Variant (rsID / SNP)

rs104895085

rs104895085 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MEFV. Location: chromosome 16, position 3,293,529. 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: 16:3293529
Cytoband: 16p13.3
HGVS: NM_000243.3(MEFV):c.1958G>A (p.Arg653His)
Allele change: Missense_R653H

Associated conditions / phenotypes

Familial Mediterranean fever

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.