chr20:4699870:A>G 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	chr20:4,680,516-4,680,516 View the variant detail on this assembly version.
hg38	chr20:4,699,870-4,699,870

HGVS

PRNP

Type	Transcript	Protein
RefSeq	NM_000311.3:c.650A>G	NP_000302.1:p.Gln217Arg
	NM_001080121.1:c.650A>G	NP_001073590.1:p.Gln217Arg
	NM_001080122.1:c.650A>G	NP_001073591.1:p.Gln217Arg
	NM_001080123.1:c.650A>G	NP_001073592.1:p.Gln217Arg
	NM_001271561.1:c.650A>G	NP_001258490.1:p.Gln217Arg
	NM_183079.2:c.650A>G	NP_898902.1:p.Gln217Arg
Ensemble	ENST00000379440.9:c.650A>G	ENST00000379440.9:p.Gln217Arg
	ENST00000424424.2:c.650A>G	ENST00000424424.2:p.Gln217Arg
	ENST00000430350.2:c.650A>G	ENST00000430350.2:p.Gln217Arg
	ENST00000457586.2:c.650A>G	ENST00000457586.2:p.Gln217Arg

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely 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	1992-04-01	no assertion criteria provided	Gerstmann-Straussler-Scheinker syndrome	germline	Detail
Likely pathogenic	2021-10-14	criteria provided, single submitter	Huntington disease-like 1	germline	Detail
Likely pathogenic	2024-01-03	criteria provided, single submitter	PRNP-related disorder	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
0.600	Gerstmann-Straussler-Scheinker Disease	We have now studied the folding and turnover of PrP32 to understand the mechanis...	BeFree	10970892	Detail
0.004	Central neuroblastoma	We have examined the role of molecular chaperones in the folding of normal and m...	BeFree	10970892	Detail
0.004	neuroblastoma	We have examined the role of molecular chaperones in the folding of normal and m...	BeFree	10970892	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000311.5(PRNP):c.650A>G (p.Gln217Arg) AND Gerstmann-Straussler-Scheinker syndrome	ClinVar	Detail
NM_000311.5(PRNP):c.650A>G (p.Gln217Arg) AND Huntington disease-like 1	ClinVar	Detail
NM_000311.5(PRNP):c.650A>G (p.Gln217Arg) AND PRNP-related disorder	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
We have now studied the folding and turnover of PrP32 to understand the mechanism by which abnormal ...	DisGeNET	Detail
We have examined the role of molecular chaperones in the folding of normal and mutant PrP Q217R (PrP...	DisGeNET	Detail
We have examined the role of molecular chaperones in the folding of normal and mutant PrP Q217R (PrP...	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: rs74315406 dbSNP
Genome: hg38
Position: chr20:4,699,870-4,699,870
Variant Type: snv
Reference Allele: A
Alternative Allele: G

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