rs201430951

This is a variant in the NUBPL gene that changes a leucine to an proline.

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ClinVar annotation

Pathogenic★★★☆
8 submitters15 publications

Inborn genetic diseases; Mitochondrial complex 1 deficiency, nuclear type 21; Mitochondrial complex I deficiency

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About NUBPL

This gene encodes a member of the Mrp/NBP35 ATP-binding proteins family. The encoded protein is required for the assembly of the respiratory chain NADH dehydrogenase (complex I), an oligomeric enzymatic complex located in the inner mitochondrial membrane. Mutations in this gene cause mitochondrial complex I deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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