chr20:4680545:C>A Detail (hg19) (PRNP)

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

Information

Genome

Assembly	Position
hg19	chr20:4,680,545-4,680,545
hg38	chr20:4,699,899-4,699,899 View the variant detail on this assembly version.

HGVS

PRNP

Type	Transcript	Protein
RefSeq	NM_000311.3:c.679C>A	NP_000302.1:p.Gln227Lys
	NM_001080121.1:c.679C>A	NP_001073590.1:p.Gln227Lys
	NM_001080122.1:c.679C>A	NP_001073591.1:p.Gln227Lys
	NM_001080123.1:c.679C>A	NP_001073592.1:p.Gln227Lys
	NM_001271561.1:c.679C>A	NP_001258490.1:p.Gln227Lys
	NM_183079.2:c.679C>A	NP_898902.1:p.Gln227Lys
Ensemble	ENST00000379440.9:c.679C>A	ENST00000379440.9:p.Gln227Lys
	ENST00000424424.2:c.679C>A	ENST00000424424.2:p.Gln227Lys
	ENST00000430350.2:c.679C>A	ENST00000430350.2:p.Gln227Lys
	ENST00000457586.2:c.679C>A	ENST00000457586.2:p.Gln227Lys

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

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

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.600	Gerstmann-Straussler-Scheinker Disease	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NA	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: rs17852079 dbSNP
Genome: hg19
Position: chr20:4,680,545-4,680,545
Variant Type: snv
Reference Allele: C
Alternative Allele: A

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