rs145872059

This variant is located in the TPRKB gene.

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ClinVar annotation

Uncertain Significance★★★☆

3 submitters1 publication

not provided; not specified; TPRKB-related disorder

About TPRKB

Enables protein kinase binding activity. Involved in tRNA threonylcarbamoyladenosine modification. Located in cytosol and nucleus. Part of EKC/KEOPS complex. Implicated in Galloway-Mowat syndrome 5. [provided by Alliance of Genome Resources, Jul 2025]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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