DIS3L2 DIS3 like 3'-5' exoribonuclease 2

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

Symbol: DIS3L2
Type: protein-coding
Description: DIS3 like 3'-5' exoribonuclease 2
Entrez Gene ID: 129563
Genome: hg19
Position: chr2:232,826,423-233,201,902
Genome: hg38
Position: chr2:231,961,713-232,337,192
MIM: 614184 OMIM
HGNC: HGNC:28648 HGNC
Ensembl: ENSG00000144535 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	4	112
Likely pathogenic	1	80
Benign	0	126
Likely benign	0	1,620
Conflicting classifications of pathogenicity	0	98
Uncertain significance	26	2,420

Ranking

	ClinVar
	0
	0
	386
	3,918
	4

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

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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

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	FAM6A
SYNONYM	PRLMNS
SYNONYM	hDIS3L2
MIM	614184 OMIM
HGNC	HGNC:28648 HGNC
Ensembl	ENSG00000144535 Ensembl
AllianceGenome	HGNC:28648

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000409401.7	hg38	chr2	231,961,684	232,131,890	170,207
ENST00000325385.12	hg38	chr2	231,961,713	232,337,192	375,480
ENST00000273009.10	hg38	chr2	231,961,245	232,344,350	383,106
ENST00000273009.10	hg19	chr2	232,825,955	233,209,060	383,106
ENST00000409401.7	hg19	chr2	232,826,394	232,996,600	170,207
ENST00000325385.12	hg19	chr2	232,826,423	233,201,902	375,480

Key	Value
strand	+
UniProt	TSG
start	232,826,292
Gene Symbol	DIS3L2
Entrez GeneId	129,563
Chr Band	2q37.1
end	233,208,677
chr	chr2

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