Variant (rsID / SNP)
rs763190690
rs763190690 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NLRP12. Location: chromosome 19, position 54,301,491. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
NLRP12Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- Duplication
- Chromosome / position
- 19:54301491
- Cytoband
- 19q13.42
- HGVS
- NM_144687.4(NLRP12):c.2927+4_2927+5dup
Associated conditions / phenotypes
Familial cold autoinflammatory syndrome|Familial cold autoinflammatory syndrome 2|Autoinflammatory syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.