Variant ID: 16-89986131-C-T

NM_002386.3(MC1R):c.465C>T;(p.Ile155Ile)

This variant was identified in 4 publications




Publications:


The next generation of metastatic melanoma: uncovering the genetic variants for anti-BRAF therapy response.

Oncotarget
R Pinto, S De Summa, S Strippoli, B Pilato, A Azzariti, G Guida, M Guida, S Tommasi
Publication Date: 2016-05-03

Variant appearance in text: MC1R: 465C>T
PubMed Link: 26863566
PubMed Central Link
Variant Present in the following documents:
  • oncotarget-07-25135-s002.doc
View BVdb publication page



Genetic factors associated with naevus count and dermoscopic patterns: preliminary results from the Study of Nevi in Children (SONIC).

The British Journal Of Dermatology
I Orlow, JM Satagopan, M Berwick, HL Enriquez, KA White, K Cheung, SW Dusza, SA Oliveria, MA Marchetti, A Scope, AA Marghoob, AC Halpern
Publication Date: 2015-04

Variant appearance in text: MC1R: I155I; rs374878766
PubMed Link: 25307738
PubMed Central Link
Variant Present in the following documents:
  • bjd0172-1081-sd1.pdf
View BVdb publication page



Does MC1R genotype convey information about melanoma risk beyond risk phenotypes?

Cancer
PA Kanetsky, S Panossian, DE Elder, D Guerry, ME Ming, L Schuchter, TR Rebbeck
Publication Date: 2010-05-15

Variant appearance in text: N/A
PubMed Link: 20301115
PubMed Central Link
Variant Present in the following documents:
View BVdb publication page



Melanocortin receptor 1 variants and melanoma risk: a study of 2 European populations.

International Journal Of Cancer
D Scherer, E Nagore, JL Bermejo, A Figl, R Botella-Estrada, RK Thirumaran, S Angelini, K Hemminki, D Schadendorf, R Kumar
Publication Date: 2009-10-15

Variant appearance in text: MC1R: 465C>T; I155I
PubMed Link: 19585506
PubMed Central Link
Variant Present in the following documents:
  • Main text
  • Supplemental file
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000540694.1 n.811C>T - non_coding_transcript_exon_variant 2/2 -
ENST00000555147.1 c.465C>T p.Ile155= synonymous_variant 1/1 -
ENST00000555427.1 c.465C>T p.Ile155= synonymous_variant 3/4 -
ENST00000556922.1 c.465C>T p.Ile155= synonymous_variant 1/5 -
NM_002386.3 c.465C>T p.Ile155= synonymous_variant 1/1 -