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NDUFS5

Synonyms
CI-15k, CI15K
External resources
Summary
This gene is a member of the NADH dehydrogenase (ubiquinone) iron-sulfur protein family. The encoded protein is a subunit of the NADH:ubiquinone oxidoreductase (complex I), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane. Alternative splicing results in multiple transcript variants and pseudogenes have been identified on chromosomes 1, 4 and 17.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
2,703
Likely benign
131
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on NDUFS5 gene.

Phenotype class
Patients in 3billion (%)

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