rs774807554

This variant is located in the MEFV gene.

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ClinVar annotation

Conflicting Classifications
2 submitters2 publications

Familial Mediterranean fever

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Research that mentions this SNP (1)

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MEFV analysis is of particularly weak diagnostic value for recurrent fevers in Western European Caucasian patients
AssociationN=208Tchernitchko D. et al.(2005)· Arthritis & Rheumatism

This study analyzed MEFV gene mutations in 208 Western European Caucasian patients clinically diagnosed with familial Mediterranean fever (FMF). Only 2 patients carried a single mutated allele (p.K695R and p.I591T identified), and no patients carried two mutated alleles, demonstrating that MEFV mutations are extremely rare in this population (allele frequency 0.5%) and are not commonly responsible for FMF-like phenotypes in Western European Caucasians.

Traits studied:Familial Mediterranean feverRecurrent fevers
PubMedDOIMetascience Observatory

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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