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rs74315402

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs74315402(C;T)
Make rs74315402(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position4699570
GenePRNP
is asnp
is mentioned by
dbSNPrs74315402
ebirs74315402
HLIrs74315402
Exacrs74315402
Varsomers74315402
Maprs74315402
PheGenIrs74315402
hapmaprs74315402
1000 genomesrs74315402
hgdprs74315402
ensemblrs74315402
gopubmedrs74315402
geneviewrs74315402
scholarrs74315402
googlers74315402
pharmgkbrs74315402
gwascentralrs74315402
openSNPrs74315402
23andMers74315402
23andMe allrs74315402
SNP Nexus

SNPshotrs74315402
SNPdbers74315402
MSV3drs74315402
GWAS Ctlgrs74315402
Max Magnitude0
OMIM176640
Desc
Variant0004
Relatedalso
ClinVar
Risk rs74315402(T;T)
Alt rs74315402(T;T)
Reference rs74315402(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.4680216C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014330.23, RCV000020243.1,


[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 7501157] Prion disease (PrP-A117V) presenting with ataxia instead of dementia.


[PMID 9452375] A transmembrane form of the prion protein in neurodegenerative disease.


[PMID 10506086] Inherited prion disease with an alanine to valine mutation at codon 117 in the prion protein gene.