rs750930063

This variant is located in the FASTKD2 gene.

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ClinVar annotation

Uncertain Significance★★★☆
4 submitters2 publications

not provided; Inborn genetic diseases; Combined oxidative phosphorylation deficiency 44

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About FASTKD2

This gene encodes a protein that is localized in the mitochondrial inner compartment and that may play a role in mitochondrial apoptosis. Nonsense mutations have been reported to result in cytochrome c oxidase deficiency. [provided by RefSeq, Oct 2008]

View all FASTKD2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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