Gene entry
PRF1
perforin 1
- Chromosome
- 10
- Cytoband
- 10q22.1
- Variants (rsID)
- 7
PRF1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 10 (region 10q22.1). Its official name is “perforin 1”. The reference table lists 7 variants (rsID) for this gene.
Clinically classified variants
7 reference-table entries with clinical significance.
- rs115281140Benignsingle nucleotide variantFamilial hemophagocytic lymphohistiocytosis 2|Autoinflammatory syndrome
- rs116554195Benignsingle nucleotide variantFamilial hemophagocytic lymphohistiocytosis 2|Autoinflammatory syndrome
- rs35418374Benignsingle nucleotide variantAplastic anemia|Familial hemophagocytic lymphohistiocytosis 2|Autoinflammatory syndrome
- rs144004164Conflicting interpretationssingle nucleotide variantFamilial hemophagocytic lymphohistiocytosis 2
- rs28933375Conflicting interpretationssingle nucleotide variantFamilial hemophagocytic lymphohistiocytosis 2|Autoinflammatory syndrome
- rs35947132Conflicting interpretationssingle nucleotide variantHemophagocytic lymphohistiocytosis, familial, 2, susceptibility to|Familial hemophagocytic lymphohistiocytosis 2|Autoinflammatory syndrome
- rs28933973Pathogenicsingle nucleotide variantFamilial hemophagocytic lymphohistiocytosis 2|Familial hemophagocytic lymphohistiocytosis|Autoinflammatory syndrome
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.