Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs151344629

NLRP3

rs151344629 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NLRP3. Location: chromosome 1, position 247,587,794. Clinical significance in the table: Pathogenic.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

NLRP3Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
1:247587794
Cytoband
1q44
HGVS
NM_001243133.2(NLRP3):c.1043C>T (p.Thr348Met)
Allele change
Missense_T350M

Associated conditions / phenotypes

Familial cold autoinflammatory syndrome 1|Familial amyloid nephropathy with urticaria AND deafness|Cryopyrin associated periodic syndrome|Autoinflammatory syndrome

Public references

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