SOX9 SRY-box transcription factor 9

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
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Information

Symbol: SOX9
Type: protein-coding
Description: SRY-box transcription factor 9
Entrez Gene ID: 6662
Genome: hg19
Position: chr17:70,117,161-70,122,557
Genome: hg38
Position: chr17:72,121,020-72,126,416
MIM: 608160 OMIM
HGNC: HGNC:11204 HGNC
Ensembl: ENSG00000125398 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	17	152
Likely pathogenic	2	100
Benign	2	58
Likely benign	0	210
Conflicting classifications of pathogenicity	0	36
not provided	20	0
Uncertain significance	1	270

Ranking

	ClinVar
	0
	0
	90
	628
	36

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	CMD1
SYNONYM	CMPD1
SYNONYM	SRA1
SYNONYM	SRXX2
SYNONYM	SRXY10
MIM	608160 OMIM
HGNC	HGNC:11204 HGNC
Ensembl	ENSG00000125398 Ensembl
AllianceGenome	HGNC:11204

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000245479.3	hg38	chr17	72,121,020	72,126,416	5,397
ENST00000245479.3	hg19	chr17	70,117,161	70,122,557	5,397

Key	Value
strand	+
start	70,117,160
Vogelstein	TSG
Gene Symbol	SOX9
Entrez GeneId	6,662
Chr Band	17q24.3
end	70,122,559
chr	chr17

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