BIRC5 baculoviral IAP repeat containing 5
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 2 |
Likely benign | 0 | 6 |
Uncertain significance | 0 | 24 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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32 |
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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
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 |
Search Word
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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Category | : |
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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 | API4 |
SYNONYM | EPR-1 |
MIM | 603352 OMIM |
HGNC | HGNC:593 HGNC |
Ensembl | ENSG00000089685 Ensembl |
AllianceGenome | HGNC:593 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000590449.1 | hg38 | chr17 | 78,214,280 | 78,215,099 | 820 |
ENST00000350051.8 | hg38 | chr17 | 78,214,253 | 78,225,635 | 11,383 |
ENST00000301633.8 | hg38 | chr17 | 78,214,186 | 78,225,636 | 11,451 |
ENST00000374948.6 | hg38 | chr17 | 78,214,264 | 78,225,636 | 11,373 |
ENST00000592734.5 | hg38 | chr17 | 78,214,317 | 78,222,992 | 8,676 |
ENST00000301633.8 | hg19 | chr17 | 76,210,267 | 76,221,717 | 11,451 |
ENST00000350051.8 | hg19 | chr17 | 76,210,334 | 76,221,716 | 11,383 |
ENST00000374948.6 | hg19 | chr17 | 76,210,345 | 76,221,717 | 11,373 |
ENST00000590449.1 | hg19 | chr17 | 76,210,361 | 76,211,180 | 820 |
ENST00000592734.5 | hg19 | chr17 | 76,210,398 | 76,219,073 | 8,676 |
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