Variant (rsID / SNP)
rs61752717
rs61752717 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MEFV. Location: chromosome 16, position 3,293,407. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 16:3293407
- Cytoband
- 16p13.3
- HGVS
- NM_000243.3(MEFV):c.2080A>G (p.Met694Val)
- Allele change
- Missense_M694L
Associated conditions / phenotypes
Familial Mediterranean fever|9 conditions|8 conditions|Familial Mediterranean fever|Familial Mediterranean fever, autosomal dominant|Familial Mediterranean fever, autosomal dominant|Acute febrile neutrophilic dermatosis|Acute febrile neutrophilic dermatosis|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.