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rs74315405

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs74315405(C;C)
Make rs74315405(C;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position4699813
GenePRNP
is asnp
is mentioned by
dbSNPrs74315405
ebirs74315405
HLIrs74315405
Exacrs74315405
Varsomers74315405
Maprs74315405
PheGenIrs74315405
hapmaprs74315405
1000 genomesrs74315405
hgdprs74315405
ensemblrs74315405
gopubmedrs74315405
geneviewrs74315405
scholarrs74315405
googlers74315405
pharmgkbrs74315405
gwascentralrs74315405
openSNPrs74315405
23andMers74315405
23andMe allrs74315405
SNP Nexus

SNPshotrs74315405
SNPdbers74315405
MSV3drs74315405
GWAS Ctlgrs74315405
Max Magnitude0
OMIM176640
Desc
Variant0011
Relatedalso
ClinVar
Risk rs74315405(C;C)
Alt rs74315405(C;C)
Reference rs74315405(T;T)
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.4680459T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000014340.24, RCV000020252.1,


[PMID 1357663OA-icon.png] Prion protein preamyloid and amyloid deposits in Gerstmann-Straussler-Scheinker disease, Indiana kindred.


[PMID 1363809] Linkage of the Indiana kindred of Gerstmann-Straussler-Scheinker disease to the prion protein gene.


[PMID 1363810] Mutant prion proteins in Gerstmann-Straussler-Scheinker disease with neurofibrillary tangles.


[PMID 2812321] Gerstmann-Straussler-Scheinker disease. I. Extending the clinical spectrum.


[PMID 7954833] Amyloid fibrils in Gerstmann-Straussler-Scheinker disease (Indiana and Swedish kindreds) express only PrP peptides encoded by the mutant allele.


[PMID 12372829] Disease-associated F198S mutation increases the propensity of the recombinant prion protein for conformational conversion to scrapie-like form.