MC1R c.720T>C ;(p.A240=)

Variant ID: 16-89986386-T-C

NM_002386.3(MC1R):c.720T>C;(p.A240=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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

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

Variant appearance in text: MC1R: A240A
PubMed Link: 20876876
Variant Present in the following documents:
  • Main text
  • supp_djq363_JNCI-09-1449R-Suppl_tables.pdf
  • djq363.pdf
View BVdb publication page



Nucleotide diversity and population differentiation of the melanocortin 1 receptor gene, MC1R.

Bmc Genetics
Savage, Sharon A SA; Gerstenblith, Meg R MR; Goldstein, Alisa M AM; Mirabello, Lisa L; Fargnoli, Maria Concetta MC; Peris, Ketty K; Landi, Maria Teresa MT
Publication Date: 2008-04-10

Variant appearance in text: MC1R: 720T>C; A240A
PubMed Link: 18402696
Variant Present in the following documents:
  • Main text
  • 1471-2156-9-31.pdf
View BVdb publication page