Variant (rsID / SNP)

rs61754192

rs61754192 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NLRC4, SLC30A6. Location: chromosome 2, position 32,449,832. Clinical significance in the table: Benign.

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Reference-table entries

NLRC4Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:32449832
Cytoband: 2p22.3
HGVS: NM_001199138.2(NLRC4):c.2785G>T (p.Ala929Ser)
Allele change: Missense_C968F

Associated conditions / phenotypes

Periodic fever-infantile enterocolitis-autoinflammatory syndrome|Familial cold autoinflammatory syndrome 4|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.