NDUFA7
NADH:ubiquinone oxidoreductase subunit A7
Summary
This gene encodes a subunit of NADH:ubiquinone oxidoreductase (complex I), which is a multiprotein complex located in the inner mitochondrial membrane. Complex I functions in the transfer of electrons from NADH to the respiratory chain. [provided by RefSeq, Mar 2011]
Known Variants9 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2232775 | 19:8,373,152 | T/C | missense variant | benign |
| rs116284384 | 19:8,374,884 | T/C | upstream gene variant | — |
| rs558131146 | 19:8,376,405 | T/G | — | uncertain significance |
| rs767492265 | 19:8,376,450 | G/A | — | uncertain significance |
| rs748877322 | 19:8,381,416 | G/A | — | uncertain significance |
| rs1970236972 | 19:8,381,459 | C/T | — | uncertain significance |
| rs753624288 | 19:8,386,221 | T/C | — | uncertain significance |
| rs866044741 | 19:8,386,238 | G/A | — | uncertain significance |
| rs786203997 | 19:8,386,415 | A/G | missense variant | pathogenic |
Gene information from NCBI Gene. Variant classifications from ClinVar.