B3GAT1 beta-1,3-glucuronyltransferase 1
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 2 |
Uncertain significance | 0 | 26 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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28 |
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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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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 | CD57 |
SYNONYM | GLCATP |
SYNONYM | GLCUATP |
SYNONYM | HNK1 |
SYNONYM | LEU7 |
SYNONYM | NK-1 |
SYNONYM | NK1 |
MIM | 151290 OMIM |
HGNC | HGNC:921 HGNC |
Ensembl | ENSG00000109956 Ensembl |
AllianceGenome | HGNC:921 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000524765.1 | hg38 | chr11 | 134,381,645 | 134,392,353 | 10,709 |
ENST00000392580.5 | hg38 | chr11 | 134,378,506 | 134,411,918 | 33,413 |
ENST00000312527.9 | hg38 | chr11 | 134,378,508 | 134,412,242 | 33,735 |
ENST00000392580.5 | hg19 | chr11 | 134,248,400 | 134,281,812 | 33,413 |
ENST00000312527.9 | hg19 | chr11 | 134,248,402 | 134,282,136 | 33,735 |
ENST00000524765.1 | hg19 | chr11 | 134,251,539 | 134,262,247 | 10,709 |
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