Variant (rsID / SNP)

rs114158404

rs114158404 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NLRP3. Location: chromosome 1, position 247,597,571. Clinical significance in the table: Likely benign.

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Reference-table entries

NLRP3Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:247597571
Cytoband: 1q44
HGVS: NM_001243133.2(NLRP3):c.2488C>A (p.Leu830Ile)
Allele change: Missense_L832I

Associated conditions / phenotypes

Cryopyrin associated periodic syndrome

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.