present in Gene: MC4R
present in Chromosome: 18
Position on Chromosome: 60372245
Alleles of this Variant: G/T
rs13447324 in
MC4R gene and
Body mass index
PMID 29273807 2018 Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.
rs13447324 in
MC4R gene and
Obesity
PMID 15486053 2005 Prevalence of mutations and functional analyses of melanocortin 4 receptor variants identified among 750 men with juvenile-onset obesity.
PMID 12970296 2003 Melanocortin-4 receptor gene: case-control study and transmission disequilibrium test confirm that functionally relevant mutations are compatible with a major gene effect for extreme obesity.
PMID 16507637 2006 Melanocortin 4 receptor mutations in a large cohort of severely obese adults: prevalence, functional classification, genotype-phenotype relationship, and lack of association with binge eating.
PMID 18801902 2009 Functional characterization and structural modeling of obesity associated mutations in the melanocortin 4 receptor.
PMID 19091795 2009 Association of functionally significant Melanocortin-4 but not Melanocortin-3 receptor mutations with severe adult obesity in a large North American case-control study.
PMID 19301229 2009 Mutations in the melanocortin 4 receptor (MC4R) gene in obese patients in Norway.
PMID 18559663 2008 Prevalence of melanocortin-4 receptor deficiency in Europeans and their age-dependent penetrance in multigenerational pedigrees.
PMID 20966905 2011 Melanocortin-4 receptor gene mutations in a Dutch cohort of obese children.
PMID 16274851 2006 Obesity-associated mutations in the human melanocortin-4 receptor gene.
PMID 10199800 1999 In both of these cases Tyr-35-Stop and Asp-37-Val were maternally transmitted, thus these variations form a haplotype. d) e) A male obese proband harbored two missense mutations (Ser-30-Phe, Gly-252-Ser). f)-i) Four different missense mutations (Pro-78-Leu, Thr-112-Met, Arg-165-Trp, Ile-317-Thr) were detected in four different male probands, respectively.
PMID 12646665 2003 Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene.