UPK3B uroplakin 3B
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely benign | 0 | 18 |
Uncertain significance | 0 | 48 |
Ranking
ClinVar | |
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0 |
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0 |
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2 |
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64 |
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0 |
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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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 | P35 |
SYNONYM | UP3B |
SYNONYM | UPIIIB |
MIM | 611887 OMIM |
HGNC | HGNC:21444 HGNC |
Ensembl | ENSG00000243566 Ensembl |
AllianceGenome | HGNC:21444 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000394849.1 | hg38 | chr7 | 76,510,615 | 76,515,456 | 4,842 |
ENST00000257632.9 | hg38 | chr7 | 76,510,525 | 76,515,456 | 4,932 |
ENST00000334348.8 | hg38 | chr7 | 76,510,552 | 76,516,522 | 5,971 |
ENST00000257632.9 | hg19 | chr7 | 76,139,842 | 76,144,773 | 4,932 |
ENST00000334348.8 | hg19 | chr7 | 76,139,869 | 76,145,839 | 5,971 |
ENST00000394849.1 | hg19 | chr7 | 76,139,932 | 76,144,773 | 4,842 |
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