{{Rsnum
|rsid=35418374
|Gene=PRF1
|Chromosome=10
|position=70600892
|Orientation=plus
|GMAF=0.02112
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=PRF1
}}{{omim
|id=170280
|rsnum=35418374
|variant=0013
}}

{{ClinVar
|rsid=35418374
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=72360648
|CHROM=10
|GMAF=0.0211
|dbSNPBuildID=126
|SSR=0
|SAO=1
|VP=0x05016000000015051e110100
|GENEINFO=PRF1:5551
|GENE_NAME=PRF1
|GENE_ID=5551
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000010.10:g.72360648C>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=170280.0013
|CLNSIG=5
|CLNCUI=C0002874
|CLNDBN=Aplastic anemia
|Disease=Aplastic anemia
|CLNACC=RCV000014723.21
|Tags=PM;SLO;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;LSD;OM
|CAF=0.9789; 0.02112
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK22301:C0002874:609135:88:306058006
|COMMON=1
}}

{{GET Evidence
|gene=PRF1
|aa_change=Arg4His
|aa_change_short=R4H
|impact=pathogenic
|qualified_impact=Low clinical importance, Uncertain pathogenic
|inheritance=dominant
|quality_scores=Array
|dbsnp_id=rs35418374
|overall_frequency_n=291
|overall_frequency_d=10664
|overall_frequency=0.0272881
|n_genomes=3
|n_genomes_annotated=0
|n_haplomes=3
|n_articles=2
|n_articles_annotated=2
|qualityscore_in_silico=1
|qualitycomment_in_silico=Y
|qualityscore_case_control=0
|qualitycomment_case_control=Y
|qualityscore_severity=4
|qualityscore_treatability=2
|gene_in_genetests=Y
|in_omim=Y
|pph2_score=0.545
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=1
|max_or_disease_name=Aplastic Anemia
|max_or_case_pos=1
|max_or_case_neg=74
|max_or_control_pos=21
|max_or_control_neg=1135
|max_or_or=0.730
|autoscore=5
|webscore=N
|n_web_uneval=7
|variant_evidence=0
|clinical_importance=0
|summary_short=This rare variant was reported seen in an individual with acquired aplastic anemia, but the frequency of this allele in controls indicates is no different from the cases, indicating this is likely a polymorphism without dramatic functional effect.
}}

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