PMID: 28146043

Characterization of melanoma susceptibility genes in high-risk patients from Central Italy.

Melanoma research
C Pellegrini, MG Maturo, C Martorelli, M Suppa, A Antonini, D Kostaki, L Verna, MT Landi, K Peris, MC Fargnoli
2017-06

17 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
16-89985844-G-T MC1R c.178G>T p.Val60Leu Missense 1/1 -
16-89985918-C-A MC1R c.252C>A p.Asp84Glu Missense 1/1 -
3-69788840-C-T MITF c.92C>T p.Pro31Leu Missense 1/10 -
9-21971182-A-G CDKN2A c.176T>C p.Val59Ala Missense 2/3 -
9-21971109-G-T CDKN2A c.249C>A p.His83Gln Missense 2/3 -
16-89986546-G-C MC1R c.880G>C p.Asp294His Missense 1/1 -
9-21971063-G-T CDKN2A c.295C>A p.Arg99Arg Synonymous 2/3 -
9-21970971-G-A CDKN2A c.387C>T p.Tyr129Tyr Synonymous 2/3 -
9-21971146-T-A CDKN2A c.212A>T p.Asn71Ile Missense 2/3 -
16-89986130-T-C MC1R c.464T>C p.Ile155Thr Missense 1/1 -
9-21971057-C-A CDKN2A c.301G>T p.Gly101Trp Missense 2/3 -
9-21971109-G-C CDKN2A c.249C>G p.His83Gln Missense 2/3 -
9-21971017-G-A CDKN2A c.341C>T p.Pro114Leu Missense 2/3 -
9-21970916-C-T CDKN2A c.442G>A p.Ala148Thr Missense 2/3 -
16-89985918-C-G MC1R c.252C>G p.Asp84Glu Missense 1/1 -
9-21971191-C-A CDKN2A c.167G>T p.Ser56Ile Missense 2/3 -
16-89986091-G-A MC1R c.425G>A p.Arg142His Missense 1/1 -