Variant (rsID / SNP)

rs121908152

rs121908152 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NLRP3. Location: chromosome 1, position 247,588,469. 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: 1:247588469
Cytoband: 1q44
HGVS: NM_001243133.2(NLRP3):c.1718T>C (p.Phe573Ser)
Allele change: Missense_F575S

Associated conditions / phenotypes

Chronic infantile neurological, cutaneous and articular syndrome|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.