CENPO centromere protein O
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 6 |
Benign | 0 | 10 |
Likely benign | 0 | 42 |
Conflicting classifications of pathogenicity | 0 | 2 |
not provided | 2 | 0 |
risk factor | 0 | 2 |
Uncertain significance | 0 | 56 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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6 |
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100 |
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6 |
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 |
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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Search word | : | |
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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 |
---|---|
SYNONYM | CENP-O |
SYNONYM | ICEN-36 |
SYNONYM | MCM21R |
MIM | 611504 OMIM |
HGNC | HGNC:28152 HGNC |
Ensembl | ENSG00000138092 Ensembl |
AllianceGenome | HGNC:28152 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000473706.5 | hg38 | chr2 | 24,793,145 | 24,822,376 | 29,232 |
ENST00000380834.7 | hg38 | chr2 | 24,793,425 | 24,822,376 | 28,952 |
ENST00000260662.2 | hg38 | chr2 | 24,793,462 | 24,822,373 | 28,912 |
ENST00000473706.5 | hg19 | chr2 | 25,016,014 | 25,045,245 | 29,232 |
ENST00000380834.7 | hg19 | chr2 | 25,016,294 | 25,045,245 | 28,952 |
ENST00000260662.2 | hg19 | chr2 | 25,016,331 | 25,045,242 | 28,912 |
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