CP ceruloplasmin
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 2 | 112 |
| Likely pathogenic | 0 | 26 |
| Benign | 0 | 184 |
| Likely benign | 0 | 346 |
| Conflicting classifications of pathogenicity | 0 | 62 |
| not provided | 0 | 4 |
| Uncertain significance | 0 | 508 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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166 |
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906 |
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60 |
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
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| Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | AB073614 |
| SYNONYM | CP-2 |
| MIM | 117700 OMIM |
| HGNC | HGNC:2295 HGNC |
| Ensembl | ENSG00000047457 Ensembl |
| AllianceGenome | HGNC:2295 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000264613.11 | hg38 | chr3 | 149,172,497 | 149,221,829 | 49,333 |
| ENST00000264613.11 | hg19 | chr3 | 148,890,284 | 148,939,616 | 49,333 |
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