STK33 serine/threonine kinase 33
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely pathogenic | 0 | 2 |
Likely benign | 0 | 8 |
Conflicting classifications of pathogenicity | 0 | 2 |
Uncertain significance | 0 | 66 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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74 |
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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
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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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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 | SPGF93 |
MIM | 607670 OMIM |
HGNC | HGNC:14568 HGNC |
Ensembl | ENSG00000130413 Ensembl |
AllianceGenome | HGNC:14568 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000534493.5 | hg38 | chr11 | 8,392,187 | 8,594,155 | 201,969 |
ENST00000396672.5 | hg38 | chr11 | 8,391,871 | 8,593,956 | 202,086 |
ENST00000358872.7 | hg38 | chr11 | 8,391,871 | 8,594,228 | 202,358 |
ENST00000315204.5 | hg38 | chr11 | 8,391,871 | 8,593,956 | 202,086 |
ENST00000447869.5 | hg38 | chr11 | 8,391,871 | 8,475,824 | 83,954 |
ENST00000687296.1 | hg38 | chr11 | 8,391,870 | 8,594,228 | 202,359 |
ENST00000447869.5 | hg19 | chr11 | 8,413,418 | 8,497,371 | 83,954 |
ENST00000315204.5 | hg19 | chr11 | 8,413,418 | 8,615,503 | 202,086 |
ENST00000396672.5 | hg19 | chr11 | 8,413,418 | 8,615,503 | 202,086 |
ENST00000358872.7 | hg19 | chr11 | 8,413,418 | 8,615,775 | 202,358 |
ENST00000534493.5 | hg19 | chr11 | 8,413,734 | 8,615,702 | 201,969 |
ENST00000687296.1 | hg19 | chr11 | 8,413,417 | 8,615,775 | 202,359 |
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