MAP3K1 mitogen-activated protein kinase kinase kinase 1

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Information
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Frequency
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Information

Symbol: MAP3K1
Type: protein-coding
Description: mitogen-activated protein kinase kinase kinase 1
Entrez Gene ID: 4214
Genome: hg19
Position: chr5:56,111,376-56,191,979
Genome: hg38
Position: chr5:56,815,549-56,896,152
MIM: 600982 OMIM
HGNC: HGNC:6848 HGNC
Ensembl: ENSG00000095015 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	3	20
Likely pathogenic	0	12
Benign	0	144
Likely benign	0	142
Conflicting classifications of pathogenicity	0	22
not provided	24	0
Uncertain significance	1	222

Ranking

	ClinVar
	0
	0
	78
	418
	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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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	MAPKKK1
SYNONYM	MEKK
SYNONYM	MEKK 1
SYNONYM	MEKK1
SYNONYM	SRXY6
MIM	600982 OMIM
HGNC	HGNC:6848 HGNC
Ensembl	ENSG00000095015 Ensembl
AllianceGenome	HGNC:6848

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000399503.4	hg38	chr5	56,815,549	56,896,152	80,604
ENST00000399503.4	hg19	chr5	56,111,376	56,191,979	80,604

Key	Value
strand	+
start	56,110,899
Vogelstein	TSG
Gene Symbol	MAP3K1
Entrez GeneId	4,214
Chr Band	5q11.2
end	56,191,977
chr	chr5
Name	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase

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