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Variant (rsID / SNP)

rs114618894

PLCG2

rs114618894 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PLCG2. Location: chromosome 16, position 81,962,190. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PLCG2Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
16:81962190
Cytoband
16q23.3
HGVS
NM_002661.5(PLCG2):c.2542C>T (p.Leu848Phe)
Allele change
Missense_L848F

Associated conditions / phenotypes

Familial cold autoinflammatory syndrome 3|Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation

Public references

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