rs545517350

This variant is located in the MEFV gene.

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ClinVar annotation

Conflicting Classifications
6 submitters7 publications

Familial Mediterranean fever; not specified; Acute febrile neutrophilic dermatosis; Familial Mediterranean fever, autosomal dominant; Familial Mediterranean fever;Familial Mediterranean fever, autosomal dominant;Acute febrile neutrophilic dermatosis

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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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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