SOX10 SRY-box transcription factor 10

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
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Information

Symbol: SOX10
Type: protein-coding
Description: SRY-box transcription factor 10
Entrez Gene ID: 6663
Genome: hg19
Position: chr22:38,368,319-38,380,562
Genome: hg38
Position: chr22:37,972,312-37,984,555
MIM: 602229 OMIM
HGNC: HGNC:11190 HGNC
Ensembl: ENSG00000100146 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	11	174
Likely pathogenic	0	112
Benign	2	62
Likely benign	0	164
Conflicting classifications of pathogenicity	0	40
Uncertain significance	0	238

Ranking

	ClinVar
	0
	0
	110
	526
	80

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	DOM
SYNONYM	PCWH
SYNONYM	SOX-10
SYNONYM	WS2E
SYNONYM	WS4
SYNONYM	WS4C
MIM	602229 OMIM
HGNC	HGNC:11190 HGNC
Ensembl	ENSG00000100146 Ensembl
AllianceGenome	HGNC:11190

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000396884.8	hg38	chr22	37,972,312	37,984,555	12,244
ENST00000360880.6	hg38	chr22	37,972,300	37,987,422	15,123
ENST00000698177.1	hg38	chr22	37,972,300	37,985,726	13,427
ENST00000698177.1	hg19	chr22	38,368,307	38,381,733	13,427
ENST00000360880.6	hg19	chr22	38,368,307	38,383,429	15,123
ENST00000396884.8	hg19	chr22	38,368,319	38,380,562	12,244

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