SEPTIN6 septin 6

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Clinical Significance
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Information

Symbol: SEPTIN6
Type: protein-coding
Description: septin 6
Entrez Gene ID: 23157
Genome: hg19
Position: chrX:118,751,602-118,827,333
Genome: hg38
Position: chrX:119,617,639-119,693,370
MIM: 300683 OMIM
HGNC: HGNC:15848 HGNC
Ensembl: ENSG00000125354 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Likely benign	0	12
not provided	6	0
Uncertain significance	0	20

Ranking

	ClinVar
	0
	0
	0
	32
	0

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

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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

Search Word

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	SEP2
SYNONYM	SEPT2
SYNONYM	SEPT6
SYNONYM	Septin-6
MIM	300683 OMIM
HGNC	HGNC:15848 HGNC
Ensembl	ENSG00000125354 Ensembl
AllianceGenome	HGNC:15848

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000394610.7	hg38	chrX	119,616,945	119,693,168	76,224
ENST00000343984.5	hg38	chrX	119,617,639	119,693,370	75,732
ENST00000360156.11	hg38	chrX	119,615,724	119,693,370	77,647
ENST00000489216.5	hg38	chrX	119,616,716	119,693,370	76,655
ENST00000354416.7	hg38	chrX	119,616,945	119,693,370	76,426
ENST00000354228.8	hg38	chrX	119,616,712	119,693,370	76,659
ENST00000360156.11	hg19	chrX	118,749,687	118,827,333	77,647
ENST00000354228.8	hg19	chrX	118,750,675	118,827,333	76,659
ENST00000489216.5	hg19	chrX	118,750,679	118,827,333	76,655
ENST00000394610.7	hg19	chrX	118,750,908	118,827,131	76,224
ENST00000354416.7	hg19	chrX	118,750,908	118,827,333	76,426
ENST00000343984.5	hg19	chrX	118,751,602	118,827,333	75,732

Key	Value
strand	-
start	118,749,687
Gene Symbol	SEPT6
Entrez GeneId	23,157
Chr Band	Xq24
end	118,827,332
chr	chrX
Name	septin 6

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