RORB RAR related orphan receptor B
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 46 |
Likely pathogenic | 0 | 36 |
Benign | 0 | 40 |
Likely benign | 0 | 240 |
Conflicting classifications of pathogenicity | 0 | 26 |
risk factor | 0 | 2 |
Uncertain significance | 0 | 334 |
Ranking
ClinVar | |
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0 |
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0 |
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42 |
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642 |
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2 |
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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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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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 |
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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 | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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SYNONYM | EIG15 |
SYNONYM | NR1F2 |
SYNONYM | ROR-BETA |
SYNONYM | RORbeta |
SYNONYM | RZR-BETA |
SYNONYM | RZRB |
SYNONYM | bA133M9.1 |
MIM | 601972 OMIM |
HGNC | HGNC:10259 HGNC |
Ensembl | ENSG00000198963 Ensembl |
AllianceGenome | HGNC:10259 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000396204.2 | hg38 | chr9 | 74,615,600 | 74,687,201 | 71,602 |
ENST00000376896.8 | hg38 | chr9 | 74,497,335 | 74,693,177 | 195,843 |
ENST00000376896.8 | hg19 | chr9 | 77,112,251 | 77,308,093 | 195,843 |
ENST00000396204.2 | hg19 | chr9 | 77,230,516 | 77,302,117 | 71,602 |
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