chr20:4680426:A>G Detail (hg19) (PRNP)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr20:4,680,426-4,680,426
hg38	chr20:4,699,780-4,699,780 View the variant detail on this assembly version.

HGVS

PRNP

Type	Transcript	Protein
RefSeq	NM_000311.3:c.560A>G	NP_000302.1:p.His187Arg
	NM_001080121.1:c.560A>G	NP_001073590.1:p.His187Arg
	NM_001080122.1:c.560A>G	NP_001073591.1:p.His187Arg
	NM_001080123.1:c.560A>G	NP_001073592.1:p.His187Arg
	NM_001271561.1:c.560A>G	NP_001258490.1:p.His187Arg
	NM_183079.2:c.560A>G	NP_898902.1:p.His187Arg
Ensemble	ENST00000379440.9:c.560A>G	ENST00000379440.9:p.His187Arg
	ENST00000424424.2:c.560A>G	ENST00000424424.2:p.His187Arg
	ENST00000430350.2:c.560A>G	ENST00000430350.2:p.His187Arg
	ENST00000457586.2:c.560A>G	ENST00000457586.2:p.His187Arg

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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Links

PRNP

Type	Database	ID	Link
Gene	MIM	176640	OMIM
	HGNC	9449	HGNC
	Ensembl	ENSG00000171867	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2005-04-12	no assertion criteria provided	Gerstmann-Straussler-Scheinker syndrome	germline	Detail
Pathogenic	2005-04-12	no assertion criteria provided	Spongiform encephalopathy with neuropsychiatric features	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.600	Gerstmann-Straussler-Scheinker Disease	NA	CLINVAR		Detail
0.481	Prion Diseases	NA	CLINVAR		Detail
0.360	Spongiform encephalopathy with neuropsychiatric features	NA	CLINVAR		Detail
0.009	Presenile dementia	Described is a large family with an autosomal dominant dementia associated with ...	BeFree	15824374	Detail
0.005	Encephalopathies	Inherited prion encephalopathy associated with the novel PRNP H187R mutation: a ...	BeFree	10953183	Detail
0.481	Prion Diseases	A variant of prion encephalopathy associated with the novel H187R mutation in th...	BeFree	10953183	Detail
0.028	dementia	Described is a large family with an autosomal dominant dementia associated with ...	BeFree	15824374	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000311.5(PRNP):c.560A>G (p.His187Arg) AND Gerstmann-Straussler-Scheinker syndrome	ClinVar	Detail
NM_000311.5(PRNP):c.560A>G (p.His187Arg) AND Spongiform encephalopathy with neuropsychiatric feature...	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Described is a large family with an autosomal dominant dementia associated with an H187R mutation in...	DisGeNET	Detail
Inherited prion encephalopathy associated with the novel PRNP H187R mutation: a clinical study.	DisGeNET	Detail
A variant of prion encephalopathy associated with the novel H187R mutation in the PRNP gene displays...	DisGeNET	Detail
Described is a large family with an autosomal dominant dementia associated with an H187R mutation in...	DisGeNET	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs74315413 dbSNP
Genome: hg19
Position: chr20:4,680,426-4,680,426
Variant Type: snv
Reference Allele: A
Alternative Allele: G

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