EPHB1 EPH receptor B1
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 6 |
Likely benign | 0 | 6 |
not provided | 32 | 0 |
Uncertain significance | 0 | 78 |
Ranking
ClinVar | |
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0 |
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0 |
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2 |
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86 |
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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
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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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 | ELK |
SYNONYM | EPHT2 |
SYNONYM | Hek6 |
SYNONYM | NET |
MIM | 600600 OMIM |
HGNC | HGNC:3392 HGNC |
Ensembl | ENSG00000154928 Ensembl |
AllianceGenome | HGNC:3392 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000647596.1 | hg38 | chr3 | 134,795,292 | 135,259,754 | 464,463 |
ENST00000493838.1 | hg38 | chr3 | 135,067,532 | 135,259,370 | 191,839 |
ENST00000398015.8 | hg38 | chr3 | 134,795,260 | 135,260,467 | 465,208 |
ENST00000398015.8 | hg19 | chr3 | 134,514,102 | 134,979,309 | 465,208 |
ENST00000647596.1 | hg19 | chr3 | 134,514,134 | 134,978,596 | 464,463 |
ENST00000493838.1 | hg19 | chr3 | 134,786,374 | 134,978,212 | 191,839 |
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