rs2536730692

This variant is located in the CUX1 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆
1 submitter1 publication

Global developmental delay with or without impaired intellectual development

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About CUX1

The protein encoded by this gene is a member of the homeodomain family of DNA binding proteins. It may regulate gene expression, morphogenesis, and differentiation and it may also play a role in the cell cycle progession. Several alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Feb 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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