WNT1 Wnt family member 1

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
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Information

Symbol: WNT1
Type: protein-coding
Description: Wnt family member 1
Entrez Gene ID: 7471
Genome: hg19
Position: chr12:49,372,105-49,376,403
Genome: hg38
Position: chr12:48,978,322-48,982,620
MIM: 164820 OMIM
HGNC: HGNC:12774 HGNC
Ensembl: ENSG00000125084 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	0	44
Likely pathogenic	0	20
Benign	0	4
Likely benign	0	106
Conflicting classifications of pathogenicity	0	14
Pathogenic; risk factor	0	2
risk factor	0	4
Uncertain significance	0	240

Ranking

	ClinVar
	0
	0
	40
	362
	16

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	BMND16
SYNONYM	INT1
SYNONYM	OI15
MIM	164820 OMIM
HGNC	HGNC:12774 HGNC
Ensembl	ENSG00000125084 Ensembl
AllianceGenome	HGNC:12774

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000293549.4	hg38	chr12	48,978,322	48,982,620	4,299
ENST00000293549.4	hg19	chr12	49,372,105	49,376,403	4,299

Key	Value
strand	+
UniProt	OG
start	49,372,235
Gene Symbol	WNT1
Entrez GeneId	7,471
Chr Band	12q13
end	49,376,395
chr	chr12

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