GFM1 G elongation factor mitochondrial 1

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
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Information

Symbol: GFM1
Type: protein-coding
Description: G elongation factor mitochondrial 1
Entrez Gene ID: 85476
Genome: hg19
Position: chr3:158,362,386-158,410,358
Genome: hg38
Position: chr3:158,644,597-158,692,569
MIM: 606639 OMIM
HGNC: HGNC:13780 HGNC
Ensembl: ENSG00000168827 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	4	190
Likely pathogenic	0	200
Benign	0	152
Likely benign	0	918
Conflicting classifications of pathogenicity	0	68
no classification for the single variant	0	4
Uncertain significance	0	268

Ranking

	ClinVar
	0
	0
	250
	1,364
	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

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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	COXPD1
SYNONYM	EFG
SYNONYM	EFG1
SYNONYM	EFGM
SYNONYM	EGF1
SYNONYM	GFM
SYNONYM	hEFG1
SYNONYM	mtEF-G1
MIM	606639 OMIM
HGNC	HGNC:13780 HGNC
Ensembl	ENSG00000168827 Ensembl
AllianceGenome	HGNC:13780

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000478576.5	hg38	chr3	158,644,528	158,682,433	37,906
ENST00000264263.9	hg38	chr3	158,644,597	158,692,569	47,973
ENST00000486715.6	hg38	chr3	158,644,527	158,695,581	51,055
ENST00000486715.6	hg19	chr3	158,362,316	158,413,370	51,055
ENST00000478576.5	hg19	chr3	158,362,317	158,400,222	37,906
ENST00000264263.9	hg19	chr3	158,362,386	158,410,358	47,973

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