UNC13A unc-13 homolog A

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
Locus Zoom
Variants
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Information

Symbol: UNC13A
Type: protein-coding
Description: unc-13 homolog A
Entrez Gene ID: 23025
Genome: hg19
Position: chr19:17,712,145-17,799,163
Genome: hg38
Position: chr19:17,601,336-17,688,354
MIM: 609894 OMIM
HGNC: HGNC:23150 HGNC
Ensembl: ENSG00000130477 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Likely pathogenic	0	4
Benign	0	46
Likely benign	0	178
Conflicting classifications of pathogenicity	0	12
not provided	1	0
Uncertain significance	0	178

Ranking

	ClinVar
	0
	0
	32
	354
	6

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	Munc13-1
MIM	609894 OMIM
HGNC	HGNC:23150 HGNC
Ensembl	ENSG00000130477 Ensembl
AllianceGenome	HGNC:23150

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000551649.5	hg38	chr19	17,605,321	17,688,349	83,029
ENST00000550896.1	hg38	chr19	17,606,051	17,688,365	82,315
ENST00000519716.7	hg38	chr19	17,601,336	17,688,354	87,019
ENST00000552293.5	hg38	chr19	17,605,961	17,688,326	82,366
ENST00000519716.7	hg19	chr19	17,712,145	17,799,163	87,019
ENST00000551649.5	hg19	chr19	17,716,130	17,799,158	83,029
ENST00000552293.5	hg19	chr19	17,716,770	17,799,135	82,366
ENST00000550896.1	hg19	chr19	17,716,860	17,799,174	82,315

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