TOP1 DNA topoisomerase I

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Clinical Significance
Ranking
Frequency
Disease area statistics
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Information

Symbol: TOP1
Type: protein-coding
Description: DNA topoisomerase I
Entrez Gene ID: 7150
Genome: hg19
Position: chr20:39,657,462-39,753,127
Genome: hg38
Position: chr20:41,028,822-41,124,487
MIM: 126420 OMIM
HGNC: HGNC:11986 HGNC
Ensembl: ENSG00000198900 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	0	2
Benign	0	12
Likely benign	0	10
association	0	2
no classification for the single variant	0	2
not provided	20	0
Uncertain significance	0	14

Ranking

	ClinVar
	0
	0
	4
	30
	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
Category	:
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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	TOPI
MIM	126420 OMIM
HGNC	HGNC:11986 HGNC
Ensembl	ENSG00000198900 Ensembl
AllianceGenome	HGNC:11986

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000680945.1	hg38	chr20	41,104,102	41,124,487	20,386
ENST00000361337.3	hg38	chr20	41,028,822	41,124,487	95,666
ENST00000361337.3	hg19	chr20	39,657,462	39,753,127	95,666
ENST00000680945.1	hg19	chr20	39,732,742	39,753,127	20,386

Key	Value
strand	+
UniProt	OG
start	39,657,461
Gene Symbol	TOP1
Entrez GeneId	7,150
Chr Band	20q12-q13.1
end	39,753,125
chr	chr20
Name	topoisomerase (DNA) I

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