Variant (rsID / SNP)

rs180177484

rs180177484 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NLRP3. Location: chromosome 1, position 247,587,661. 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: 1:247587661
Cytoband: 1q44
HGVS: NM_001243133.2(NLRP3):c.910G>A (p.Glu304Lys)
Allele change: Missense_E306K

Associated conditions / phenotypes

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.