chr20:4680301:T>G Detail (hg19) (PRNP)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr20:4,680,301-4,680,301
hg38	chr20:4,699,655-4,699,655 View the variant detail on this assembly version.

HGVS

PRNP

Type	Transcript	Protein
RefSeq	NM_000311.3:c.435T>G	NP_000302.1:p.Tyr145Ter
	NM_001080121.1:c.435T>G	NP_001073590.1:p.Tyr145Ter
	NM_001080122.1:c.435T>G	NP_001073591.1:p.Tyr145Ter
	NM_001080123.1:c.435T>G	NP_001073592.1:p.Tyr145Ter
	NM_001271561.1:c.435T>G	NP_001258490.1:p.Tyr145Ter
	NM_183079.2:c.435T>G	NP_898902.1:p.Tyr145Ter
Ensemble	ENST00000379440.9:c.435T>G	ENST00000379440.9:p.Tyr145Ter
	ENST00000424424.2:c.435T>G	ENST00000424424.2:p.Tyr145Ter
	ENST00000430350.2:c.435T>G	ENST00000430350.2:p.Tyr145Ter
	ENST00000457586.2:c.435T>G	ENST00000457586.2:p.Tyr145Ter

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	1996-01-23	no assertion criteria provided	CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.481	Prion Diseases	NA	CLINVAR		Detail
<0.001	cerebellar ataxia	Our aim was to screen for the P102L and other six known PRNP gene mutations (P10...	BeFree	18566986	Detail
0.481	Prion Diseases	The C-terminally-truncated human prion protein variant Y145Stop (or PrP23-144), ...	BeFree	22002245	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000311.5(PRNP):c.435T>G (p.Tyr145Ter) AND CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED	ClinVar	Detail
NA	DisGeNET	Detail
Our aim was to screen for the P102L and other six known PRNP gene mutations (P105L, A117V, Y145X, E2...	DisGeNET	Detail
The C-terminally-truncated human prion protein variant Y145Stop (or PrP23-144), associated with a fa...	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: rs80356710 dbSNP
Genome: hg19
Position: chr20:4,680,301-4,680,301
Variant Type: snv
Reference Allele: T
Alternative Allele: G

Genome browser