rs2498069574

This variant is located in the NDUFA9 gene.

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ClinVar annotation

Likely Pathogenic★☆☆☆
1 submitter1 publication

Mitochondrial complex I deficiency, nuclear type 26

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About NDUFA9

The encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex I), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane. A pseudogene has been identified on chromosome 12. [provided by RefSeq, May 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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