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rs28933375(G;G)

From SNPedia

Familial Hemophagocytic Lymphohistiocytosis and Lymphoma
Is agenotype
ofrs28933375
GenePRF1
Chromosome10
Position70,598,966
mentionedby
Magnitude5
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

This mutation codes for a missense mutation in the perforin (PRF1) gene. It is suspected to be pathogenic. Most research suggests that it follows a recessive model, but in at least one case, a patient with heterozygous mutations in both PRF1 and FAS developed autoimmune lymphoproliferative syndrome and a large-B-cell lymphoma.

In most cases, a single G allele may be benign, but more research is needed.