Variant (rsID / SNP)

rs121908149

rs121908149 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NLRP3. Location: chromosome 1, position 247,587,806. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

NLRP3Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:247587806
Cytoband: 1q44
HGVS: NM_001243133.2(NLRP3):c.1055C>T (p.Ala352Val)
Allele change: Missense_A354V

Associated conditions / phenotypes

Familial amyloid nephropathy with urticaria AND deafness|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.