rs730882205

This is a variant in the ZNF526 gene that changes a lysine to an threonine.

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ClinVar annotation

Pathogenic★☆☆☆
2 submitters2 publications

Dentici-Novelli neurodevelopmental syndrome; Intellectual disability; Noonan-like facies; Pulmonic stenosis

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About ZNF526

Predicted to enable DNA binding activity and zinc ion binding activity. Predicted to be located in nucleus. [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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