{{Rsnum
|rsid = 28933385
|Gene = PRNP
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Chromosome=20
|position=4699818
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=PRNP
}}{{omim
|desc=CREUTZFELDT-JAKOB DISEASE
|id=176640
|rsnum=28933385
|variant=0006
}}
{{ neighbor
| rsid = 16990018
| distance = 86
}}

{{ClinVar
|rsid=28933385
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=4680464
|CHROM=20
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050368000000000002110100
|GENEINFO=PRNP:5621
|GENE_NAME=PRNP
|GENE_ID=5621
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000020.10:g.4680464G>A
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NBK1229; 176640.0006
|CLNSIG=5
|CLNCUI=C0022336; C0206042; C0162534
|CLNDBN=Jakob-Creutzfeldt disease; Fatal familial insomnia; Genetic prion diseases
|Disease=Jakob-Creutzfeldt disease; Fatal familial insomnia; Genetic prion diseases
|CLNACC=RCV000014334.24; RCV000014335.19; RCV000020253.1
|Tags=PM;PMC;S3D;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT; GeneReviews:MedGen
|CLNDSDBID=NBK1229:C0022336:123400:204:792004; NBK1229:C0206042:600072:466:83157008; NBK1229:C0162534
}}

This SNP affects codon 200 of the Prion Protein gene. Normally a Glutamate, a polymorphism can cause the E200K mutation, which leads to inherited [[Creuzfeldt-Jakob Disease]]. The E200K mutation is one of the most common pathogenic [[Prion disease]] mutations, with penetrance estimated at 0.56 {{PMID|7999318}}.

The E200K mutation has also been associated with [[Fatal Familial Insomnia]] when combined with a codon 129 MM genotype [[Rs1799990]] {{PMID|8618678}}

==Some example publications:==

{{PMID|1351274}} Transmission of spongiform encephalopathy from a familial Creutzfeldt-Jakob disease patient of Jewish Libyan origin carrying the PRNP codon 200 mutation.

{{PMID|1404799}} Familial Creutzfeldt-Jakob disease (codon 200 mutation) with supranuclear palsy.

{{PMID|1469441}} Familial Creutzfeldt-Jakob disease in Chile is associated with the codon 200 mutation of the PRNP amyloid precursor gene on chromosome 20.

{{PMID|1798423}} Genetic and environmental factors determining the development of Creutzfeldt-Jakob disease in Libyan Jews.

{{PMID|7936296}} The risk of developing Creutzfeldt-Jakob disease in subjects with the PRNP gene codon 200 point mutation.

{{PMID|10889050|OA=1
}} Age and origin of the PRNP E200K mutation causing familial Creutzfeldt-Jacob disease in Libyan Jews.

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