chr20:4699400:TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC> Detail (hg38) (PRNP)

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

Information

Genome

Assembly	Position
hg19	chr20:4,680,046-4,680,093
hg38	chr20:4,699,400-4,699,447

HGVS

PRNP

Type	Transcript	Protein
RefSeq	NM_000311.3:c.180_227delTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC	NP_000302.1:p.Pro76_Gln91del
	NM_001080121.1:c.180_227delTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC	NP_001073590.1:p.Pro76_Gln91del
	NM_001080122.1:c.180_227delTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC	NP_001073591.1:p.Pro76_Gln91del
	NM_001080123.1:c.180_227delTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC	NP_001073592.1:p.Pro76_Gln91del
	NM_001271561.1:c.180_227delTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC	NP_001258490.1:p.Pro76_Gln91del
	NM_183079.2:c.180_227delTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC	NP_898902.1:p.Pro76_Gln91del
Ensemble	ENST00000379440.9:c.180_227delTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC	ENST00000379440.9:p.Pro76_Gln91del
	ENST00000424424.2:c.180_227delTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC	ENST00000424424.2:p.Pro76_Gln91del
	ENST00000430350.2:c.180_227delTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC	ENST00000430350.2:p.Pro76_Gln91del
	ENST00000457586.2:c.180_227delTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC	ENST00000457586.2:p.Pro76_Gln91del

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Uncertain significance
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
Uncertain significance	2019-03-27	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
0.481	Prion Diseases	NA	CLINVAR		Detail
0.859	Creutzfeldt-Jakob disease	NA	CLINVAR		Detail
0.360	Huntington disease-like 1	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000311.5(PRNP):c.180_227del (p.60_67PHGGGWGQ[2]) AND Huntington disease-like 1	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
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: rs193922906 dbSNP
Genome: hg38
Position: chr20:4,699,400-4,699,447
Variant Type: snv
Reference Allele: TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC
Alternative Allele: -

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