rs2490935545

This variant is located in the SPOUT1 gene.

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ClinVar annotation

Likely Pathogenic★☆☆☆

2 submitters2 publications

Neurodevelopmental disorder; Neurodevelopmental disorder with poor growth, seizures, and brain abnormalities

About SPOUT1

Enables miRNA binding activity. Involved in maintenance of centrosome location and miRNA processing. Acts upstream of with a positive effect on post-transcriptional regulation of gene expression. Located in kinetochore; mitotic spindle; and spindle pole centrosome. [provided by Alliance of Genome Resources, Apr 2025]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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