PRRX1 paired related homeobox 1

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
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Information

Symbol: PRRX1
Type: protein-coding
Description: paired related homeobox 1
Entrez Gene ID: 5396
Genome: hg19
Position: chr1:170,633,272-170,708,562
Genome: hg38
Position: chr1:170,664,131-170,739,421
MIM: 167420 OMIM
HGNC: HGNC:9142 HGNC
Ensembl: ENSG00000116132 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	0	8
Likely pathogenic	0	2
Benign	0	6
Likely benign	0	18
Uncertain significance	0	18

Ranking

	ClinVar
	0
	0
	2
	38
	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

[No Data.]

Locus Zoom

Variants

Search Word

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

Search Word

Target data	:	MGeND data only
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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	:
Search word	:
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	AGOTC
SYNONYM	PHOX1
SYNONYM	PMX1
SYNONYM	PRX-1
SYNONYM	PRX1
MIM	167420 OMIM
HGNC	HGNC:9142 HGNC
Ensembl	ENSG00000116132 Ensembl
AllianceGenome	HGNC:9142

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000239461.11	hg38	chr1	170,664,131	170,739,421	75,291
ENST00000497230.2	hg38	chr1	170,663,937	170,729,021	65,085
ENST00000367760.7	hg38	chr1	170,663,134	170,736,508	73,375
ENST00000367760.7	hg19	chr1	170,632,275	170,705,649	73,375
ENST00000497230.2	hg19	chr1	170,633,078	170,698,162	65,085
ENST00000239461.11	hg19	chr1	170,633,272	170,708,562	75,291

Key	Value
strand	+
start	170,633,312
Gene Symbol	PRRX1
Entrez GeneId	5,396
Chr Band	1q24
end	170,708,540
chr	chr1
Name	paired related homeobox 1

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