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rs28933375(A;G)

From SNPedia

Missense mutation in PRF1 gene, probably recessive
Is agenotype
ofrs28933375
GenePRF1
Chromosome10
Position70,598,966
mentionedby
Magnitude1.8
ReputeBad
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 1.8 Missense mutation in PRF1 gene, probably recessive
(G;G) 5 Familial Hemophagocytic Lymphohistiocytosis and Lymphoma

Probably benign when heterozygous (i.e. recessive), but in at least one case, compound heterozygosity for with the Fas allele led to autoimmune lymphoproliferative syndrome and a large-B-cell lymphoma in a patient with a mutant PRF1 gene (which mutation is not clear). This is a missense mutation in the perforin (PRF1) gene.