NT5C2 5'-nucleotidase, cytosolic II

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
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Variants
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Information

Symbol: NT5C2
Type: protein-coding
Description: 5'-nucleotidase, cytosolic II
Entrez Gene ID: 22978
Genome: hg19
Position: chr10:104,847,877-104,953,054
Genome: hg38
Position: chr10:103,088,120-103,193,297
MIM: 600417 OMIM
HGNC: HGNC:8022 HGNC
Ensembl: ENSG00000076685 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	0	36
Likely pathogenic	0	14
Benign	0	82
Likely benign	0	204
Conflicting classifications of pathogenicity	0	4
not provided	0	2
Uncertain significance	0	176

Ranking

	ClinVar
	0
	0
	42
	452
	10

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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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	GMP
SYNONYM	NT5B
SYNONYM	PNT5
SYNONYM	SPG45
SYNONYM	SPG65
SYNONYM	cN-II
MIM	600417 OMIM
HGNC	HGNC:8022 HGNC
Ensembl	ENSG00000076685 Ensembl
AllianceGenome	HGNC:8022

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000404739.8	hg38	chr10	103,088,038	103,193,272	105,235
ENST00000675645.1	hg38	chr10	103,088,649	103,193,299	104,651
ENST00000675985.1	hg38	chr10	103,088,181	103,153,627	65,447
ENST00000674860.1	hg38	chr10	103,088,120	103,193,297	105,178
ENST00000676428.1	hg38	chr10	103,088,171	103,277,274	189,104
ENST00000676449.1	hg38	chr10	103,088,164	103,277,605	189,442
ENST00000675326.1	hg38	chr10	103,088,517	103,277,262	188,746
ENST00000674696.1	hg38	chr10	103,088,502	103,276,832	188,331
ENST00000343289.9	hg38	chr10	103,088,018	103,193,306	105,289
ENST00000343289.9	hg19	chr10	104,847,775	104,953,063	105,289
ENST00000404739.8	hg19	chr10	104,847,795	104,953,029	105,235
ENST00000674696.1	hg19	chr10	104,848,259	105,036,589	188,331
ENST00000674860.1	hg19	chr10	104,847,877	104,953,054	105,178
ENST00000675326.1	hg19	chr10	104,848,274	105,037,019	188,746
ENST00000675645.1	hg19	chr10	104,848,406	104,953,056	104,651
ENST00000675985.1	hg19	chr10	104,847,938	104,913,384	65,447
ENST00000676428.1	hg19	chr10	104,847,928	105,037,031	189,104
ENST00000676449.1	hg19	chr10	104,847,921	105,037,362	189,442

Key	Value
strand	-
start	104,847,773
Gene Symbol	NT5C2
Entrez GeneId	22,978
Chr Band	10q24.32
end	104,953,062
chr	chr10
Name	5'-nucleotidase, cytosolic II

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