chr20:4680413:A>G 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	chr20:4,680,413-4,680,413
hg38	chr20:4,699,767-4,699,767 View the variant detail on this assembly version.

HGVS

PRNP

Type	Transcript	Protein
RefSeq	NM_000311.3:c.547A>G	NP_000302.1:p.Thr183Ala
	NM_001080121.1:c.547A>G	NP_001073590.1:p.Thr183Ala
	NM_001080122.1:c.547A>G	NP_001073591.1:p.Thr183Ala
	NM_001080123.1:c.547A>G	NP_001073592.1:p.Thr183Ala
	NM_001271561.1:c.547A>G	NP_001258490.1:p.Thr183Ala
	NM_183079.2:c.547A>G	NP_898902.1:p.Thr183Ala
Ensemble	ENST00000379440.9:c.547A>G	ENST00000379440.9:p.Thr183Ala
	ENST00000424424.2:c.547A>G	ENST00000424424.2:p.Thr183Ala
	ENST00000430350.2:c.547A>G	ENST00000430350.2:p.Thr183Ala
	ENST00000457586.2:c.547A>G	ENST00000457586.2:p.Thr183Ala

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	1997-08-01	no assertion criteria provided	Spongiform encephalopathy with neuropsychiatric features	germline	Detail
Pathogenic	2023-11-02	criteria provided, single submitter	Huntington disease-like 1	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.481	Prion Diseases	NA	CLINVAR		Detail
0.360	Spongiform encephalopathy with neuropsychiatric features	NA	CLINVAR		Detail
<0.001	Familial Dementia	This mutant is a homolog of the human T183A mutation of PrP(C) that is associate...	BeFree	23787697	Detail
0.481	Prion Diseases	A heterozygous T183A mutation in the prion protein (PrP) gene, PRNP, was identif...	BeFree	15558291	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000311.5(PRNP):c.547A>G (p.Thr183Ala) AND Spongiform encephalopathy with neuropsychiatric feature...	ClinVar	Detail
NM_000311.5(PRNP):c.547A>G (p.Thr183Ala) AND Huntington disease-like 1	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
This mutant is a homolog of the human T183A mutation of PrP(C) that is associated with early onset o...	DisGeNET	Detail
A heterozygous T183A mutation in the prion protein (PrP) gene, PRNP, was identified in a patient wit...	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: rs74315411 dbSNP
Genome: hg19
Position: chr20:4,680,413-4,680,413
Variant Type: snv
Reference Allele: A
Alternative Allele: G

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