ROBO3 roundabout guidance receptor 3

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
Search Word
Target data :
MGeND data only
Category :
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Variant name Gene AA change CDS Japanese
frequency
TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence
Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
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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
Entry Origin Type Annotation
TypeID
SYNONYM HGPPS
SYNONYM HGPPS1
SYNONYM HGPS
SYNONYM RBIG1
SYNONYM RIG1
MIM 608630 OMIM
HGNC HGNC:13433 HGNC
Ensembl ENSG00000154134 Ensembl
AllianceGenome HGNC:13433
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
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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