PBK PDZ binding kinase
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 4 |
not provided | 3 | 0 |
Uncertain significance | 0 | 24 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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28 |
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0 |
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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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 |
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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 | |||
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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 | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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SYNONYM | CT84 |
SYNONYM | HEL164 |
SYNONYM | Nori-3 |
SYNONYM | SPK |
SYNONYM | TOPK |
MIM | 611210 OMIM |
HGNC | HGNC:18282 HGNC |
Ensembl | ENSG00000168078 Ensembl |
AllianceGenome | HGNC:18282 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000522944.5 | hg38 | chr8 | 27,810,201 | 27,838,082 | 27,882 |
ENST00000301905.9 | hg38 | chr8 | 27,809,624 | 27,837,817 | 28,194 |
ENST00000301905.9 | hg19 | chr8 | 27,667,141 | 27,695,334 | 28,194 |
ENST00000522944.5 | hg19 | chr8 | 27,667,718 | 27,695,599 | 27,882 |
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