{{Rsnum
|rsid=35947132
|Gene=PRF1
|Chromosome=10
|position=70600631
|Orientation=plus
|GMAF=0.02158
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=PRF1
}}{{omim
|id=170280
|rsnum=35947132
|variant=0011
}}

{{ClinVar
|rsid=35947132
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=72360387
|CHROM=10
|GMAF=0.0215
|dbSNPBuildID=126
|SSR=0
|SAO=1
|VP=0x050368000000140516110100
|GENEINFO=PRF1:5551
|GENE_NAME=PRF1
|GENE_ID=5551
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000010.10:g.72360387G>A
|CLNORIGIN=1
|CLNSIG=255
|Tags=PM;PMC;S3D;SLO;VLD;HD;GNO;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9784; 0.02158
|CLNACC=RCV000014719.2; RCV000014720.2; RCV000014721.2
|CLNDBN=Hemophagocytic lymphohistiocytosis, familial, 2, susceptibility to; Lymphoma, non-hodgkin, susceptibility to; Aplastic anemia, susceptibility to
|CLNDSDB=MedGen
|CLNDSDBID=C2684859
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=170280.0011
|COMMON=1
|Disease=Hemophagocytic lymphohistiocytosis; Lymphoma; Aplastic anemia
}}

{{PMID|18661762}} Macrophage activation syndrome in 13 children with systemic-onset juvenile idiopathic arthritis.

{{GET Evidence
|gene=PRF1
|aa_change=Ala91Val
|aa_change_short=A91V
|impact=pathogenic
|qualified_impact=Low clinical importance, Likely pathogenic
|inheritance=other
|quality_scores=Array
|dbsnp_id=rs35947132
|overall_frequency_n=350
|overall_frequency_d=10758
|overall_frequency=0.0325339
|n_genomes=3
|n_genomes_annotated=0
|n_haplomes=3
|n_articles=3
|n_articles_annotated=3
|qualityscore_in_silico=1
|qualitycomment_in_silico=Y
|qualityscore_in_vitro=1
|qualitycomment_in_vitro=Y
|qualityscore_case_control=3
|qualitycomment_case_control=Y
|qualityscore_familial=0
|qualitycomment_familial=Y
|qualityscore_severity=4
|qualityscore_treatability=4
|gene_in_genetests=Y
|in_omim=Y
|pph2_score=0.852
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=2
|autoscore=6
|webscore=Y
|variant_evidence=0
|clinical_importance=1
|summary_short=This variant may be associated with a slightly increased susceptibility to some rare blood disorders, in particular autoimmune proliferative disease, if combined with a more severe mutation elsewhere. Most reports lack statistical significance.
}}

{{PMID Auto
|PMID=23528102
|Title=Association between granzyme B and perforin I polymorphisms and allograft outcomes in Hispanic kidney transplant recipients
}}

{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}