| Geno
|
Mag
|
Summary
|
| (A;C)
|
5
|
Obesity related mutation
|
| (C;C)
|
0
|
common in clinvar
|
aka c.105C>A (p.Tyr35Ter)
This nonsense mutation in the MC4R gene has been reported by multiple ClinVar submitters as pathogenic for obesity. It is also discussed in OMIM 1555541.0003, apparently as a dominantly inherited mutation.
[PMID 16507] Formaldehyde formation as a metabolite of methoxyflurane.
[PMID 10199800] Several mutations in the melanocortin-4 receptor gene including a nonsense and a frameshift mutation associated with dominantly inherited obesity in humans.
[PMID 12499395] Intracellular retention is a common characteristic of childhood obesity-associated MC4R mutations.
[PMID 12646665] Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene.
[PMID 12851297] Molecular genetics of human obesity-associated MC4R mutations.
[PMID 12970296] 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.
