CDK5 cyclin dependent kinase 5
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 2 |
| Benign | 0 | 20 |
| Likely benign | 0 | 64 |
| Conflicting classifications of pathogenicity | 0 | 2 |
| Uncertain significance | 0 | 18 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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4 |
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98 |
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2 |
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 | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
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| 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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | LIS7 |
| SYNONYM | PSSALRE |
| MIM | 123831 OMIM |
| HGNC | HGNC:1774 HGNC |
| Ensembl | ENSG00000164885 Ensembl |
| AllianceGenome | HGNC:1774 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000485972.6 | hg38 | chr7 | 151,053,815 | 151,057,897 | 4,083 |
| ENST00000297518.4 | hg38 | chr7 | 151,054,009 | 151,057,848 | 3,840 |
| ENST00000485972.6 | hg19 | chr7 | 150,750,902 | 150,754,984 | 4,083 |
| ENST00000297518.4 | hg19 | chr7 | 150,751,096 | 150,754,935 | 3,840 |
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