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Variant (rsID / SNP)

rs11466045

MEFV

rs11466045 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MEFV. Location: chromosome 16, position 3,293,880. 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
16:3293880
Cytoband
16p13.3
HGVS
NM_000243.3(MEFV):c.1772T>C (p.Ile591Thr)
Allele change
Missense_I591T

Associated conditions / phenotypes

Familial Mediterranean fever|Acute febrile neutrophilic dermatosis|Autoinflammatory syndrome

Public references

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