Variant (rsID / SNP)

rs4806773

rs4806773 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NLRP12. Location: chromosome 19, position 54,308,554. Clinical significance in the table: Benign.

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Reference-table entries

NLRP12Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 19:54308554
Cytoband: 19q13.42
HGVS: NM_144687.4(NLRP12):c.2394G>A (p.Gln798=)
Allele change: Synonymous_Q798Q

Associated conditions / phenotypes

Familial cold autoinflammatory syndrome 2

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.