MEGF8 multiple EGF like domains 8

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
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Information

Symbol: MEGF8
Type: protein-coding
Description: multiple EGF like domains 8
Entrez Gene ID: 1954
Genome: hg19
Position: chr19:42,829,787-42,882,917
Genome: hg38
Position: chr19:42,325,635-42,378,765
MIM: 604267 OMIM
HGNC: HGNC:3233 HGNC
Ensembl: ENSG00000105429 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	0	24
Likely pathogenic	0	20
Benign	0	206
Likely benign	0	650
Conflicting classifications of pathogenicity	0	32
not provided	1	0
Uncertain significance	0	766

Ranking

	ClinVar
	0
	0
	300
	1,300
	12

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	:
Search word	:
Filtering	:

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	C19orf49
SYNONYM	CRPT2
SYNONYM	EGFL4
SYNONYM	SBP1
MIM	604267 OMIM
HGNC	HGNC:3233 HGNC
Ensembl	ENSG00000105429 Ensembl
AllianceGenome	HGNC:3233

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000378073.5	hg38	chr19	42,325,609	42,378,769	53,161
ENST00000251268.11	hg38	chr19	42,325,635	42,378,765	53,131
ENST00000334370.8	hg38	chr19	42,325,609	42,378,769	53,161
ENST00000334370.8	hg19	chr19	42,829,761	42,882,921	53,161
ENST00000378073.5	hg19	chr19	42,829,761	42,882,921	53,161
ENST00000251268.11	hg19	chr19	42,829,787	42,882,917	53,131

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