rs74315414

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;C)	8	Gerstmann–Straussler–Scheinker syndrome
(C;C)	0	common in clinvar

Make rs74315414(A;A)

Reference

GRCh38 38.1/141

Chromosome

20

Position

4699533

Gene

PRNP

is a	snp
is	mentioned by
dbSNP	rs74315414
dbSNP (classic)	rs74315414
ClinGen	rs74315414
ebi	rs74315414
HLI	rs74315414
Exac	rs74315414
Gnomad	rs74315414
Varsome	rs74315414
LitVar	rs74315414
Map	rs74315414
PheGenI	rs74315414
Biobank	rs74315414
1000 genomes	rs74315414
hgdp	rs74315414
ensembl	rs74315414
geneview	rs74315414
scholar	rs74315414
google	rs74315414
pharmgkb	rs74315414
gwascentral	rs74315414
openSNP	rs74315414
23andMe	rs74315414
SNPshot	rs74315414
SNPdbe	rs74315414
MSV3d	rs74315414
GWAS Ctlg	rs74315414

Max Magnitude

8

OMIM	176640
Desc
Variant	0025
Related	also

OMIM	176640
Desc
Variant	0027
Related	also

ClinVar
Risk	rs74315414(A;A) rs74315414(T;T)
Alt	rs74315414(A;A) rs74315414(T;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 18955686] 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.