MPL MPL proto-oncogene, thrombopoietin receptor

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Information
Clinical Significance
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Frequency
Disease area statistics
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Information

Symbol: MPL
Type: protein-coding
Description: MPL proto-oncogene, thrombopoietin receptor
Entrez Gene ID: 4352
Genome: hg19
Position: chr1:43,803,489-43,820,137
Genome: hg38
Position: chr1:43,337,818-43,354,466
MIM: 159530 OMIM
HGNC: HGNC:7217 HGNC
Ensembl: ENSG00000117400 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	4	198
Likely pathogenic	0	152
Benign	0	44
Likely benign	0	708
Conflicting classifications of pathogenicity	0	64
not provided	19	6
Uncertain significance	0	352

Ranking

	ClinVar
	0
	0
	140
	1,240
	22

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

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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	C-MPL
SYNONYM	CD110
SYNONYM	MPLV
SYNONYM	THCYT2
SYNONYM	THPOR
SYNONYM	TPOR
MIM	159530 OMIM
HGNC	HGNC:7217 HGNC
Ensembl	ENSG00000117400 Ensembl
AllianceGenome	HGNC:7217

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000413998.7	hg38	chr1	43,337,849	43,352,772	14,924
ENST00000372470.9	hg38	chr1	43,337,818	43,354,466	16,649
ENST00000372470.9	hg19	chr1	43,803,489	43,820,137	16,649
ENST00000413998.7	hg19	chr1	43,803,520	43,818,443	14,924

Key	Value
strand	+
start	43,803,474
Vogelstein	OG
Gene Symbol	MPL
Entrez GeneId	4,352
Chr Band	1p34
end	43,820,134
chr	chr1
Name	myeloproliferative leukaemia virus oncogene, thrombopoietin receptor

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