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	-