PRF1 perforin 1

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Information
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Information

Symbol: PRF1
Type: protein-coding
Description: perforin 1
Entrez Gene ID: 5551
Genome: hg19
Position: chr10:72,357,104-72,362,497
Genome: hg38
Position: chr10:70,597,348-70,602,741
MIM: 170280 OMIM
HGNC: HGNC:9360 HGNC
Ensembl: ENSG00000180644 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	24	184
Likely pathogenic	1	114
Benign	0	50
Likely benign	1	460
Conflicting classifications of pathogenicity	0	88
Conflicting classifications of pathogenicity; risk factor	0	2
Uncertain significance	9	498

Ranking

	ClinVar
	0
	0
	282
	930
	10

Frequency

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

Disease area statistics

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

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Target data	:	MGeND data only
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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	HPLH2
SYNONYM	P1
SYNONYM	PFP
MIM	170280 OMIM
HGNC	HGNC:9360 HGNC
Ensembl	ENSG00000180644 Ensembl
AllianceGenome	HGNC:9360

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000638674.1	hg38	chr10	70,597,348	70,602,687	5,340
ENST00000441259.2	hg38	chr10	70,597,348	70,602,741	5,394
ENST00000373209.2	hg38	chr10	70,597,348	70,602,759	5,412
ENST00000638674.1	hg19	chr10	72,357,104	72,362,443	5,340
ENST00000441259.2	hg19	chr10	72,357,104	72,362,497	5,394
ENST00000373209.2	hg19	chr10	72,357,104	72,362,515	5,412

Key	Value
strand	-
start	72,357,103
Gene Symbol	PRF1
Entrez GeneId	5,551
Chr Band	10q22
end	72,362,530
chr	chr10
Name	perforin 1 (pore forming protein)

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