rs104895097

This is a variant in the MEFV gene that changes a arginine to an histidine.

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ClinVar annotation

Pathogenic★★★☆
35 submitters31 publications

Acute febrile neutrophilic dermatosis (AFND); Autoinflammatory syndrome; Familial Mediterranean fever (FMF); Familial Mediterranean fever, autosomal dominant; Inborn genetic diseases; 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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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