CDK19 Chromosome 6
Cyclin dependent kinase 19
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What This Gene Does
This gene encodes a protein that is one of the components of the Mediator co-activator complex. The Mediator complex is a multi-protein complex required for transcriptional activation by DNA binding transcription factors of genes transcribed by RNA polymerase II. The protein encoded by this gene is similar to cyclin-dependent kinase 8 which can also be a component of the Mediator complex. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]
Gene Info
Gene Group
"Cyclin dependent kinases|Mediator complex"
Locus Type
gene with protein product
Location
6q21
Ensembl
ENSG00000155111
Associated Conditions (4)
Developmental and epileptic encephalopathy
87
CDK19-related disorder
Inborn genetic diseases
Key Variants
RS1779473650
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 87, CDK19-related disorder
Health Risk
RS1783517622
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 87, Developmental and epileptic encephalopathy
Health Risk
RS1779472995
Likely pathogenic
Health Risk
RS1779473436
Likely pathogenic
Developmental and epileptic encephalopathy, 87, Developmental and epileptic encephalopathy
Health Risk
RS1783518890
Likely pathogenic
Health Risk
RS1236246272
Pathogenic
Developmental and epileptic encephalopathy, 87, Developmental and epileptic encephalopathy
Health Risk
RS1783519120
Pathogenic
Developmental and epileptic encephalopathy, 87, Developmental and epileptic encephalopathy
Health Risk
RS1783518295
Pathogenic/Likely pathogenic
Developmental and epileptic encephalopathy, 87, Developmental and epileptic encephalopathy
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1779473650 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 87, CDK19-related disorder |
| RS1783517622 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 87, Developmental and epileptic encephalopathy |
| RS1779472995 | Health Risk | Likely pathogenic | — |
| RS1779473436 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 87, Developmental and epileptic encephalopathy |
| RS1783518890 | Health Risk | Likely pathogenic | — |
| RS1236246272 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 87, Developmental and epileptic encephalopathy |
| RS1783519120 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 87, Developmental and epileptic encephalopathy |
| RS1783518295 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 87, Developmental and epileptic encephalopathy |