rs749190523

This is a stop gained variant in the ZNF335 gene.

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ClinVar annotation

Pathogenic★☆☆☆
2 submitters2 publications

Microcephalic primordial dwarfism due to ZNF335 deficiency

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About ZNF335

The protein encoded by this gene enhances transcriptional activation by ligand-bound nuclear hormone receptors. However, it does this not by direct interaction with the receptor, but by direct interaction with the nuclear hormone receptor transcriptional coactivator NRC. The encoded protein may function by altering local chromatin structure. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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