rs1057519085

This is a variant in the NDUFAF6 gene that changes a aspartate to an valine.

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ClinVar annotation

Pathogenic
1 submitter1 publication

Mitochondrial complex 1 deficiency, nuclear type 17

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About NDUFAF6

This gene encodes a protein that localizes to mitochondria and contains a predicted phytoene synthase domain. The encoded protein plays an important role in the assembly of complex I (NADH-ubiquinone oxidoreductase) of the mitochondrial respiratory chain through regulation of subunit ND1 biogenesis. Mutations in this gene are associated with complex I enzymatic deficiency. [provided by RefSeq, Nov 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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