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Variant (rsID / SNP)

rs28940578

MEFV

rs28940578 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MEFV. Location: chromosome 16, position 3,293,405. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MEFVConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
16:3293405
Cytoband
16p13.3
HGVS
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile)
Allele change
Missense_M694I

Associated conditions / phenotypes

Familial Mediterranean fever|Familial Mediterranean fever, autosomal dominant|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.