Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs145268073

NLRP3

rs145268073 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NLRP3. Location: chromosome 1, position 247,588,214. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

NLRP3Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:247588214
Cytoband
1q44
HGVS
NM_001243133.2(NLRP3):c.1463G>A (p.Arg488Lys)
Allele change
Missense_R490K

Associated conditions / phenotypes

Familial cold autoinflammatory syndrome 1|Cryopyrin associated periodic syndrome|Hearing impairment|Autoinflammatory syndrome

Public references

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