ETNK1 ethanolamine kinase 1

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Information
Clinical Significance
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Frequency
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Information

Symbol: ETNK1
Type: protein-coding
Description: ethanolamine kinase 1
Entrez Gene ID: 55500
Genome: hg19
Position: chr12:22,778,105-22,843,599
Genome: hg38
Position: chr12:22,625,171-22,690,665
MIM: 609858 OMIM
HGNC: HGNC:24649 HGNC
Ensembl: ENSG00000139163 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
not provided	7	0
Uncertain significance	0	28

Ranking

	ClinVar
	0
	0
	0
	26
	2

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

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	EKI
SYNONYM	EKI 1
SYNONYM	EKI1
SYNONYM	Nbla10396
MIM	609858 OMIM
HGNC	HGNC:24649 HGNC
Ensembl	ENSG00000139163 Ensembl
AllianceGenome	HGNC:24649

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000538218.2	hg38	chr12	22,625,192	22,685,223	60,032
ENST00000266517.9	hg38	chr12	22,625,171	22,690,665	65,495
ENST00000672951.1	hg38	chr12	22,625,142	22,644,415	19,274
ENST00000545979.2	hg38	chr12	22,625,357	22,626,200	844
ENST00000335148.8	hg38	chr12	22,625,141	22,644,587	19,447
ENST00000671733.1	hg38	chr12	22,625,075	22,685,709	60,635
ENST00000671733.1	hg19	chr12	22,778,009	22,838,643	60,635
ENST00000335148.8	hg19	chr12	22,778,075	22,797,521	19,447
ENST00000672951.1	hg19	chr12	22,778,076	22,797,349	19,274
ENST00000266517.9	hg19	chr12	22,778,105	22,843,599	65,495
ENST00000538218.2	hg19	chr12	22,778,126	22,838,157	60,032
ENST00000545979.2	hg19	chr12	22,778,291	22,779,134	844

Key	Value
strand	+
start	22,778,075
Gene Symbol	ETNK1
Entrez GeneId	55,500
Chr Band	12p12.1
end	22,843,607
chr	chr12
Name	ethanolamine kinase 1

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