PMID: 20876876

Association of MC1R variants and host phenotypes with melanoma risk in CDKN2A mutation carriers: a GenoMEL study.

Journal of the National Cancer Institute
F Demenais, H Mohamdi, V Chaudru, AM Goldstein, JA Newton Bishop, DT Bishop, PA Kanetsky, NK Hayward, E Gillanders, DE Elder, MF Avril, E Azizi, P van Belle, W Bergman, G Bianchi-Scarrà, B Bressac-de Paillerets, D Calista, C Carrera, J Hansson, M Harland, D Hogg, V Höiom, EA Holland, C Ingvar, MT Landi, JM Lang, RM Mackie, GJ Mann, ME Ming, CJ Njauw, H Olsson, J Palmer, L Pastorino, S Puig, J Randerson-Moor, M Stark, H Tsao, MA Tucker, P van der Velden, XR Yang, N Gruis,
2010-10-20

26 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
16-89986030-G-A MC1R c.364G>A p.Val122Met Missense 1/1 -
16-89985914-C-T MC1R c.248C>T p.Ser83Leu Missense 1/1 -
16-89986178-C-G MC1R c.512C>G p.Ala171Gly Missense 1/1 -
16-89985768-G-C MC1R c.102G>C p.Arg34Arg Synonymous 1/1 -
16-89986608-A-T MC1R c.942A>T p.Thr314Thr Synonymous 1/1 -
16-89986065-C-T MC1R c.399C>T p.Cys133Cys Synonymous 1/1 -
16-89985913-T-C MC1R c.247T>C p.Ser83Pro Missense 1/1 -
16-89986303-C-A MC1R c.637C>A p.Arg213Arg Synonymous 1/1 -
16-89986305-G-A MC1R c.639G>A p.Arg213Arg Synonymous 1/1 -
16-89986305-G-C MC1R c.639G>C p.Arg213Arg Synonymous 1/1 -
16-89986305-G-T MC1R c.639G>T p.Arg213Arg Synonymous 1/1 -
16-89986365-G-A MC1R c.699G>A p.Gln233Gln Synonymous 1/1 -
16-89986319-C-G MC1R c.653C>G p.Ala218Gly Missense 1/1 -
16-89985950-C-T MC1R c.284C>T p.Thr95Met Missense 1/1 -
16-89985710-A-G MC1R c.44A>G p.Asn15Ser Missense 1/1 -
16-89986501-A-G MC1R c.835A>G p.Asn279Asp Missense 1/1 -
16-89986318-G-A MC1R c.652G>A p.Ala218Thr Missense 1/1 -
16-89986252-T-C MC1R c.586T>C p.Phe196Leu Missense 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 -
16-89986458-C-T MC1R c.792C>T p.Ile264Ile Synonymous 1/1 -
16-89986328-T-C MC1R c.662T>C p.Ile221Thr Missense 1/1 -
16-89986386-T-C MC1R c.720T>C p.Ala240Ala Synonymous 1/1 -
16-89986122-C-A MC1R c.456C>A p.Tyr152* Nonsense 1/1 -
16-89986049-T-A MC1R c.383T>A p.Met128Lys Missense 1/1 -
16-89986614-C-T MC1R c.948C>T p.Ser316Ser Synonymous 1/1 -