ATAD5 ATPase family AAA domain containing 5

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
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Variants
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Information

Symbol: ATAD5
Type: protein-coding
Description: ATPase family AAA domain containing 5
Entrez Gene ID: 79915
Genome: hg19
Position: chr17:29,158,984-29,222,887
Genome: hg38
Position: chr17:30,831,966-30,895,869
MIM: 609534 OMIM
HGNC: HGNC:25752 HGNC
Ensembl: ENSG00000176208 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Benign	0	48
Likely benign	0	42
Uncertain significance	0	148

Ranking

	ClinVar
	0
	0
	14
	222
	0

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

Search Word

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	:
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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	C17orf41
SYNONYM	ELG1
SYNONYM	FRAG1
MIM	609534 OMIM
HGNC	HGNC:25752 HGNC
Ensembl	ENSG00000176208 Ensembl
AllianceGenome	HGNC:25752

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000321990.5	hg38	chr17	30,831,966	30,895,869	63,904
ENST00000321990.5	hg19	chr17	29,158,984	29,222,887	63,904

Key	Value
strand	+
start	29,158,987
Gene Symbol	ATAD5
Entrez GeneId	79,915
Chr Band	17q11.2
end	29,222,882
chr	chr17

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