PER1 period circadian regulator 1

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Information
Clinical Significance
Ranking
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Disease area statistics
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Information

Symbol: PER1
Type: protein-coding
Description: period circadian regulator 1
Entrez Gene ID: 5187
Genome: hg19
Position: chr17:8,043,790-8,055,722
Genome: hg38
Position: chr17:8,140,472-8,152,404
MIM: 602260 OMIM
HGNC: HGNC:8845 HGNC
Ensembl: ENSG00000179094 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Benign	0	26
Likely benign	0	42
Uncertain significance	0	128

Ranking

	ClinVar
	0
	0
	2
	192
	0

Frequency

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

Disease area statistics

[No Data.]

Locus Zoom

Variants

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Target data	:	MGeND data only
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Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	MGeND				Genome	ClinVar			CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction
Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	Entry	Origin	Type	Annotation	Genome	Entry	Origin	Annotation	CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction

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Name	MGeND				Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry
Name	Entry	Origin	Type	Annotation	Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

Search Word

Target data	:	MGeND data only
Category	:
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Filtering	:

Name	MGeND				Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry
Name	Entry	Origin	Type	Annotation	Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

Type	ID
SYNONYM	PER
SYNONYM	RIGUI
SYNONYM	hPER
MIM	602260 OMIM
HGNC	HGNC:8845 HGNC
Ensembl	ENSG00000179094 Ensembl
AllianceGenome	HGNC:8845

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000581082.5	hg38	chr17	8,140,477	8,150,832	10,356
ENST00000354903.9	hg38	chr17	8,144,055	8,156,360	12,306
ENST00000317276.9	hg38	chr17	8,140,472	8,152,404	11,933
ENST00000317276.9	hg19	chr17	8,043,790	8,055,722	11,933
ENST00000581082.5	hg19	chr17	8,043,795	8,054,150	10,356
ENST00000354903.9	hg19	chr17	8,047,373	8,059,678	12,306

Key	Value
strand	-
start	8,043,787
Gene Symbol	PER1
Entrez GeneId	5,187
Chr Band	17p13.1-17p12
end	8,055,752
chr	chr17
Name	period homolog 1 (Drosophila)

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