EGFL7 EGF like domain multiple 7

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
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Information

Symbol: EGFL7
Type: protein-coding
Description: EGF like domain multiple 7
Entrez Gene ID: 51162
Genome: hg19
Position: chr9:139,553,308-139,567,130
Genome: hg38
Position: chr9:136,658,856-136,672,678
MIM: 608582 OMIM
HGNC: HGNC:20594 HGNC
Ensembl: ENSG00000172889 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Benign	0	6
Likely benign	0	6
not provided	8	0
Uncertain significance	0	36

Ranking

	ClinVar
	0
	0
	2
	44
	0

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

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	:
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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	NEU1
SYNONYM	VE-STATIN
SYNONYM	ZNEU1
MIM	608582 OMIM
HGNC	HGNC:20594 HGNC
Ensembl	ENSG00000172889 Ensembl
AllianceGenome	HGNC:20594

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000371698.3	hg38	chr9	136,665,792	136,672,678	6,887
ENST00000371699.5	hg38	chr9	136,658,856	136,672,678	13,823
ENST00000308874.12	hg38	chr9	136,662,916	136,672,678	9,763
ENST00000406555.7	hg38	chr9	136,662,930	136,672,678	9,749
ENST00000371699.5	hg19	chr9	139,553,308	139,567,130	13,823
ENST00000308874.12	hg19	chr9	139,557,368	139,567,130	9,763
ENST00000406555.7	hg19	chr9	139,557,382	139,567,130	9,749
ENST00000371698.3	hg19	chr9	139,560,244	139,567,130	6,887

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