{{Rsnum
|rsid=11538758
|Gene=PRNP
|Chromosome=20
|position=4699534
|Orientation=plus
|Summary=Location of P105L pathogenic mutation in Prion Protein
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=PRNP
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=176640
|rsnum=11538758
|variant=0015
}}

{{ population diversity
| geno1 = (C;C)
| geno2 = 
| geno3 = 
| CEU | 100.0 | 0 | 0
| CHB | 100.0 | 0 | 0
| JPT | 100.0 | 0 | 0
| YRI | 100.0 | 0 | 0
}}

{{ClinVar
|rsid=11538758
|Reversed=0
|FwdREF=C
|FwdALT=A,T
|REF=C
|ALT=A,T
|RSPOS=4680180
|CHROM=20
|dbSNPBuildID=120
|SSR=0
|SAO=1
|VP=0x050368000000000103110100
|GENEINFO=PRNP:5621
|GENE_NAME=PRNP
|GENE_ID=5621
|WGT=0
|VC=SNV
|CLNALLE=2
|CLNHGVS=NC_000020.10:g.4680180C>T
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NBK1229; 176640.0015
|CLNSIG=5
|CLNCUI=C0017495; C0162534
|CLNDBN=Gerstmann-Straussler-Scheinker syndrome; Genetic prion diseases
|Disease=Gerstmann-Straussler-Scheinker syndrome; Genetic prion diseases
|CLNACC=RCV000014343.24; RCV000020242.1
|Tags=PM;PMC;S3D;SLO;GNO;OTHERKG;PH3;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:OMIM:Orphanet:SNOMED_CT; GeneReviews:MedGen
|CLNDSDBID=NBK1229:C0017495:137440:183000:356:67155006; NBK1229:C0162534
}}

This SNP occurs at the location coding for Codon 105 of the Prion Protein (PrP). Normally Proline, a mutation to Lucine is associated with inherited [[Gerstmann-Straussler-Scheineker Syndrome]]. 

The mutant variant has a low likelihood (p=0.00-0.02) {{PMID|20583301}}, but leads to neurodegeneration after approximately age 50 {{PMID|8250529}}, although symptoms and onset can be highly variable.

{{PMID Auto
|PMID=7902693
|Title=A new point mutation of the prion protein gene in Creutzfeldt-Jakob disease.
}}

{{PMID Auto
|PMID=10526198
|Title=Mutation at codon 210 (V210I) of the prion protein gene in a North African patient with Creutzfeldt-Jakob disease.
}}

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