SRY sex determining region Y

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Clinical Significance
Ranking
Frequency
Disease area statistics
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Information

Symbol: SRY
Type: protein-coding
Description: sex determining region Y
Entrez Gene ID: 6736
Genome: hg19
Position: chrY:2,654,896-2,655,723
Genome: hg38
Position: chrY:2,786,855-2,787,682
MIM: 480000 OMIM
HGNC: HGNC:11311 HGNC
Ensembl: ENSG00000184895 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	0	58
Likely pathogenic	0	12
Benign	0	2
Likely benign	0	6
Uncertain significance	0	28

Ranking

	ClinVar
	0
	0
	2
	66
	38

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

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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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	SRXX1
SYNONYM	SRXY1
SYNONYM	TDF
SYNONYM	TDY
MIM	480000 OMIM
HGNC	HGNC:11311 HGNC
Ensembl	ENSG00000184895 Ensembl
AllianceGenome	HGNC:11311

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000383070.2	hg38	chrY	2,786,855	2,787,682	828
ENST00000383070.2	hg19	chrY	2,654,896	2,655,723	828

Key	Value
strand	-
start	2,654,895
Gene Symbol	SRY
Entrez GeneId	6,736
Chr Band	Yp11.3
end	2,655,781
chr	chrY

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