Variant (rsID / SNP)
rs144478519
rs144478519 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IL36RN. Location: chromosome 2, position 113,820,124. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
IL36RNConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:113820124
- Cytoband
- 2q14.1
- HGVS
- NM_012275.3(IL36RN):c.338C>T (p.Ser113Leu)
- Allele change
- Missense_S113L
Associated conditions / phenotypes
Generalized pustular psoriasis|Autoinflammatory syndrome|Acrodermatitis continua suppurativa of Hallopeau
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
