Have questions? Visit https://www.reddit.com/r/SNPedia

rs74315401

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs74315401(C;T)
Make rs74315401(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position4699525
GenePRNP
is asnp
is mentioned by
dbSNPrs74315401
ebirs74315401
HLIrs74315401
Exacrs74315401
Varsomers74315401
Maprs74315401
PheGenIrs74315401
hapmaprs74315401
1000 genomesrs74315401
hgdprs74315401
ensemblrs74315401
gopubmedrs74315401
geneviewrs74315401
scholarrs74315401
googlers74315401
pharmgkbrs74315401
gwascentralrs74315401
openSNPrs74315401
23andMers74315401
23andMe allrs74315401
SNP Nexus

SNPshotrs74315401
SNPdbers74315401
MSV3drs74315401
GWAS Ctlgrs74315401
Max Magnitude0
OMIM176640
Desc
Variant0002
Relatedalso
ClinVar
Risk rs74315401(T;T)
Alt rs74315401(T;T)
Reference rs74315401(C;C)
Significance Pathogenic
Disease Gerstmann-Straussler-Scheinker syndrome Genetic prion diseases
Variation info
Gene PRNP
CLNDBN Gerstmann-Straussler-Scheinker syndrome Genetic prion diseases
Reversed 0
HGVS NC_000020.10:g.4680171C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014329.24, RCV000020239.1,


[PMID 2180366] Creutzfeldt-Jakob disease patients with congophilic kuru plaques have the missense variant prion protein common to Gerstmann-Straussler syndrome.


[PMID 2190844] Creutzfeldt-Jakob disease and kuru patients lack a mutation consistently found in the Gerstmann-Straussler-Scheinker syndrome.


[PMID 2572450] Mutations in familial Creutzfeldt-Jakob disease and Gerstmann-Straussler-Scheinker's syndrome.


[PMID 2783132] Pro----leu change at position 102 of prion protein is the most common but not the sole mutation related to Gerstmann-Straussler syndrome.


[PMID 7902971] An Israeli family with Gerstmann-Straussler-Scheinker disease manifesting the codon 102 mutation in the prion protein gene.


[PMID 11967261] Cell surface accumulation of a truncated transmembrane prion protein in Gerstmann-Straussler-Scheinker disease P102L.