rs5030980

This is a variant in the AGRP gene that changes a alanine to an threonine.

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ClinVar annotation

Pathogenic★☆☆☆
3 submitters4 publications

AGRP-related condition; Inherited obesity; Leanness, inherited (LEANNESS); Obesity, late-onset

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About AGRP

This gene encodes an antagonist of the melanocortin-3 and melanocortin-4 receptor. It appears to regulate hypothalamic control of feeding behavior via melanocortin receptor and/or intracellular calcium regulation, and thus plays a role in weight homeostasis. Mutations in this gene have been associated with late on-set obesity. [provided by RefSeq, Dec 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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