chr20:4680180:C>T 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	chr20:4,680,180-4,680,180
hg38	chr20:4,699,534-4,699,534 View the variant detail on this assembly version.

HGVS

PRNP

Type	Transcript	Protein
RefSeq	NM_000311.3:c.314C>T	NP_000302.1:p.Pro105Leu
	NM_001080121.1:c.314C>T	NP_001073590.1:p.Pro105Leu
	NM_001080122.1:c.314C>T	NP_001073591.1:p.Pro105Leu
	NM_001080123.1:c.314C>T	NP_001073592.1:p.Pro105Leu
	NM_001271561.1:c.314C>T	NP_001258490.1:p.Pro105Leu
	NM_183079.2:c.314C>T	NP_898902.1:p.Pro105Leu
Ensemble	ENST00000379440.9:c.314C>T	ENST00000379440.9:p.Pro105Leu
	ENST00000424424.2:c.314C>T	ENST00000424424.2:p.Pro105Leu
	ENST00000430350.2:c.314C>T	ENST00000430350.2:p.Pro105Leu
	ENST00000457586.2:c.314C>T	ENST00000457586.2:p.Pro105Leu

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	1
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

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		other	unknown	MGS000001 (TMGS000137)	Kenjiro Kosaki	Keio University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	1993-12-01	no assertion criteria provided	Gerstmann-Straussler-Scheinker syndrome	germline	Detail
Pathogenic	2013-04-02	criteria provided, single submitter	Inborn genetic diseases	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
0.481	Prion Diseases	Eight patients with prion diseases were examined: three with sporadic Creutzfeld...	BeFree	15716520	Detail
0.004	Ataxia	A case of Gerstmann-Sträussler-Scheinker syndrome with the P105L prion protein g...	BeFree	19443103	Detail
0.600	Gerstmann-Straussler-Scheinker Disease	Eight patients with prion diseases were examined: three with sporadic Creutzfeld...	BeFree	15716520	Detail
<0.001	cerebellar ataxia	Our aim was to screen for the P102L and other six known PRNP gene mutations (P10...	BeFree	18566986	Detail
0.001	Paraparesis, Spastic	A case of Gerstmann-Sträussler-Scheinker syndrome with the P105L prion protein g...	BeFree	19443103	Detail
0.600	Gerstmann-Straussler-Scheinker Disease	A case of Gerstmann-Sträussler-Scheinker syndrome with the P105L prion protein g...	BeFree	19443103	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000311.5(PRNP):c.314C>T (p.Pro105Leu) AND Gerstmann-Straussler-Scheinker syndrome	ClinVar	Detail
NM_000311.5(PRNP):c.314C>T (p.Pro105Leu) AND Inborn genetic diseases	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Eight patients with prion diseases were examined: three with sporadic Creutzfeldt-Jakob disease (sCJ...	DisGeNET	Detail
A case of Gerstmann-Sträussler-Scheinker syndrome with the P105L prion protein gene mutation present...	DisGeNET	Detail
Eight patients with prion diseases were examined: three with sporadic Creutzfeldt-Jakob disease (sCJ...	DisGeNET	Detail
Our aim was to screen for the P102L and other six known PRNP gene mutations (P105L, A117V, Y145X, E2...	DisGeNET	Detail
A case of Gerstmann-Sträussler-Scheinker syndrome with the P105L prion protein gene mutation present...	DisGeNET	Detail
A case of Gerstmann-Sträussler-Scheinker syndrome with the P105L prion protein gene mutation present...	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: rs11538758 dbSNP
Genome: hg19
Position: chr20:4,680,180-4,680,180
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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