{{Rsnum
|rsid=74315401
|Chromosome=20
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=PRNP
|position=4699525
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=PRNP
}}{{omim
|id=176640
|rsnum=74315401
|variant=0002
}}{{ClinVar
|rsid=74315401
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=4680171
|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.4680171C>T
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=NBK1229; 176640.0002
|CLNSIG=5
|CLNCUI=C0017495; C0162534
|CLNDBN=Gerstmann-Straussler-Scheinker syndrome; Genetic prion diseases
|Disease=Gerstmann-Straussler-Scheinker syndrome; Genetic prion diseases
|CLNACC=RCV000014329.23; RCV000020239.1
|Tags=PM;PMC;S3D;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:OMIM:Orphanet:SNOMED_CT; GeneReviews:MedGen
|CLNDSDBID=NBK1229:C0017495:137440:183000:356:67155006; NBK1229:C0162534
}}{{PMID Auto
|PMID=2180366
|Title=Creutzfeldt-Jakob disease patients with congophilic kuru plaques have the missense variant prion protein common to Gerstmann-Straussler syndrome.
}}

{{PMID Auto
|PMID=2190844
|Title=Creutzfeldt-Jakob disease and kuru patients lack a mutation consistently found in the Gerstmann-Straussler-Scheinker syndrome.
}}

{{PMID Auto
|PMID=2572450
|Title=Mutations in familial Creutzfeldt-Jakob disease and Gerstmann-Straussler-Scheinker's syndrome.
}}

{{PMID Auto
|PMID=2783132
|Title=Pro----leu change at position 102 of prion protein is the most common but not the sole mutation related to Gerstmann-Straussler syndrome.
}}

{{PMID Auto
|PMID=7902971
|Title=An Israeli family with Gerstmann-Straussler-Scheinker disease manifesting the codon 102 mutation in the prion protein gene.
}}

{{PMID Auto
|PMID=11967261
|Title=Cell surface accumulation of a truncated transmembrane prion protein in Gerstmann-Straussler-Scheinker disease P102L.
}}