Variant ID: 16-89985871-C-G

NM_002386.3(MC1R):c.205C>G;(p.Leu69Val)

This variant was identified in 1 publication




Publications:


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: 205C>G; L69V
PubMed Link: 24982914
PubMed Central Link
Variant Present in the following documents:
  • Main text
  • 925716.f1.pdf
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000540694.1 n.551C>G - non_coding_transcript_exon_variant 2/2 -
ENST00000555147.1 c.205C>G p.Leu69Val missense_variant 1/1 -
ENST00000555427.1 c.205C>G p.Leu69Val missense_variant 3/4 -
ENST00000556922.1 c.205C>G p.Leu69Val missense_variant 1/5 -
NM_002386.3 c.205C>G p.Leu69Val missense_variant 1/1 -