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

2014-12

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	-