Variant (rsID / SNP)

rs75472618

rs75472618 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PLCG2. Location: chromosome 16, position 81,942,175. Clinical significance in the table: Benign.

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Reference-table entries

PLCG2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 16:81942175
Cytoband: 16q23.3
HGVS: NM_002661.5(PLCG2):c.1712A>G (p.Asn571Ser)
Allele change: Missense_N571S

Associated conditions / phenotypes

Familial cold autoinflammatory syndrome 3

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.