CANT1 calcium activated nucleotidase 1

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

Symbol: CANT1
Type: protein-coding
Description: calcium activated nucleotidase 1
Entrez Gene ID: 124583
Genome: hg19
Position: chr17:76,987,799-77,005,899
Genome: hg38
Position: chr17:78,991,717-79,009,817
MIM: 613165 OMIM
HGNC: HGNC:19721 HGNC
Ensembl: ENSG00000171302 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	0	60
Likely pathogenic	0	20
Benign	0	60
Likely benign	0	352
Conflicting classifications of pathogenicity	0	44
Uncertain significance	0	278

Ranking

	ClinVar
	0
	0
	76
	652
	16

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
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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	DBQD
SYNONYM	DBQD1
SYNONYM	EDM7
SYNONYM	SCAN-1
SYNONYM	SCAN1
SYNONYM	SHAPY
MIM	613165 OMIM
HGNC	HGNC:19721 HGNC
Ensembl	ENSG00000171302 Ensembl
AllianceGenome	HGNC:19721

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000591773.5	hg38	chr17	78,993,487	79,009,778	16,292
ENST00000302345.6	hg38	chr17	78,991,717	79,009,817	18,101
ENST00000392446.10	hg38	chr17	78,991,716	79,009,764	18,049
ENST00000620915.4	hg38	chr17	78,991,717	78,998,293	6,577
ENST00000392446.10	hg19	chr17	76,987,798	77,005,846	18,049
ENST00000620915.4	hg19	chr17	76,987,799	76,994,375	6,577
ENST00000302345.6	hg19	chr17	76,987,799	77,005,899	18,101
ENST00000591773.5	hg19	chr17	76,989,569	77,005,860	16,292

Key	Value
strand	-
start	76,987,797
Gene Symbol	CANT1
Entrez GeneId	124,583
Chr Band	17q25
end	77,005,898
chr	chr17
Name	calcium activated nucleotidase 1

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