rs2581453

This variant is located in the SLC30A9 gene.

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ClinVar annotation

Benign★★★☆
2 submitters1 publication

Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome; not provided

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About SLC30A9

Enables zinc ion transmembrane transporter activity. Involved in intracellular zinc ion homeostasis; regulation of mitochondrion organization; and zinc ion transport. Located in several cellular components, including cytoplasmic vesicle; endoplasmic reticulum; and mitochondrial membrane. [provided by Alliance of Genome Resources, Jul 2025]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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