Variant (rsID / SNP)
rs3743930
rs3743930 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MEFV. Location: chromosome 16, position 3,304,626. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
MEFVConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 16:3304626
- Cytoband
- 16p13.3
- HGVS
- NM_000243.3(MEFV):c.442G>C (p.Glu148Gln)
- Allele change
- Missense_E148Q
Associated conditions / phenotypes
Familial Mediterranean fever|Familial Mediterranean fever, autosomal dominant|Familial Mediterranean fever|Familial Mediterranean fever, autosomal dominant|See cases|Autoinflammatory syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.