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 -