PMID: 30872112

MC1R variants in childhood and adolescent melanoma: a retrospective pooled analysis of a multicentre cohort.

The Lancet. Child & adolescent health
C Pellegrini, F Botta, D Massi, C Martorelli, F Facchetti, S Gandini, P Maisonneuve, MF Avril, F Demenais, B Bressac-de Paillerets, V Hoiom, AE Cust, H Anton-Culver, SB Gruber, RP Gallagher, L Marrett, R Zanetti, T Dwyer, NE Thomas, CB Begg, M Berwick, S Puig, M Potrony, E Nagore, P Ghiorzo, C Menin, AM Manganoni, M Rodolfo, S Brugnara, E Passoni, LK Sekulovic, F Baldini, G Guida, A Stratigos, F Ozdemir, F Ayala, R Fernandez-de-Misa, P Quaglino, G Ribas, A Romanini, E Migliano, I Stanganelli, PA Kanetsky, MA Pizzichetta, JC García-Borrón, H Nan, MT Landi, J Little, J Newton-Bishop, F Sera, MC Fargnoli, S Raimondi, , ,
2019-05

19 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
16-89985940-G-A MC1R c.274G>A p.Val92Met Missense 1/1 -
16-89986438-T-C MC1R c.772T>C p.Phe258Leu Missense 1/1 -
16-89986546-G-C MC1R c.880G>C p.Asp294His Missense 1/1 -
16-89986440-C-G MC1R c.774C>G p.Phe258Leu Missense 1/1 -
16-89985950-C-T MC1R c.284C>T p.Thr95Met Missense 1/1 -
16-89985918-C-A MC1R c.252C>A p.Asp84Glu Missense 1/1 -
16-89986318-G-A MC1R c.652G>A p.Ala218Thr Missense 1/1 -
16-89986117-C-T MC1R c.451C>T p.Arg151Cys Missense 1/1 -
16-89986144-C-T MC1R c.478C>T p.Arg160Trp Missense 1/1 -
16-89986154-G-A MC1R c.488G>A p.Arg163Gln Missense 1/1 -
16-89986130-T-C MC1R c.464T>C p.Ile155Thr Missense 1/1 -
16-89986440-C-A MC1R c.774C>A p.Phe258Leu Missense 1/1 -
16-89986118-G-A MC1R c.452G>A p.Arg151His Missense 1/1 -
16-89985918-C-G MC1R c.252C>G p.Asp84Glu Missense 1/1 -
16-89985818-T-C MC1R c.152T>C p.Val51Ala Missense 1/1 -
16-89986030-G-A MC1R c.364G>A p.Val122Met Missense 1/1 -
16-89986091-G-A MC1R c.425G>A p.Arg142His Missense 1/1 -
16-89985844-G-T MC1R c.178G>T p.Val60Leu Missense 1/1 -
16-89986498-A-G MC1R c.832A>G p.Lys278Glu Missense 1/1 -