Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs28940579

MEFV

rs28940579 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MEFV. Location: chromosome 16, position 3,293,310. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

MEFVPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
16:3293310
Cytoband
16p13.3
HGVS
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala)
Allele change
Missense_V726A

Associated conditions / phenotypes

Familial Mediterranean fever|Familial Mediterranean fever|Familial Mediterranean fever, autosomal dominant|Inborn genetic diseases|Familial Mediterranean fever, autosomal dominant|Acute febrile neutrophilic dermatosis|Familial Mediterranean fever|Familial Mediterranean fever, autosomal dominant|Autoinflammatory syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.