MIEF1 mitochondrial elongation factor 1

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Clinical Significance
Ranking
Frequency
Disease area statistics
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Information

Symbol: MIEF1
Type: protein-coding
Description: mitochondrial elongation factor 1
Entrez Gene ID: 54471
Genome: hg19
Position: chr22:39,896,105-39,911,713
Genome: hg38
Position: chr22:39,500,100-39,515,708
MIM: 615497 OMIM
HGNC: HGNC:25979 HGNC
Ensembl: ENSG00000100335 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	0	4
Benign	0	6
Likely benign	0	4
Uncertain significance	0	58

Ranking

	ClinVar
	0
	0
	0
	68
	4

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

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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	AltMIEF1
SYNONYM	D3A
SYNONYM	HSU79252
SYNONYM	L0R8F8
SYNONYM	MID51
SYNONYM	MIEF1-MP
SYNONYM	OPA14
SYNONYM	SMCR7L
SYNONYM	dJ1104E15.3
MIM	615497 OMIM
HGNC	HGNC:25979 HGNC
Ensembl	ENSG00000100335 Ensembl
AllianceGenome	HGNC:25979

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000404569.5	hg38	chr22	39,502,377	39,516,178	13,802
ENST00000325301.7	hg38	chr22	39,502,290	39,518,132	15,843
ENST00000402881.5	hg38	chr22	39,500,100	39,515,708	15,609
ENST00000402881.5	hg19	chr22	39,896,105	39,911,713	15,609
ENST00000325301.7	hg19	chr22	39,898,295	39,914,137	15,843
ENST00000404569.5	hg19	chr22	39,898,382	39,912,183	13,802

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