Variant ID: 16-89986242-C-G

NM_002386.3(MC1R):c.576C>G;(p.Leu192Leu)

This variant was identified in 2 publications




Publications:


Rare variants in MC1R/TUBB3 exon 1 are not associated with Parkinson's disease.

Annals Of Neurology
O Lorenzo-Betancor, ZK Wszolek, OA Ross
Publication Date: 2016-02

Variant appearance in text: rs566784469
PubMed Link: 26677074
PubMed Central Link
Variant Present in the following documents:
  • NIHMS746220-supplement-Supp_Table_S1.docx
View BVdb publication page



Variants in melanocortin 1 receptor gene contribute to risk of melanoma--a direct sequencing analysis in a Texas population.

Pigment Cell & Melanoma Research
X Guan, J Niu, Z Liu, LE Wang, CI Amos, JE Lee, JE Gershenwald, EA Grimm, Q Wei
Publication Date: 2013-05

Variant appearance in text: MC1R: 576C>G; leu192Leu
PubMed Link: 23360207
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000540694.1 n.922C>G - non_coding_transcript_exon_variant 2/2 -
ENST00000554623.1 n.978G>C - non_coding_transcript_exon_variant 2/2 -
ENST00000555147.1 c.576C>G p.Leu192= synonymous_variant 1/1 -
ENST00000555427.1 c.576C>G p.Leu192= synonymous_variant 3/4 -
ENST00000556922.1 c.576C>G p.Leu192= synonymous_variant 1/5 -
NM_002386.3 c.576C>G p.Leu192= synonymous_variant 1/1 -