ROBO3 roundabout guidance receptor 3
Information
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 | |
---|---|
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0 |
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0 |
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66 |
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448 |
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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
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Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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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 | |||
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Entry | Origin | Type | Annotation |
Search Word
Target data | : |
MGeND data only
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Category | : |
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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 | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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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 |
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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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