rs563189672

This is a regulatory region variant variant in the NME3 gene.

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ClinVar annotation

Pathogenic★★★☆
7 submitters5 publications

Combined oxidative phosphorylation deficiency 32 (COXPD32)

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About NME3

Enables nucleoside diphosphate kinase activity. Involved in DNA repair; mitochondrial fusion; and nucleoside triphosphate biosynthetic process. Located in mitochondrial outer 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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