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

rs74315414

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs74315414(A;A)
Make rs74315414(A;C)
ReferenceGRCh38 38.1/141
Chromosome20
Position4699533
GenePRNP
is asnp
is mentioned by
dbSNPrs74315414
ebirs74315414
HLIrs74315414
Exacrs74315414
Varsomers74315414
Maprs74315414
PheGenIrs74315414
hapmaprs74315414
1000 genomesrs74315414
hgdprs74315414
ensemblrs74315414
gopubmedrs74315414
geneviewrs74315414
scholarrs74315414
googlers74315414
pharmgkbrs74315414
gwascentralrs74315414
openSNPrs74315414
23andMers74315414
23andMe allrs74315414
SNP Nexus

SNPshotrs74315414
SNPdbers74315414
MSV3drs74315414
GWAS Ctlgrs74315414
Max Magnitude0
OMIM176640
Desc
Variant0025
Relatedalso
OMIM176640
Desc
Variant0027
Relatedalso
ClinVar
Risk rs74315414(A,T;A,T)
Alt rs74315414(A,T;A,T)
Reference rs74315414(C;C)
Significance Pathogenic
Disease Spongiform encephalopathy with neuropsychiatric features Genetic prion diseases Gerstmann-Straussler-Scheinker syndrome
Variation info
Gene PRNP
CLNDBN Spongiform encephalopathy with neuropsychiatric features Genetic prion diseases Gerstmann-Straussler-Scheinker syndrome
Reversed 0
HGVS NC_000020.10:g.4680179C>A; NC_000020.10:g.4680179C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014355.18, RCV000020240.1, RCV000014357.26, RCV000020241.1,


[PMID 18955686OA-icon.png] A novel PRNP-P105S mutation associated with atypical prion disease and a rare PrPSc conformation.


[PMID 16831973] Childhood onset in familial prion disease with a novel mutation in the PRNP gene.