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Variant (rsID / SNP)

rs139814109

NLRP3

rs139814109 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NLRP3. Location: chromosome 1, position 247,607,973. 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
1:247607973
Cytoband
1q44
HGVS
NM_001243133.2(NLRP3):c.2855C>T (p.Thr952Met)
Allele change
Missense_T954M

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.