rs1425327265

This variant is located in the NDUFA11 gene.

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ClinVar annotation

Likely Benign
1 submitter

NDUFA11-related disorder

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About NDUFA11

This gene encodes a subunit of the membrane-bound mitochondrial complex I. Complex I is composed of numerous subunits and functions as the NADH-ubiquinol reductase of the mitochondrial electron transport chain. Mutations in this gene are associated with severe mitochondrial complex I deficiency. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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