Variant ID: 16-89986566-C-T

NM_002386.3(MC1R):c.900C>T;(p.Phe300Phe)

This variant was identified in 13 publications




Publications:


MC1R variants and associations with pigmentation characteristics and genetic ancestry in a Hispanic, predominately Puerto Rican, population.

Scientific Reports
AK Smit, M Collazo-Roman, ST Vadaparampil, S Valavanis, J Del Rio, B Soto, I Flores, J Dutil, PA Kanetsky
Publication Date: 2020-04-29

Variant appearance in text: MC1R: F300F; rs3212367
PubMed Link: 32350296
PubMed Central Link
Variant Present in the following documents:
  • Main text
  • Supplemental file
View BVdb publication page



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: 900C>T; F300F; rs3212367
PubMed Link: 27131830
PubMed Central Link
Variant Present in the following documents:
  • NIHMS776338-supplement-1.docx
View BVdb publication page



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: rs3212367
PubMed Link: 26677074
PubMed Central Link
Variant Present in the following documents:
  • NIHMS746220-supplement-Supp_Table_S1.docx
View BVdb publication page



Feasibility of a bilateral 4000-6000 Hz notch as a phenotype for genetic association analysis.

International Journal Of Audiology
SL Phillips, SJ Richter, SL Teglas, IS Bhatt, RC Morehouse, ER Hauser, VC Henrich
Publication Date: 2015

Variant appearance in text: rs3212367
PubMed Link: 25938503
PubMed Central Link
Variant Present in the following documents:
  • NIHMS761765-supplement-Supplementary_Table_S1.docx
  • NIHMS761765-supplement-Supplementary_Table_S3.docx
View BVdb publication page



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: rs3212367
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: 900C>T; F300F; rs3212367
PubMed Link: 24982914
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Simultaneous purifying selection on the ancestral MC1R allele and positive selection on the melanoma-risk allele V60L in south Europeans.

Molecular Biology And Evolution
C Martínez-Cadenas, S López, G Ribas, C Flores, O García, A Sevilla, I Smith-Zubiaga, M Ibarrola-Villaba, Mdel M Pino-Yanes, J Gardeazabal, D Boyano, A García de Galdeano, N Izagirre, C de la Rúa, S Alonso
Publication Date: 2013-12

Variant appearance in text: MC1R: F300F
PubMed Link: 24045876
PubMed Central Link
Variant Present in the following documents:
  • Main text
  • Supplemental file
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: 900C>T; Phe300Phe; rs3212367
PubMed Link: 23360207
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



MC1R genotypes and risk of melanoma before age 40 years: a population-based case-control-family study.

International Journal Of Cancer
AE Cust, C Goumas, EA Holland, C Agha-Hamilton, JF Aitken, BK Armstrong, GG Giles, RF Kefford, H Schmid, JL Hopper, GJ Mann, MA Jenkins
Publication Date: 2012-08-01

Variant appearance in text: MC1R: F300F
PubMed Link: 22095472
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: MC1R: 900C>T; F300F
PubMed Link: 18402696
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



MC1R: three novel variants identified in a malignant melanoma association study in the Spanish population.

Carcinogenesis
L Fernandez, R Milne, J Bravo, J Lopez, J Avilés, M Longo, J Benítez, P Lázaro, G Ribas
Publication Date: 2007-08

Variant appearance in text: MC1R: F300F
PubMed Link: 17434924
PubMed Central Link
Variant Present in the following documents:
  • Main text
  • Supplemental file
View BVdb publication page



MC1R common variants, CDKN2A and their association with melanoma and breast cancer risk.

International Journal Of Cancer
T Debniak, R Scott, B Masojc, P Serrano-Fernández, T Huzarski, T Byrski, B Debniak, B Górski, C Cybulski, K Medrek, G Kurzawski, T van de Wetering, R Maleszka, J Kładny, J Lubinski
Publication Date: 2006-12-01

Variant appearance in text: MC1R: F300F
PubMed Link: 16988943
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evidence for variable selective pressures at MC1R.

American Journal Of Human Genetics
RM Harding, E Healy, AJ Ray, NS Ellis, N Flanagan, C Todd, C Dixon, A Sajantila, IJ Jackson, MA Birch-Machin, JL Rees
Publication Date: 2000-04

Variant appearance in text: MC1R: Phe300Phe
PubMed Link: 10733465
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.1246C>T - non_coding_transcript_exon_variant 2/2 -
ENST00000554623.1 n.654G>A - non_coding_transcript_exon_variant 2/2 -
ENST00000555147.1 c.900C>T p.Phe300= synonymous_variant 1/1 -
ENST00000555427.1 c.900C>T p.Phe300= synonymous_variant 3/4 -
ENST00000556922.1 c.900C>T p.Phe300= synonymous_variant 1/5 -
NM_002386.3 c.900C>T p.Phe300= synonymous_variant 1/1 -