ROBO3 roundabout guidance receptor 3

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
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Information

Symbol: ROBO3
Type: protein-coding
Description: roundabout guidance receptor 3
Entrez Gene ID: 64221
Genome: hg19
Position: chr11:124,735,328-124,751,367
Genome: hg38
Position: chr11:124,865,432-124,881,471
MIM: 608630 OMIM
HGNC: HGNC:13433 HGNC
Ensembl: ENSG00000154134 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	0	24
Likely pathogenic	0	42
Benign	0	64
Likely benign	0	90
Conflicting classifications of pathogenicity	0	42
Uncertain significance	0	320

Ranking

	ClinVar
	0
	0
	66
	448
	14

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

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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	HGPPS
SYNONYM	HGPPS1
SYNONYM	HGPS
SYNONYM	RBIG1
SYNONYM	RIG1
MIM	608630 OMIM
HGNC	HGNC:13433 HGNC
Ensembl	ENSG00000154134 Ensembl
AllianceGenome	HGNC:13433

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000538940.5	hg38	chr11	124,868,468	124,881,466	12,999
ENST00000397801.6	hg38	chr11	124,865,432	124,881,471	16,040
ENST00000543966.5	hg38	chr11	124,877,388	124,881,463	4,076
ENST00000397801.6	hg19	chr11	124,735,328	124,751,367	16,040
ENST00000538940.5	hg19	chr11	124,738,364	124,751,362	12,999
ENST00000543966.5	hg19	chr11	124,747,284	124,751,359	4,076

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