Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Gene entry

NLRP3

NLR family pyrin domain containing 3

Chromosome
1
Cytoband
1q44
Variants (rsID)
39

NLRP3 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1q44). Its official name is “NLR family pyrin domain containing 3”. The reference table lists 39 variants (rsID) for this gene.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Clinically classified variants

24 reference-table entries with clinical significance.

  • rs147559626Benignsingle nucleotide variantFamilial amyloid nephropathy with urticaria AND deafness|Familial cold autoinflammatory syndrome 1|Chronic infantile neurological, cutaneous and articular syndrome|Cryopyrin associated periodic syndrome
  • rs72771992Benignsingle nucleotide variantChronic infantile neurological, cutaneous and articular syndrome|Familial amyloid nephropathy with urticaria AND deafness|Familial cold autoinflammatory syndrome 1
  • rs7525979Benignsingle nucleotide variantFamilial amyloid nephropathy with urticaria AND deafness|Chronic infantile neurological, cutaneous and articular syndrome|Familial cold autoinflammatory syndrome 1|Cryopyrin associated periodic syndrome
  • rs121908147Conflicting interpretationssingle nucleotide variantFamilial cold autoinflammatory syndrome 1|Familial cold autoinflammatory syndrome|Familial cold autoinflammatory syndrome 1|Familial amyloid nephropathy with urticaria AND deafness|Chronic infantile neurological, cutaneous and articular syndrome|Hearing loss, autosomal dominant 34, with or without inflammation|Cryopyrin associated periodic syndrome|Autoinflammatory syndrome
  • rs139814109Conflicting interpretationssingle nucleotide variantFamilial cold autoinflammatory syndrome 1|Familial amyloid nephropathy with urticaria AND deafness|Chronic infantile neurological, cutaneous and articular syndrome|Cryopyrin associated periodic syndrome|Autoinflammatory syndrome
  • rs145268073Conflicting interpretationssingle nucleotide variantFamilial cold autoinflammatory syndrome 1|Cryopyrin associated periodic syndrome|Hearing impairment|Autoinflammatory syndrome
  • rs149493236Conflicting interpretationssingle nucleotide variantFamilial amyloid nephropathy with urticaria AND deafness|Familial cold autoinflammatory syndrome 1|Chronic infantile neurological, cutaneous and articular syndrome|Cryopyrin associated periodic syndrome|Autoinflammatory syndrome
  • rs180177462Conflicting interpretationssingle nucleotide variantFamilial cold autoinflammatory syndrome 1|Familial amyloid nephropathy with urticaria AND deafness|Chronic infantile neurological, cutaneous and articular syndrome|Cryopyrin associated periodic syndrome|Autoinflammatory syndrome
  • rs201644343Conflicting interpretationssingle nucleotide variantFamilial amyloid nephropathy with urticaria AND deafness|Chronic infantile neurological, cutaneous and articular syndrome|Familial cold autoinflammatory syndrome 1|Autoinflammatory syndrome
  • rs35829419Conflicting interpretationssingle nucleotide variantFamilial cold autoinflammatory syndrome 1|Chronic infantile neurological, cutaneous and articular syndrome|Familial amyloid nephropathy with urticaria AND deafness|Cryopyrin associated periodic syndrome|Autoinflammatory syndrome
  • rs114158404Likely benignsingle nucleotide variantCryopyrin associated periodic syndrome
  • rs121908148Likely pathogenicsingle nucleotide variantFamilial cold autoinflammatory syndrome 1|Autoinflammatory syndrome
  • rs121908146Pathogenicsingle nucleotide variantFamilial cold autoinflammatory syndrome 1|Cryopyrin associated periodic syndrome|Autoinflammatory syndrome
  • rs121908149Pathogenicsingle nucleotide variantFamilial amyloid nephropathy with urticaria AND deafness|Familial cold autoinflammatory syndrome 1|Cryopyrin associated periodic syndrome
  • rs121908150Pathogenicsingle nucleotide variantFamilial amyloid nephropathy with urticaria AND deafness|Familial cold autoinflammatory syndrome 1|Cryopyrin associated periodic syndrome|Autoinflammatory syndrome
  • rs121908151Pathogenicsingle nucleotide variantFamilial amyloid nephropathy with urticaria AND deafness|Familial cold autoinflammatory syndrome 1
  • rs121908152Pathogenicsingle nucleotide variantChronic infantile neurological, cutaneous and articular syndrome|Familial cold autoinflammatory syndrome 1
  • rs151344629Pathogenicsingle nucleotide variantFamilial cold autoinflammatory syndrome 1|Familial amyloid nephropathy with urticaria AND deafness|Cryopyrin associated periodic syndrome|Autoinflammatory syndrome
  • rs180177431Pathogenicsingle nucleotide variantFamilial cold autoinflammatory syndrome 1|Cryopyrin associated periodic syndrome|Autoinflammatory syndrome
  • rs180177445Pathogenicsingle nucleotide variantFamilial cold autoinflammatory syndrome 1|Cryopyrin associated periodic syndrome
  • rs180177452Pathogenicsingle nucleotide variantFamilial cold autoinflammatory syndrome 1
  • rs180177484Pathogenicsingle nucleotide variantFamilial cold autoinflammatory syndrome 1|Cryopyrin associated periodic syndrome
  • rs28937896Pathogenicsingle nucleotide variantFamilial cold autoinflammatory syndrome 1|Familial cold autoinflammatory syndrome 1|Chronic infantile neurological, cutaneous and articular syndrome|Hearing loss, autosomal dominant 34, with or without inflammation|Familial amyloid nephropathy with urticaria AND deafness|Keratitis fugax hereditaria|Cryopyrin associated periodic syndrome
  • rs180177465Not classifiedsingle nucleotide variantFamilial cold autoinflammatory syndrome 1

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.