chr20:4699813:T>C Detail (hg38) (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	chr20:4,680,459-4,680,459 View the variant detail on this assembly version.
hg38	chr20:4,699,813-4,699,813

HGVS

PRNP

Type	Transcript	Protein
RefSeq	NM_000311.3:c.593T>C	NP_000302.1:p.Phe198Ser
	NM_001080121.1:c.593T>C	NP_001073590.1:p.Phe198Ser
	NM_001080122.1:c.593T>C	NP_001073591.1:p.Phe198Ser
	NM_001080123.1:c.593T>C	NP_001073592.1:p.Phe198Ser
	NM_001271561.1:c.593T>C	NP_001258490.1:p.Phe198Ser
	NM_183079.2:c.593T>C	NP_898902.1:p.Phe198Ser
Ensemble	ENST00000379440.9:c.593T>C	ENST00000379440.9:p.Phe198Ser
	ENST00000424424.2:c.593T>C	ENST00000424424.2:p.Phe198Ser
	ENST00000430350.2:c.593T>C	ENST00000430350.2:p.Phe198Ser
	ENST00000457586.2:c.593T>C	ENST00000457586.2:p.Phe198Ser

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	2002-12-13	no assertion criteria provided	Gerstmann-Straussler-Scheinker syndrome	germline	Detail
Pathogenic	2017-11-14	criteria provided, single submitter	Huntington disease-like 1	germline	Detail
Pathogenic	2022-12-14	criteria provided, single submitter	not provided	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
0.588	fatal familial insomnia	Here we have investigated the stability and Cu(II) binding properties of three r...	BeFree	12609901	Detail
0.600	Gerstmann-Straussler-Scheinker Disease	The F198S and E200K variants of PrP(23-231) differed in Cu(II) binding from the ...	BeFree	12609901	Detail
0.481	Prion Diseases	Our findings suggest that brain extracts from GSS F198S disease contain 3 promin...	BeFree	8939199	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000311.5(PRNP):c.593T>C (p.Phe198Ser) AND Gerstmann-Straussler-Scheinker syndrome	ClinVar	Detail
NM_000311.5(PRNP):c.593T>C (p.Phe198Ser) AND Huntington disease-like 1	ClinVar	Detail
NM_000311.5(PRNP):c.593T>C (p.Phe198Ser) AND not provided	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Here we have investigated the stability and Cu(II) binding properties of three recombinant variants ...	DisGeNET	Detail
The F198S and E200K variants of PrP(23-231) differed in Cu(II) binding from the wild-type mPrP(23-23...	DisGeNET	Detail
Our findings suggest that brain extracts from GSS F198S disease contain 3 prominent nonglycosylated ...	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: rs74315405 dbSNP
Genome: hg38
Position: chr20:4,699,813-4,699,813
Variant Type: snv
Reference Allele: T
Alternative Allele: C

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