SMO smoothened, frizzled class receptor

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

Symbol: SMO
Type: protein-coding
Description: smoothened, frizzled class receptor
Entrez Gene ID: 6608
Genome: hg19
Position: chr7:128,828,474-128,853,386
Genome: hg38
Position: chr7:129,188,633-129,213,545
MIM: 601500 OMIM
HGNC: HGNC:11119 HGNC
Ensembl: ENSG00000128602 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	1	20
Likely pathogenic	0	4
Benign	0	66
Likely benign	0	82
Conflicting classifications of pathogenicity	0	4
not provided	112	14
Uncertain significance	2	126

Ranking

	ClinVar
	0
	0
	44
	216
	22

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

Search Word

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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Filtering	:

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	CRJS
SYNONYM	FZD11
SYNONYM	Gx
SYNONYM	PHLS
SYNONYM	SMOH
MIM	601500 OMIM
HGNC	HGNC:11119 HGNC
Ensembl	ENSG00000128602 Ensembl
AllianceGenome	HGNC:11119

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000249373.8	hg38	chr7	129,188,633	129,213,545	24,913
ENST00000249373.8	hg19	chr7	128,828,474	128,853,386	24,913

Key	Value
strand	+
start	128,828,712
Vogelstein	OG
Gene Symbol	SMO
Entrez GeneId	6,608
Chr Band	7q31-q32
end	128,853,384
chr	chr7
Name	smoothened homolog (Drosophila)

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