IDH1 isocitrate dehydrogenase (NADP(+)) 1

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Information

Symbol: IDH1
Type: protein-coding
Description: isocitrate dehydrogenase (NADP(+)) 1
Entrez Gene ID: 3417
Genome: hg19
Position: chr2:209,100,989-209,119,046
Genome: hg38
Position: chr2:208,236,265-208,254,322
MIM: 147700 OMIM
HGNC: HGNC:5382 HGNC
Ensembl: ENSG00000138413 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	5	12
Likely pathogenic	6	12
Benign	0	44
Likely benign	0	298
not provided	30	6
other	1	0
Uncertain significance	2	462

Ranking

	ClinVar
	0
	0
	32
	778
	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

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	HEL-216
SYNONYM	HEL-S-26
SYNONYM	IDCD
SYNONYM	IDH
SYNONYM	IDP
SYNONYM	IDPC
SYNONYM	PICD
MIM	147700 OMIM
HGNC	HGNC:5382 HGNC
Ensembl	ENSG00000138413 Ensembl
AllianceGenome	HGNC:5382

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000345146.7	hg38	chr2	208,236,229	208,255,071	18,843
ENST00000446179.5	hg38	chr2	208,236,232	208,254,458	18,227
ENST00000415913.5	hg38	chr2	208,236,265	208,254,322	18,058
ENST00000345146.7	hg19	chr2	209,100,953	209,119,795	18,843
ENST00000446179.5	hg19	chr2	209,100,956	209,119,182	18,227
ENST00000415913.5	hg19	chr2	209,100,989	209,119,046	18,058

Key	Value
strand	-
start	209,100,950
Vogelstein	OG
Gene Symbol	IDH1
Entrez GeneId	3,417
Chr Band	2q33.3
end	209,119,866
chr	chr2
Name	isocitrate dehydrogenase 1 (NADP+), soluble

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