rs747681609
×
Entrez Id:
4160
Gene Symbol:
MC4R
MC4R
Obesity
T
0.700
CausalMutation
CLINVAR
Defect in MAPK signaling as a cause for monogenic obesity caused by inactivating mutations in the melanocortin-4 receptor gene.
25332687
2014
rs747681609
×
Entrez Id:
4160
Gene Symbol:
MC4R
MC4R
Obesity
T
0.700
CausalMutation
CLINVAR
Evolutionary aspects in evaluating mutations in the melanocortin 4 receptor.
17628007
2007
rs747681609
×
Entrez Id:
4160
Gene Symbol:
MC4R
MC4R
Obesity
T
0.700
CausalMutation
CLINVAR
Prevalence of mutations and functional analyses of melanocortin 4 receptor variants identified among 750 men with juvenile-onset obesity.
15486053
2005
rs747681609
×
Entrez Id:
4160
Gene Symbol:
MC4R
MC4R
Obesity
T
0.700
CausalMutation
CLINVAR
The second variant, detected in 10 obese subjects, predicted a previously identified arginine-to-glutamine substitution at codon 165 , and the third variant, detected in one obese subject, predicted a novel glycine-to-serine substitution at codon 231.
15448103
2004
rs747681609
×
Entrez Id:
4160
Gene Symbol:
MC4R
MC4R
Obesity
T
0.700
CausalMutation
CLINVAR
Mutations in the human melanocortin-4 receptor gene associated with severe familial obesity disrupts receptor function through multiple molecular mechanisms.
12588803
2003
rs747681609
×
Entrez Id:
4160
Gene Symbol:
MC4R
MC4R
Obesity
T
0.700
CausalMutation
CLINVAR
Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene.
12646665
2003
rs747681609
×
Entrez Id:
4160
Gene Symbol:
MC4R
MC4R
Obesity
T
0.700
CausalMutation
CLINVAR
Poor cell surface expression of human melanocortin-4 receptor mutations associated with obesity.
12690102
2003
rs747681609
×
Entrez Id:
4160
Gene Symbol:
MC4R
MC4R
Obesity
T
0.700
CausalMutation
CLINVAR
Dominant and recessive inheritance of morbid obesity associated with melanocortin 4 receptor deficiency.
10903343
2000