rs11538758

Location of P105L pathogenic mutation in Prion Protein

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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)

Reference

GRCh38 38.1/141

Chromosome

20

Position

4699534

Gene

PRNP

is a	snp
is	mentioned by
dbSNP	rs11538758
dbSNP (classic)	rs11538758
ClinGen	rs11538758
ebi	rs11538758
HLI	rs11538758
Exac	rs11538758
Gnomad	rs11538758
Varsome	rs11538758
LitVar	rs11538758
Map	rs11538758
PheGenI	rs11538758
Biobank	rs11538758
1000 genomes	rs11538758
hgdp	rs11538758
ensembl	rs11538758
geneview	rs11538758
scholar	rs11538758
google	rs11538758
pharmgkb	rs11538758
gwascentral	rs11538758
openSNP	rs11538758
23andMe	rs11538758
SNPshot	rs11538758
SNPdbe	rs11538758
MSV3d	rs11538758
GWAS Ctlg	rs11538758

Max Magnitude

4

OMIM	176640
Desc
Variant	0015
Related	also

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(C;C)

ClinVar
Risk	rs11538758(A;A) rs11538758(T;T)
Alt	rs11538758(A;A) rs11538758(T;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 UniProtKB (protein)
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-Scheinker 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.