IMPDH2 inosine monophosphate dehydrogenase 2

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
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Variants
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Information

Symbol: IMPDH2
Type: protein-coding
Description: inosine monophosphate dehydrogenase 2
Entrez Gene ID: 3615
Genome: hg19
Position: chr3:49,061,758-49,066,859
Genome: hg38
Position: chr3:49,024,325-49,029,426
MIM: 146691 OMIM
HGNC: HGNC:6053 HGNC
Ensembl: ENSG00000178035 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Likely pathogenic	0	6
Benign	0	4
Likely benign	0	4
Affects	0	2
Uncertain significance	0	38

Ranking

	ClinVar
	0
	0
	4
	46
	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

[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	IMPD2
SYNONYM	IMPDH-II
MIM	146691 OMIM
HGNC	HGNC:6053 HGNC
Ensembl	ENSG00000178035 Ensembl
AllianceGenome	HGNC:6053

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000442157.2	hg38	chr3	49,024,343	49,029,378	5,036
ENST00000678724.1	hg38	chr3	49,024,325	49,029,412	5,088
ENST00000677010.1	hg38	chr3	49,024,343	49,029,398	5,056
ENST00000326739.9	hg38	chr3	49,024,325	49,029,398	5,074
ENST00000429182.6	hg38	chr3	49,024,325	49,029,426	5,102
ENST00000326739.9	hg19	chr3	49,061,758	49,066,831	5,074
ENST00000429182.6	hg19	chr3	49,061,758	49,066,859	5,102
ENST00000442157.2	hg19	chr3	49,061,776	49,066,811	5,036
ENST00000677010.1	hg19	chr3	49,061,776	49,066,831	5,056
ENST00000678724.1	hg19	chr3	49,061,758	49,066,845	5,088

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