rs28933375(C;C)

Familial Hemophagocytic Lymphohistiocytosis and Lymphoma

Magnitude
5.0Very important
Repute
Bad
On SNPedia
rs28933375(G;G)Minus strand
Gene
PRF1

Other genotypes of rs28933375

  1. T;TGoodcommon in clinvarTypical · 0.0
  2. C;TBadMissense mutation in PRF1 gene, probably recessiveMinor · 1.8

All about rs28933375

Notes

From SNPedia

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.

Source and license

Adapted from rs28933375(G;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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.