SELE selectin E
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 14 |
Likely benign | 0 | 6 |
Uncertain significance | 0 | 70 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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88 |
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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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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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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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Target data | : |
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 | CD62E |
SYNONYM | ELAM |
SYNONYM | ELAM1 |
SYNONYM | ESEL |
SYNONYM | LECAM2 |
SYNONYM | selectin-e |
MIM | 131210 OMIM |
HGNC | HGNC:10718 HGNC |
Ensembl | ENSG00000007908 Ensembl |
AllianceGenome | HGNC:10718 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000367775.5 | hg38 | chr1 | 169,722,641 | 169,733,659 | 11,019 |
ENST00000367776.5 | hg38 | chr1 | 169,722,641 | 169,733,660 | 11,020 |
ENST00000367774.1 | hg38 | chr1 | 169,725,729 | 169,733,660 | 7,932 |
ENST00000367777.5 | hg38 | chr1 | 169,722,641 | 169,733,660 | 11,020 |
ENST00000333360.12 | hg38 | chr1 | 169,722,640 | 169,734,079 | 11,440 |
ENST00000333360.12 | hg19 | chr1 | 169,691,781 | 169,703,220 | 11,440 |
ENST00000367775.5 | hg19 | chr1 | 169,691,782 | 169,702,800 | 11,019 |
ENST00000367777.5 | hg19 | chr1 | 169,691,782 | 169,702,801 | 11,020 |
ENST00000367776.5 | hg19 | chr1 | 169,691,782 | 169,702,801 | 11,020 |
ENST00000367774.1 | hg19 | chr1 | 169,694,870 | 169,702,801 | 7,932 |
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