Variant (rsID / SNP)
rs4252041
rs4252041 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IL1RN. Location: chromosome 2, position 113,890,610. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
IL1RNConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:113890610
- Cytoband
- 2q14.1
- HGVS
- NM_173842.3(IL1RN):c.*162C>T
- Allele change
- Silent
Associated conditions / phenotypes
Sterile multifocal osteomyelitis with periostitis and pustulosis|Autoinflammatory syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
