rs11466048

This variant is located in the MEFV gene.

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ClinVar annotation

Conflicting Classifications
11 submitters4 publications

not provided; not specified; Familial Mediterranean fever; Autoinflammatory syndrome; MEFV-related disorder

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About MEFV

This gene encodes a protein, also known as pyrin or marenostrin, that is an important modulator of innate immunity. Mutations in this gene are associated with Mediterranean fever, a hereditary periodic fever syndrome. [provided by RefSeq, Jul 2008]

View all MEFV variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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