rs751254936

This variant is located in the PSKH1 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About PSKH1

Enables protein serine/threonine kinase activity. Predicted to be involved in chromatin remodeling. Predicted to act upstream of or within determination of left/right symmetry; heart development; and protein phosphorylation. Located in several cellular components, including cilium; cytosol; and nuclear speck. [provided by Alliance of Genome Resources, Apr 2025]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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