NDUFAF8
NADH:ubiquinone oxidoreductase complex assembly factor 8
Summary
Involved in mitochondrial respiratory chain complex I assembly. Located in mitochondrial matrix. Implicated in nuclear type mitochondrial complex I deficiency 34. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants16 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs74778772 | 17:79,213,141 | C/T | — | benign |
| rs1318084629 | 17:79,213,164 | A/G | — | pathogenic |
| rs531171371 | 17:79,213,180 | C/A | — | uncertain significance |
| rs1007712101 | 17:79,213,182 | G/T | — | uncertain significance |
| rs377540343 | 17:79,213,191 | C/T | — | uncertain significance |
| rs2659009 | 17:79,213,305 | G/A | — | benign |
| rs374420845 | 17:79,213,403 | G/T | — | likely benign |
| rs1598368033 | 17:79,213,448 | C/G | — | likely pathogenic |
| rs917453527 | 17:79,213,453 | C/A | — | uncertain significance |
| rs60236609 | 17:79,213,504 | C/G | — | benign |
| rs2255166 | 17:79,213,562 | T/C | — | benign |
| rs745332456 | 17:79,213,749 | C/T | — | pathogenic |
| rs59124084 | 17:79,214,722 | A/G | — | benign |
| rs371310918 | 17:79,214,794 | A/C | — | uncertain significance |
| rs76221565 | 17:79,214,927 | C/T | — | benign |
| rs112417848 | 17:79,215,019 | C/T | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.