NPRL2 NPR2 like, GATOR1 complex subunit

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

Symbol: NPRL2
Type: protein-coding
Description: NPR2 like, GATOR1 complex subunit
Entrez Gene ID: 10641
Genome: hg19
Position: chr3:50,384,761-50,388,206
Genome: hg38
Position: chr3:50,347,330-50,350,775
MIM: 607072 OMIM
HGNC: HGNC:24969 HGNC
Ensembl: ENSG00000114388 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	0	10
Likely pathogenic	0	24
Benign	0	12
Likely benign	0	20
Conflicting classifications of pathogenicity	0	8
not provided	0	2
Uncertain significance	0	98

Ranking

	ClinVar
	0
	0
	22
	132
	8

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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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

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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	FFEVF2
SYNONYM	NPR2
SYNONYM	NPR2L
SYNONYM	TUSC4
MIM	607072 OMIM
HGNC	HGNC:24969 HGNC
Ensembl	ENSG00000114388 Ensembl
AllianceGenome	HGNC:24969

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000232501.8	hg38	chr3	50,347,330	50,350,775	3,446
ENST00000232501.8	hg19	chr3	50,384,761	50,388,206	3,446

Key	Value
strand	-
UniProt	TSG
start	50,384,918
Gene Symbol	NPRL2
Entrez GeneId	10,641
Chr Band	3p21.3
end	50,388,485
chr	chr3

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