Variant (rsID / SNP)

rs224213

rs224213 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MEFV. Location: chromosome 16, position 3,299,749. Clinical significance in the table: Benign.

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Reference-table entries

MEFVBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 16:3299749
Cytoband: 16p13.3
HGVS: NM_000243.3(MEFV):c.942C>T (p.Arg314=)
Allele change: Synonymous_R314R

Associated conditions / phenotypes

Familial Mediterranean fever|Familial Mediterranean fever, autosomal dominant|Autoinflammatory syndrome

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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