rs28939714

This is a variant in the NDUFS3 gene that changes a threonine to an isoleucine.

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ClinVar annotation

Pathogenic★☆☆☆
3 submitters2 publications

Mitochondrial complex 1 deficiency, nuclear type 8; Neurodevelopmental delay

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About NDUFS3

This gene encodes one of the iron-sulfur protein (IP) components of mitochondrial NADH:ubiquinone oxidoreductase (complex I). Mutations in this gene are associated with Leigh syndrome resulting from mitochondrial complex I deficiency.[provided by RefSeq, Apr 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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