rs2517294280

This variant is located in the CNOT3 gene.

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ClinVar annotation

Likely Pathogenic★★★☆

2 submitters1 publication

Intellectual developmental disorder with speech delay, autism, and dysmorphic facies

Involved in regulation of stem cell population maintenance. Part of CCR4-NOT complex. [provided by Alliance of Genome Resources, Jul 2025]

Gene information from NCBI Gene. Variant classifications from ClinVar.

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