rs2469453674

This variant is located in the CNOT9 gene.

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ClinVar annotation

Likely Pathogenic★☆☆☆
1 submitter1 publication

CNOT9-associated neurodevelopmental disorder

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About CNOT9

This gene encodes a member of the highly conserved RCD1 protein family. The encoded protein is a transcriptional cofactor and a core protein of the CCR4-NOT complex. It may be involved in signal transduction as well as retinoic acid-regulated cell differentiation and development. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2012]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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