rs1023300125
This variant is located in the MEFV gene.
▶ClinVar annotation
Uncertain Significance★★★☆
2 submittersFamilial Mediterranean fever; Inborn genetic diseases
View on ClinVar →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.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…