Variant ID: 16-89986287-C-T

NM_002386.3(MC1R):c.621C>T;(p.Tyr207Tyr)

This variant was identified in 3 publications




Publications:


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: Y207Y
PubMed Link: 25307738
PubMed Central Link
Variant Present in the following documents:
  • bjd0172-1081-sd1.pdf
View BVdb publication page



A large French case-control study emphasizes the role of rare Mc1R variants in melanoma risk.

Biomed Research International
HH Hu, M Benfodda, N Dumaz, S Gazal, V Descamps, A Bourillon, N Basset-Seguin, A Riffault, K Ezzedine, M Bagot, A Bensussan, P Saiag, B Grandchamp, N Soufir
Publication Date: 2014

Variant appearance in text: MC1R: 621C>T; Y207Y
PubMed Link: 24982914
PubMed Central Link
Variant Present in the following documents:
  • Main text
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: 621C>T; Y207Y
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.967C>T - non_coding_transcript_exon_variant 2/2 -
ENST00000554623.1 n.933G>A - non_coding_transcript_exon_variant 2/2 -
ENST00000555147.1 c.621C>T p.Tyr207= synonymous_variant 1/1 -
ENST00000555427.1 c.621C>T p.Tyr207= synonymous_variant 3/4 -
ENST00000556922.1 c.621C>T p.Tyr207= synonymous_variant 1/5 -
NM_002386.3 c.621C>T p.Tyr207= synonymous_variant 1/1 -