rs772393451

This variant is located in the MC4R gene.

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ClinVar annotation

Conflicting Classifications
6 submitters8 publications

Monogenic diabetes; Obesity; BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20; MC4R-related disorder; not provided

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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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