NOTCH1 notch receptor 1

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

Symbol: NOTCH1
Type: protein-coding
Description: notch receptor 1
Entrez Gene ID: 4851
Genome: hg19
Position: chr9:139,388,885-139,440,500
Genome: hg38
Position: chr9:136,494,433-136,546,048
MIM: 190198 OMIM
HGNC: HGNC:7881 HGNC
Ensembl: ENSG00000148400 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	16	134
Likely pathogenic	0	108
Benign	25	1,020
Likely benign	3	3,076
Conflicting classifications of pathogenicity	0	932
Conflicting classifications of pathogenicity; other	0	4
not provided	2,073	36
other	0	6
Uncertain significance	10	2,188
Uncertain significance; other	0	2

Ranking

	ClinVar
	0
	0
	1,742
	4,238
	68

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	AOS5
SYNONYM	AOVD1
SYNONYM	TAN1
SYNONYM	hN1
MIM	190198 OMIM
HGNC	HGNC:7881 HGNC
Ensembl	ENSG00000148400 Ensembl
AllianceGenome	HGNC:7881

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000680133.1	hg38	chr9	136,494,457	136,545,997	51,541
ENST00000680668.1	hg38	chr9	136,494,433	136,546,048	51,616
ENST00000680218.1	hg38	chr9	136,494,433	136,546,048	51,616
ENST00000651671.1	hg38	chr9	136,494,433	136,546,048	51,616
ENST00000680778.1	hg38	chr9	136,494,433	136,512,848	18,416
ENST00000680778.1	hg19	chr9	139,388,885	139,407,300	18,416
ENST00000651671.1	hg19	chr9	139,388,885	139,440,500	51,616
ENST00000680668.1	hg19	chr9	139,388,885	139,440,500	51,616
ENST00000680218.1	hg19	chr9	139,388,885	139,440,500	51,616
ENST00000680133.1	hg19	chr9	139,388,909	139,440,449	51,541

Key	Value
strand	-
start	139,388,884
Vogelstein	TSG
Gene Symbol	NOTCH1
Entrez GeneId	4,851
Chr Band	9q34.3
end	139,440,237
chr	chr9
Name	Notch homolog 1, translocation-associated (Drosophila) (TAN1)

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