CCND2 cyclin D2
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 2 | 18 |
| Likely pathogenic | 0 | 10 |
| Benign | 0 | 38 |
| Likely benign | 0 | 96 |
| Conflicting classifications of pathogenicity | 0 | 6 |
| not provided | 65 | 2 |
| Uncertain significance | 0 | 80 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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30 |
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192 |
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4 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
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Disease area statistics
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Variants
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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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| Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
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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 | KIAK0002 |
| SYNONYM | MPPH3 |
| MIM | 123833 OMIM |
| HGNC | HGNC:1583 HGNC |
| Ensembl | ENSG00000118971 Ensembl |
| AllianceGenome | HGNC:1583 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000675880.1 | hg38 | chr12 | 4,273,762 | 4,305,350 | 31,589 |
| ENST00000261254.8 | hg38 | chr12 | 4,273,762 | 4,305,353 | 31,592 |
| ENST00000675880.1 | hg19 | chr12 | 4,382,928 | 4,414,516 | 31,589 |
| ENST00000261254.8 | hg19 | chr12 | 4,382,928 | 4,414,519 | 31,592 |
| Key | Value |
|---|---|
| strand | + |
| start | 4,382,901 |
| Gene Symbol | CCND2 |
| Entrez GeneId | 894 |
| Chr Band | 12p13 |
| end | 4,414,521 |
| chr | chr12 |
| Name | cyclin D2 |
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