Variant (rsID / SNP)

rs121908151

rs121908151 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NLRP3. Location: chromosome 1, position 247,588,456. 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: 1:247588456
Cytoband: 1q44
HGVS: NM_001243133.2(NLRP3):c.1705G>C (p.Gly569Arg)
Allele change: Missense_G571R

Associated conditions / phenotypes

Familial amyloid nephropathy with urticaria AND deafness|Familial cold autoinflammatory syndrome 1

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.