DPH1 diphthamide biosynthesis 1

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Clinical Significance
Ranking
Frequency
Disease area statistics
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Information

Symbol: DPH1
Type: protein-coding
Description: diphthamide biosynthesis 1
Entrez Gene ID: 1801
Genome: hg19
Position: chr17:1,933,447-1,947,192
Genome: hg38
Position: chr17:2,030,153-2,043,898
MIM: 603527 OMIM
HGNC: HGNC:3003 HGNC
Ensembl: ENSG00000108963 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	0	14
Likely pathogenic	2	12
Benign	0	22
Likely benign	0	50
Conflicting classifications of pathogenicity	0	6
not provided	1	0
Uncertain significance	0	150

Ranking

	ClinVar
	0
	0
	26
	208
	6

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	DEDSSH
SYNONYM	DPH2L
SYNONYM	DPH2L1
SYNONYM	OVCA1
MIM	603527 OMIM
HGNC	HGNC:3003 HGNC
Ensembl	ENSG00000108963 Ensembl
AllianceGenome	HGNC:3003

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000263083.12	hg38	chr17	2,030,153	2,043,898	13,746
ENST00000570477.6	hg38	chr17	2,033,393	2,043,898	10,506
ENST00000674200.2	hg38	chr17	2,030,137	2,043,898	13,762
ENST00000571418.7	hg38	chr17	2,030,159	2,043,898	13,740
ENST00000263083.12	hg19	chr17	1,933,447	1,947,192	13,746
ENST00000674200.2	hg19	chr17	1,933,431	1,947,192	13,762
ENST00000570477.6	hg19	chr17	1,936,687	1,947,192	10,506
ENST00000571418.7	hg19	chr17	1,933,453	1,947,192	13,740

Key	Value
strand	+
UniProt	TSG
start	1,933,430
Gene Symbol	DPH1
Entrez GeneId	1,801
Chr Band	17p13.3
end	1,946,724
chr	chr17

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