>A p.Asp84Glu Missense 1/1 -
18-58038938-ACAT-A MC4R c.643_645delATG p.Met215delMet InFrameDeletion 1/1 -
16-89985918-C-G MC1R c.252C>G p.Asp84Glu Missense 1/1 -
16-89985844-G-T MC1R c.178G>T p.Val60Leu Missense 1/1 -