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Variant (rsID / SNP)

rs147559626

NLRP3

rs147559626 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NLRP3. Location: chromosome 1, position 247,582,305. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

NLRP3Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
1:247582305
Cytoband
1q44
HGVS
NM_001243133.2(NLRP3):c.203T>C (p.Met68Thr)
Allele change
Missense_M70T

Associated conditions / phenotypes

Familial amyloid nephropathy with urticaria AND deafness|Familial cold autoinflammatory syndrome 1|Chronic infantile neurological, cutaneous and articular syndrome|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.