rs28940579

This is a variant in the MEFV gene that changes a valine to an aspartate.

ClinVar annotation

Uncertain Significance☆☆☆
54 submitters42 publications

not specified

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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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