rs187152753

This variant is located in the MC4R gene.

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ClinVar annotation

Uncertain Significance★★★☆
7 submitters16 publications

Obesity; not specified; not provided; MC4R-related disorder; Early onset severe obesity

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About MC4R

The protein encoded by this gene is a membrane-bound receptor and member of the melanocortin receptor family. The encoded protein interacts with adrenocorticotropic and MSH hormones and is mediated by G proteins. This is an intronless gene. Defects in this gene are a cause of autosomal dominant obesity. [provided by RefSeq, Jan 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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