PMID: 32780924

MC1R variants in relation to naevi in melanoma cases and controls: a pooled analysis from the M-SKIP project.

Journal of the European Academy of Dermatology and Venereology : JEADV

I Stefanaki, AJ Stratigos, KP Kypreou, E Evangelou, S Gandini, P Maisonneuve, D Polsky, D Lazovich, J Newton-Bishop, PA Kanetsky, S Puig, NA Gruis, P Ghiorzo, C Pellegrini, A De Nicolo, G Ribas, G Guida, JC Garcia-Borron, MC Fargnoli, H Nan, MT Landi, J Little, F Sera, S Raimondi,

2020-08-11

9 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	-
16-89986117-C-T	MC1R	c.451C>T	p.Arg151Cys	Missense	1/1	-
16-89986546-G-C	MC1R	c.880G>C	p.Asp294His	Missense	1/1	-
16-89985940-G-A	MC1R	c.274G>A	p.Val92Met	Missense	1/1	-
16-89986154-G-A	MC1R	c.488G>A	p.Arg163Gln	Missense	1/1	-
16-89986144-C-T	MC1R	c.478C>T	p.Arg160Trp	Missense	1/1	-
16-89985844-G-T	MC1R	c.178G>T	p.Val60Leu	Missense	1/1	-
16-89986091-G-A	MC1R	c.425G>A	p.Arg142His	Missense	1/1	-
16-89985918-C-G	MC1R	c.252C>G	p.Asp84Glu	Missense	1/1	-