CBX5 chromobox 5
Clinical Significance
MGeND | ClinVar |
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Ranking
ClinVar | |
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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 | HEL25 |
SYNONYM | HP1 |
SYNONYM | HP1A |
SYNONYM | HP1alpha |
MIM | 604478 OMIM |
HGNC | HGNC:1555 HGNC |
Ensembl | ENSG00000094916 Ensembl |
AllianceGenome | HGNC:1555 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000209875.9 | hg38 | chr12 | 54,230,942 | 54,280,122 | 49,181 |
ENST00000550411.5 | hg38 | chr12 | 54,241,755 | 54,259,545 | 17,791 |
ENST00000439541.6 | hg38 | chr12 | 54,240,625 | 54,259,592 | 18,968 |
ENST00000209875.9 | hg19 | chr12 | 54,624,726 | 54,673,906 | 49,181 |
ENST00000439541.6 | hg19 | chr12 | 54,634,409 | 54,653,376 | 18,968 |
ENST00000550411.5 | hg19 | chr12 | 54,635,539 | 54,653,329 | 17,791 |
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