Variant ID: 16-89986288-G-C

NM_002386.3(MC1R):c.622G>C;(p.Val208Leu)

This variant was identified in 1 publication




Publications:


The role of the melanoma gene MC1R in Parkinson disease and REM sleep behavior disorder.

Neurobiology Of Aging
Z Gan-Or, N Mohsin, SL Girard, JY Montplaisir, A Ambalavanan, S Strong, V Mallett, SB Laurent, CV Bourassa, M Boivin, M Langlois, I Arnulf, B Högl, B Frauscher, C Monaca, A Desautels, JF Gagnon, RB Postuma, PA Dion, Y Dauvilliers, N Dupre, RN Alcalay, GA Rouleau
Publication Date: 2016-07

Variant appearance in text: MC1R: 622G>C; V208L
PubMed Link: 27131830
PubMed Central Link
Variant Present in the following documents:
  • NIHMS776338-supplement-1.docx
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000540694.1 n.968G>C - non_coding_transcript_exon_variant 2/2 -
ENST00000554623.1 n.932C>G - non_coding_transcript_exon_variant 2/2 -
ENST00000555147.1 c.622G>C p.Val208Leu missense_variant 1/1 -
ENST00000555427.1 c.622G>C p.Val208Leu missense_variant 3/4 -
ENST00000556922.1 c.622G>C p.Val208Leu missense_variant 1/5 -
NM_002386.3 c.622G>C p.Val208Leu missense_variant 1/1 -