rs2468508886

This variant is located in the TMEM163 gene.

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ClinVar annotation

Pathogenic

1 submitter1 publication

Leukodystrophy, hypomyelinating, 25

About TMEM163

Predicted to enable zinc ion binding activity. Involved in myelination and zinc export across plasma membrane. Predicted to be located in early endosome membrane. Predicted to be active in plasma membrane and synaptic vesicle membrane. Implicated in hypomyelinating leukodystrophy 25. [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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