{{Rsnum
|rsid=28933375
|Gene=PRF1
|Chromosome=10
|position=70598966
|Orientation=minus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.005969
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=PRF1
}}{{omim
|desc=HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
|id=170280
|rsnum=28933375
|variant=0009
}}
{{ neighbor
| rsid = 28933374
| distance = 279
}}
{{ neighbor
| rsid = 28933973
| distance = 82
}}

{{ClinVar
|rsid=28933375
|Reversed=1
|FwdREF=A
|FwdALT=G
|REF=T
|ALT=C
|RSPOS=72358722
|CHROM=10
|GMAF=0.006
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x05026000000004041e110100
|GENEINFO=PRF1:5551
|GENE_NAME=PRF1
|GENE_ID=5551
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000010.10:g.72358722T>C
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=170280.0009
|CLNSIG=5
|CLNCUI=C1863727
|CLNDBN=Hemophagocytic lymphohistiocytosis, familial, 2; Malignant lymphoma, non-Hodgkin
|Disease=Hemophagocytic lymphohistiocytosis; Malignant lymphoma
|CLNACC=RCV000014716.24; RCV000014717.24
|Tags=RV;PM;S3D;VLD;HD;KGPhase1;KGPilot123;KGPROD;OTHERKG;LSD;OM
|CAF=0.994; 0.005969
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet; MedGen:OMIM:SNOMED_CT:SNOMED_CT
|CLNDSDBID=NBK1444:C1863727:603553:540; C0024305:605027:118601006:1929004
|COMMON=1
}}

{{GET Evidence
|gene=PRF1
|aa_change=Asn252Ser
|aa_change_short=N252S
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs28933375
|overall_frequency_n=82
|overall_frequency_d=10758
|overall_frequency=0.00762223
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=1
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|in_omim=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=0
|autoscore=5
|webscore=N
|n_web_uneval=10
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}