Variant ID: 16-89986356-G-C

NM_002386.3(MC1R):c.690G>C;(p.Pro230Pro)

This variant was identified in 4 publications




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: 690G>C; P230P
PubMed Link: 24982914
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Nucleotide diversity and population differentiation of the melanocortin 1 receptor gene, MC1R.

Bmc Genetics
SA Savage, MR Gerstenblith, AM Goldstein, L Mirabello, MC Fargnoli, K Peris, MT Landi
Publication Date: 2008-04-10

Variant appearance in text: N/A
PubMed Link: 18402696
PubMed Central Link
Variant Present in the following documents:
View BVdb publication page



Melanocortin 1 receptor (MC1R) gene variants are associated with an increased risk for cutaneous melanoma which is largely independent of skin type and hair color.

The Journal Of Investigative Dermatology
C Kennedy, J ter Huurne, M Berkhout, N Gruis, M Bastiaens, W Bergman, R Willemze, JN Bavinck
Publication Date: 2001-08

Variant appearance in text: N/A
PubMed Link: 11511307
PubMed Central Link
Variant Present in the following documents:
View BVdb publication page



Melanocortin-1 receptor gene variants determine the risk of nonmelanoma skin cancer independently of fair skin and red hair.

American Journal Of Human Genetics
MT Bastiaens, JA ter Huurne, C Kielich, NA Gruis, RG Westendorp, BJ Vermeer, JN Bavinck,
Publication Date: 2001-04

Variant appearance in text: N/A
PubMed Link: 11254446
PubMed Central Link
Variant Present in the following documents:
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000540694.1 n.1036G>C - non_coding_transcript_exon_variant 2/2 -
ENST00000554623.1 n.864C>G - non_coding_transcript_exon_variant 2/2 -
ENST00000555147.1 c.690G>C p.Pro230= synonymous_variant 1/1 -
ENST00000555427.1 c.690G>C p.Pro230= synonymous_variant 3/4 -
ENST00000556922.1 c.690G>C p.Pro230= synonymous_variant 1/5 -
NM_002386.3 c.690G>C p.Pro230= synonymous_variant 1/1 -