Variant (rsID / SNP)

rs10127939

rs10127939 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FCGR3A. Location: chromosome 1, position 161,518,333. Clinical significance in the table: Uncertain significance.

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Reference-table entries

FCGR3AUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:161518333
Cytoband: 1q23.3
HGVS: NM_000569.8(FCGR3A):c.197T>A (p.Leu66His)
Allele change: Missense_L66H

Associated conditions / phenotypes

Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity

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.