Variant (rsID / SNP)

rs7525979

rs7525979 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NLRP3. Location: chromosome 1, position 247,587,408. Clinical significance in the table: Benign.

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Reference-table entries

NLRP3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:247587408
Cytoband: 1q44
HGVS: NM_001243133.2(NLRP3):c.657C>T (p.Thr219=)
Allele change: Synonymous_T221T

Associated conditions / phenotypes

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

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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