PTEN phosphatase and tensin homolog

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
Locus Zoom
Variants
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Information

Symbol: PTEN
Type: protein-coding
Description: phosphatase and tensin homolog
Entrez Gene ID: 5728
Genome: hg19
Position: chr10:89,623,382-89,731,687
Genome: hg38
Position: chr10:87,863,625-87,971,930
MIM: 601728 OMIM
HGNC: HGNC:9588 HGNC
Ensembl: ENSG00000171862 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	180	1,670
Likely pathogenic	33	606
Benign	8	174
Likely benign	13	1,238
Conflicting classifications of pathogenicity	0	254
no classification for the single variant	0	4
not provided	528	6
other	1	0
Uncertain significance	100	2,964

Ranking

	ClinVar
	0
	398
	1,812
	3,812
	406

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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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
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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	10q23del
SYNONYM	BZS
SYNONYM	CWS1
SYNONYM	DEC
SYNONYM	GLM2
SYNONYM	MHAM
SYNONYM	MMAC1
SYNONYM	PTEN1
SYNONYM	PTENbeta
SYNONYM	TEP1
MIM	601728 OMIM
HGNC	HGNC:9588 HGNC
Ensembl	ENSG00000171862 Ensembl
AllianceGenome	HGNC:9588

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000472832.3	hg38	chr10	87,864,329	87,961,309	96,981
ENST00000700029.2	hg38	chr10	87,863,625	87,966,885	103,261
ENST00000700021.1	hg38	chr10	87,863,795	87,966,885	103,091
ENST00000371953.8	hg38	chr10	87,863,625	87,971,930	108,306
ENST00000688308.1	hg38	chr10	87,862,638	87,966,885	104,248
ENST00000693560.1	hg38	chr10	87,863,438	87,971,930	108,493
ENST00000713839.1	hg38	chr10	87,863,633	87,966,885	103,253
ENST00000688308.1	hg19	chr10	89,622,395	89,726,642	104,248
ENST00000693560.1	hg19	chr10	89,623,195	89,731,687	108,493
ENST00000472832.3	hg19	chr10	89,624,086	89,721,066	96,981
ENST00000700021.1	hg19	chr10	89,623,552	89,726,642	103,091
ENST00000371953.8	hg19	chr10	89,623,382	89,731,687	108,306
ENST00000700029.2	hg19	chr10	89,623,382	89,726,642	103,261
ENST00000713839.1	hg19	chr10	89,623,390	89,726,642	103,253

Key	Value
strand	+
UniProt	TSG
start	89,623,194
Vogelstein	TSG
Gene Symbol	PTEN
Entrez GeneId	5,728
Chr Band	10q23.3
end	89,731,686
chr	chr10
Name	phosphatase and tensin homolog gene

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