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Variant (rsID / SNP)

rs180177462

NLRP3

rs180177462 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NLRP3. Location: chromosome 1, position 247,587,695. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

NLRP3Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:247587695
Cytoband
1q44
HGVS
NM_001243133.2(NLRP3):c.944C>T (p.Pro315Leu)
Allele change
Missense_P317L

Associated conditions / phenotypes

Familial cold autoinflammatory syndrome 1|Familial amyloid nephropathy with urticaria AND deafness|Chronic infantile neurological, cutaneous and articular syndrome|Cryopyrin associated periodic syndrome|Autoinflammatory syndrome

Public references

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