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Variant (rsID / SNP)

rs28937896

NLRP3

rs28937896 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NLRP3. Location: chromosome 1, position 247,587,809. Clinical significance in the table: Pathogenic.

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Reference-table entries

NLRP3Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
1:247587809
Cytoband
1q44
HGVS
NM_001243133.2(NLRP3):c.1058T>C (p.Leu353Pro)
Allele change
Missense_L355P

Associated conditions / phenotypes

Familial 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

Public references

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