PMID: 28746718

Association of Incident Amelanotic Melanoma With Phenotypic Characteristics, MC1R Status, and Prior Amelanotic Melanoma.

JAMA dermatology
S Vernali, WT Waxweiler, PM Dillon, PA Kanetsky, I Orlow, L Luo, KJ Busam, A Kricker, BK Armstrong, H Anton-Culver, SB Gruber, RP Gallagher, R Zanetti, S Rosso, L Sacchetto, T Dwyer, AE Cust, DW Ollila, CB Begg, M Berwick, NE Thomas,

5 variants were identified in this publication

Variant ID Gene cDNA Protein Consequence Exon Intron
16-89985918-C-G MC1R c.252C>G p.Asp84Glu Missense 1/1 -
16-89985918-C-A MC1R c.252C>A p.Asp84Glu Missense 1/1 -
16-89986091-G-A MC1R c.425G>A p.Arg142His Missense 1/1 -
16-89986144-C-T MC1R c.478C>T p.Arg160Trp Missense 1/1 -
16-89986546-G-C MC1R c.880G>C p.Asp294His Missense 1/1 -