STX1A syntaxin 1A

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
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Information

Symbol: STX1A
Type: protein-coding
Description: syntaxin 1A
Entrez Gene ID: 6804
Genome: hg19
Position: chr7:73,113,540-73,133,999
Genome: hg38
Position: chr7:73,699,210-73,719,669
MIM: 186590 OMIM
HGNC: HGNC:11433 HGNC
Ensembl: ENSG00000106089 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	0	2
Likely pathogenic	0	10
Benign	0	2
Likely benign	0	14
not provided	3	0
Uncertain significance	0	8

Ranking

	ClinVar
	0
	0
	0
	36
	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

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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	HPC-1
SYNONYM	P35-1
SYNONYM	STX1
SYNONYM	SYN1A
MIM	186590 OMIM
HGNC	HGNC:11433 HGNC
Ensembl	ENSG00000106089 Ensembl
AllianceGenome	HGNC:11433

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000395154.7	hg38	chr7	73,700,729	73,719,657	18,929
ENST00000395155.3	hg38	chr7	73,700,827	73,719,631	18,805
ENST00000395156.7	hg38	chr7	73,699,206	73,719,659	20,454
ENST00000222812.8	hg38	chr7	73,699,210	73,719,669	20,460
ENST00000395156.7	hg19	chr7	73,113,536	73,133,989	20,454
ENST00000222812.8	hg19	chr7	73,113,540	73,133,999	20,460
ENST00000395154.7	hg19	chr7	73,115,059	73,133,987	18,929
ENST00000395155.3	hg19	chr7	73,115,157	73,133,961	18,805

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