Variant (rsID / SNP)
rs121908147
rs121908147 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NLRP3. Location: chromosome 1, position 247,587,343. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:247587343
- Cytoband
- 1q44
- HGVS
- NM_001243133.2(NLRP3):c.592G>A (p.Val198Met)
- Allele change
- Missense_V200M
Associated conditions / phenotypes
Familial cold autoinflammatory syndrome 1|Familial cold autoinflammatory syndrome|Familial cold autoinflammatory syndrome 1|Familial amyloid nephropathy with urticaria AND deafness|Chronic infantile neurological, cutaneous and articular syndrome|Hearing loss, autosomal dominant 34, with or without inflammation|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.