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rs11538758

From SNPedia

Location of P105L pathogenic mutation in Prion Protein
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 PrP codon P105 - Non-pathogenic form
(C;T) 4 P105L mutation leading to Inherited Prion Disease
Make rs11538758(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position4699534
GenePRNP
is asnp
is mentioned by
dbSNPrs11538758
ebirs11538758
HLIrs11538758
Exacrs11538758
Varsomers11538758
Maprs11538758
PheGenIrs11538758
hapmaprs11538758
1000 genomesrs11538758
hgdprs11538758
ensemblrs11538758
gopubmedrs11538758
geneviewrs11538758
scholarrs11538758
googlers11538758
pharmgkbrs11538758
gwascentralrs11538758
openSNPrs11538758
23andMers11538758
23andMe allrs11538758
SNP Nexus

SNPshotrs11538758
SNPdbers11538758
MSV3drs11538758
GWAS Ctlgrs11538758
Max Magnitude4
OMIM176640
Desc
Variant0015
Relatedalso
? (C;C)


ClinVar
Risk rs11538758(A,T;A,T)
Alt rs11538758(A,T;A,T)
Reference rs11538758(C;C)
Significance Pathogenic
Disease Gerstmann-Straussler-Scheinker syndrome Genetic prion diseases Inborn genetic diseases
Variation info
Gene PRNP
CLNDBN Gerstmann-Straussler-Scheinker syndrome Genetic prion diseases Inborn genetic diseases
Reversed 0
HGVS NC_000020.10:g.4680180C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014343.25, RCV000020242.1, RCV000190750.1,



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 7902693] A new point mutation of the prion protein gene in Creutzfeldt-Jakob disease.


[PMID 10526198] Mutation at codon 210 (V210I) of the prion protein gene in a North African patient with Creutzfeldt-Jakob disease.