TFAM transcription factor A, mitochondrial

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
Locus Zoom
Variants
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Information

Symbol: TFAM
Type: protein-coding
Description: transcription factor A, mitochondrial
Entrez Gene ID: 7019
Genome: hg19
Position: chr10:60,145,170-60,158,980
Genome: hg38
Position: chr10:58,385,410-58,399,220
MIM: 600438 OMIM
HGNC: HGNC:11741 HGNC
Ensembl: ENSG00000108064 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Likely pathogenic	0	4
Benign	0	34
Likely benign	0	56
Conflicting classifications of pathogenicity	0	2
not provided	1	0
Uncertain significance	0	46

Ranking

	ClinVar
	0
	0
	20
	114
	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

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	MTDPS15
SYNONYM	MTTF1
SYNONYM	MTTFA
SYNONYM	TCF6
SYNONYM	TCF6L1
SYNONYM	TCF6L2
SYNONYM	TCF6L3
MIM	600438 OMIM
HGNC	HGNC:11741 HGNC
Ensembl	ENSG00000108064 Ensembl
AllianceGenome	HGNC:11741

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000373895.7	hg38	chr10	58,385,434	58,395,288	9,855
ENST00000487519.6	hg38	chr10	58,385,410	58,399,220	13,811
ENST00000487519.6	hg19	chr10	60,145,170	60,158,980	13,811
ENST00000373895.7	hg19	chr10	60,145,194	60,155,048	9,855

Key	Value
strand	+
start	60,144,902
Gene Symbol	TFAM
Entrez GeneId	7,019
Chr Band	10q21
end	60,158,989
chr	chr10

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