ENO3 enolase 3

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
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Information

Symbol: ENO3
Type: protein-coding
Description: enolase 3
Entrez Gene ID: 2027
Genome: hg19
Position: chr17:4,854,390-4,860,426
Genome: hg38
Position: chr17:4,951,095-4,957,131
MIM: 131370 OMIM
HGNC: HGNC:3354 HGNC
Ensembl: ENSG00000108515 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	0	4
Likely pathogenic	0	4
Benign	0	70
Likely benign	0	268
Conflicting classifications of pathogenicity	0	16
not provided	0	2
Uncertain significance	0	302

Ranking

	ClinVar
	0
	0
	108
	516
	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

[No Data.]

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

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	GSD13
SYNONYM	MSE
MIM	131370 OMIM
HGNC	HGNC:3354 HGNC
Ensembl	ENSG00000108515 Ensembl
AllianceGenome	HGNC:3354

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000518175.1	hg38	chr17	4,951,758	4,957,118	5,361
ENST00000519602.6	hg38	chr17	4,951,119	4,957,129	6,011
ENST00000519584.5	hg38	chr17	4,951,119	4,957,127	6,009
ENST00000323997.10	hg38	chr17	4,951,095	4,957,131	6,037
ENST00000323997.10	hg19	chr17	4,854,390	4,860,426	6,037
ENST00000518175.1	hg19	chr17	4,855,053	4,860,413	5,361
ENST00000519584.5	hg19	chr17	4,854,414	4,860,422	6,009
ENST00000519602.6	hg19	chr17	4,854,414	4,860,424	6,011

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