chr20:4680497:G>C 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	chr20:4,680,497-4,680,497
hg38	chr20:4,699,851-4,699,851 View the variant detail on this assembly version.

HGVS

PRNP

Type	Transcript	Protein
RefSeq	NM_000311.3:c.631G>C	NP_000302.1:p.Glu211Gln
	NM_001080121.1:c.631G>C	NP_001073590.1:p.Glu211Gln
	NM_001080122.1:c.631G>C	NP_001073591.1:p.Glu211Gln
	NM_001080123.1:c.631G>C	NP_001073592.1:p.Glu211Gln
	NM_001271561.1:c.631G>C	NP_001258490.1:p.Glu211Gln
	NM_183079.2:c.631G>C	NP_898902.1:p.Glu211Gln
Ensemble	ENST00000379440.9:c.631G>C	ENST00000379440.9:p.Glu211Gln
	ENST00000424424.2:c.631G>C	ENST00000424424.2:p.Glu211Gln
	ENST00000430350.2:c.631G>C	ENST00000430350.2:p.Glu211Gln
	ENST00000457586.2:c.631G>C	ENST00000457586.2:p.Glu211Gln

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	2012-12-15	no assertion criteria provided	Inherited Creutzfeldt-Jakob disease	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.859	Creutzfeldt-Jakob disease	NA	CLINVAR		Detail
0.481	Prion Diseases	Identification of three novel mutations (E196K, V203I, E211Q) in the prion prote...	BeFree	10790216	Detail
0.859	Creutzfeldt-Jakob disease	Identification of three novel mutations (E196K, V203I, E211Q) in the prion prote...	BeFree	10790216	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000311.5(PRNP):c.631G>C (p.Glu211Gln) AND Inherited Creutzfeldt-Jakob disease	ClinVar	Detail
NA	DisGeNET	Detail
Identification of three novel mutations (E196K, V203I, E211Q) in the prion protein gene (PRNP) in in...	DisGeNET	Detail
Identification of three novel mutations (E196K, V203I, E211Q) in the prion protein gene (PRNP) in 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: rs398122370 dbSNP
Genome: hg19
Position: chr20:4,680,497-4,680,497
Variant Type: snv
Reference Allele: G
Alternative Allele: C

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