chr20:4680258:G>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	chr20:4,680,258-4,680,258
hg38	chr20:4,699,612-4,699,612 View the variant detail on this assembly version.

HGVS

PRNP

Type	Transcript	Protein
RefSeq	NM_000311.3:c.392G>T	NP_000302.1:p.Gly131Val
	NM_001080121.1:c.392G>T	NP_001073590.1:p.Gly131Val
	NM_001080122.1:c.392G>T	NP_001073591.1:p.Gly131Val
	NM_001080123.1:c.392G>T	NP_001073592.1:p.Gly131Val
	NM_001271561.1:c.392G>T	NP_001258490.1:p.Gly131Val
	NM_183079.2:c.392G>T	NP_898902.1:p.Gly131Val
Ensemble	ENST00000379440.9:c.392G>T	ENST00000379440.9:p.Gly131Val
	ENST00000424424.2:c.392G>T	ENST00000424424.2:p.Gly131Val
	ENST00000430350.2:c.392G>T	ENST00000430350.2:p.Gly131Val
	ENST00000457586.2:c.392G>T	ENST00000457586.2:p.Gly131Val

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Pathogenic Likely pathogenic
Review star
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	COSM4817904	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2023-03-21	criteria provided, single submitter	Gerstmann-Straussler-Scheinker syndrome	germline	Detail
Pathogenic	2023-10-16	criteria provided, single submitter	Huntington disease-like 1	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.600	Gerstmann-Straussler-Scheinker Disease	NA	CLINVAR		Detail
0.600	Gerstmann-Straussler-Scheinker Disease	A new PRNP mutation (G131V) associated with Gerstmann-Sträussler-Scheinker disea...	BeFree	11709001	Detail
0.600	Gerstmann-Straussler-Scheinker Disease	A second case of Gerstmann-Sträussler-Scheinker disease linked to the G131V muta...	BeFree	21760536	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000311.5(PRNP):c.392G>T (p.Gly131Val) AND Gerstmann-Straussler-Scheinker syndrome	ClinVar	Detail
NM_000311.5(PRNP):c.392G>T (p.Gly131Val) AND Huntington disease-like 1	ClinVar	Detail
NA	DisGeNET	Detail
A new PRNP mutation (G131V) associated with Gerstmann-Sträussler-Scheinker disease.	DisGeNET	Detail
A second case of Gerstmann-Sträussler-Scheinker disease linked to the G131V mutation in the prion pr...	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: rs74315410 dbSNP
Genome: hg19
Position: chr20:4,680,258-4,680,258
Variant Type: snv
Reference Allele: G
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8646
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 121278
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.24551856066228E-6

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