NDUFS5
NADH:ubiquinone oxidoreductase subunit S5
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. [provided by RefSeq, May 2010]
Known Variants11 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs61734091 | 1:39,494,426 | C/T | — | benign |
| rs370024650 | 1:39,494,538 | G/A | — | uncertain significance |
| rs2521594386 | 1:39,494,583 | T/C | — | uncertain significance |
| rs541997196 | 1:39,494,586 | G/A | — | likely benign |
| rs368988409 | 1:39,494,602 | G/A | — | uncertain significance |
| rs534248873 | 1:39,495,655 | C/T | — | — |
| rs775526207 | 1:39,500,064 | A/T | — | uncertain significance |
| rs774633528 | 1:39,500,077 | G/T | — | uncertain significance |
| rs149994227 | 1:39,500,119 | A/G | — | uncertain significance |
| rs192512172 | 1:39,500,140 | A/C | — | uncertain significance |
| rs6981 | 1:39,500,186 | A/G | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.