rs28933375(C;T)

Missense mutation in PRF1 gene, probably recessive

Magnitude
1.8Minor
Repute
Bad
On SNPedia
rs28933375(A;G)Minus strand
Gene
PRF1

Other genotypes of rs28933375

  1. T;TGoodcommon in clinvarTypical · 0.0
  2. C;CMost notableBadFamilial Hemophagocytic Lymphohistiocytosis and LymphomaVery important · 5.0

All about rs28933375

Notes

From SNPedia

Probably benign when heterozygous (i.e. recessive), but in at least one case, compound heterozygosity 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.

Source and license

Adapted from rs28933375(A;G) on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.

SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.