rs1440180529

This variant is located in the CDK19 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

Inborn genetic diseases

About CDK19

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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