PMID: 24588892

Dermoscopic features of cutaneous melanoma are associated with clinical characteristics of patients and tumours and with MC1R genotype.

Journal of the European Academy of Dermatology and Venereology : JEADV
MC Fargnoli, F Sera, M Suppa, D Piccolo, MT Landi, A Chiarugi, C Pellegrini, S Seidenari, K Peris

12 variants were identified in this publication

Variant ID Gene cDNA Protein Consequence Exon Intron
16-89986608-A-T MC1R c.942A>T p.Thr314Thr Synonymous 1/1 -
16-89986609-T-C MC1R c.943T>C p.Cys315Arg Missense 1/1 -
16-89985913-T-C MC1R c.247T>C p.Ser83Pro Missense 1/1 -
16-89986503-C-A MC1R c.837C>A p.Asn279Lys Missense 1/1 -
16-89986365-G-A MC1R c.699G>A p.Gln233Gln Synonymous 1/1 -
16-89986608-A-G MC1R c.942A>G p.Thr314Thr Synonymous 1/1 -
16-89986608-A-C MC1R c.942A>C p.Thr314Thr Synonymous 1/1 -
16-89985950-C-T MC1R c.284C>T p.Thr95Met Missense 1/1 -
16-89986303-C-T MC1R c.637C>T p.Arg213Trp Missense 1/1 -
16-89986130-T-C MC1R c.464T>C p.Ile155Thr Missense 1/1 -
16-89986122-C-A MC1R c.456C>A p.Tyr152* Nonsense 1/1 -
16-89985998-C-T MC1R c.332C>T p.Ala111Val Missense 1/1 -