Variant (rsID / SNP)

rs34330210

rs34330210 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NLRP12. Location: chromosome 19, position 54,314,489. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

NLRP12Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 19:54314489
Cytoband: 19q13.42
HGVS: NM_144687.4(NLRP12):c.424G>A (p.Asp142Asn)
Allele change: Missense_D142N

Associated conditions / phenotypes

Familial cold autoinflammatory syndrome 2|Autoinflammatory syndrome

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.