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Variant (rsID / SNP)

rs150280940

NLRP12

rs150280940 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NLRP12. Location: chromosome 19, position 54,314,134. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

NLRP12Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
19:54314134
Cytoband
19q13.42
HGVS
NM_144687.4(NLRP12):c.779C>T (p.Thr260Met)
Allele change
Missense_T260M

Associated conditions / phenotypes

Familial cold autoinflammatory syndrome 2|Autoinflammatory syndrome

Public references

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