NDUFAF6
NADH:ubiquinone oxidoreductase complex assembly factor 6
Summary
This gene encodes a protein that localizes to mitochondria and contains a predicted phytoene synthase domain. The encoded protein plays an important role in the assembly of complex I (NADH-ubiquinone oxidoreductase) of the mitochondrial respiratory chain through regulation of subunit ND1 biogenesis. Mutations in this gene are associated with complex I enzymatic deficiency. [provided by RefSeq, Nov 2011]
Known Variants228 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs12546365 | 8:95,911,477 | T/C | upstream gene variant | — |
| rs756211302 | 8:95,917,611 | G/T | — | — |
| rs12548367 | 8:95,929,202 | C/T | intron variant | — |
| rs7845219 | 8:95,937,502 | T/C | downstream gene variant | — |
| rs13255935 | 8:95,965,685 | C/A | upstream gene variant | — |
| rs13257021 | 8:95,965,695 | A/G | upstream gene variant | — |
| rs572547 | 8:95,966,286 | A/G | upstream gene variant | — |
| rs10808671 | 8:95,967,372 | A/G | downstream gene variant | — |
| rs10956933 | 8:95,967,688 | C/G | downstream gene variant | — |
| rs10429294 | 8:95,969,322 | C/A | — | — |
| rs9297949 | 8:95,969,445 | A/T | — | — |
| rs2011566 | 8:95,971,921 | G/C | — | — |
| rs896847 | 8:95,972,551 | G/A | regulatory region variant | — |
| rs7835379 | 8:95,975,080 | G/A | intron variant | — |
| rs13270641 | 8:95,985,871 | G/A | — | — |
| rs10081474 | 8:95,985,909 | C/A | downstream gene variant | — |
| rs7823886 | 8:95,986,459 | A/G | — | — |
| rs575804091 | 8:95,986,482 | A/G | — | — |
| rs10099059 | 8:95,986,972 | G/C | coding sequence variant | — |
| rs6984240 | 8:95,988,381 | C/T | upstream gene variant | — |
| rs2340534 | 8:95,992,330 | G/A | intron variant | — |
| rs61596977 | 8:95,997,165 | C/T | intron variant | — |
| rs3019173 | 8:96,020,974 | T/C | intron variant | — |
| rs28616734 | 8:96,021,443 | C/T | intron variant | — |
| rs77790737 | 8:96,037,156 | A/G | — | benign |
| rs199563102 | 8:96,037,188 | T/G | — | likely benign |
| rs202043750 | 8:96,037,206 | G/T | — | benign |
| rs985685952 | 8:96,037,212 | T/C | — | likely benign |
| rs532058076 | 8:96,037,232 | G/T | — | conflicting classifications of pathogenicity |
| rs1284681229 | 8:96,037,237 | A/C | — | pathogenic |
| rs552141388 | 8:96,037,238 | T/C | missense variant | pathogenic |
| rs760443320 | 8:96,037,244 | C/G | — | uncertain significance |
| rs897112748 | 8:96,037,245 | C/T | — | conflicting classifications of pathogenicity |
| rs1399757331 | 8:96,037,247 | C/A | — | uncertain significance |
| rs1299127967 | 8:96,037,248 | C/T | — | likely benign |
| rs1827902919 | 8:96,037,251 | G/A | — | likely benign |
| rs753477252 | 8:96,037,254 | C/A | — | uncertain significance |
| rs559043276 | 8:96,037,256 | G/T | — | uncertain significance |
| rs764734256 | 8:96,037,257 | C/T | — | likely benign |
| rs1827906295 | 8:96,037,258 | T/C | — | uncertain significance |
| rs756507716 | 8:96,037,265 | G/A | — | pathogenic |
| rs778021630 | 8:96,037,268 | G/A | — | uncertain significance |
| rs528386463 | 8:96,037,271 | C/A | — | uncertain significance |
| rs779263891 | 8:96,037,273 | T/C | — | likely benign |
| rs745925139 | 8:96,037,277 | G/C | — | uncertain significance |
| rs1242884994 | 8:96,037,278 | G/A | — | likely benign |
| rs2536704923 | 8:96,037,279 | C/T | — | uncertain significance |
| rs772191309 | 8:96,037,284 | C/G | — | likely benign |
| rs113557846 | 8:96,037,287 | C/T | — | likely benign |
| rs1827918113 | 8:96,037,288 | C/T | — | uncertain significance |
| rs922138593 | 8:96,037,289 | C/T | — | uncertain significance |
| rs1434847567 | 8:96,037,292 | G/A | — | uncertain significance |
| rs768378051 | 8:96,037,294 | C/T | — | likely benign |
| rs1261710063 | 8:96,037,299 | C/T | — | likely benign |
| rs964898409 | 8:96,037,301 | G/A | — | uncertain significance |
| rs1307126894 | 8:96,037,302 | C/T | — | likely benign |
| rs776291020 | 8:96,037,303 | C/T | — | uncertain significance |
| rs2131712745 | 8:96,037,309 | C/T | — | uncertain significance |
| rs764781969 | 8:96,037,311 | G/A | — | likely benign |
| rs943706263 | 8:96,037,318 | G/C | — | uncertain significance |
| rs201223057 | 8:96,037,319 | G/C | — | likely benign |
| rs2536705851 | 8:96,037,327 | G/C | — | uncertain significance |
| rs897029989 | 8:96,037,328 | C/G | — | uncertain significance |
| rs1192597043 | 8:96,037,331 | G/A | — | uncertain significance |
| rs570923866 | 8:96,037,333 | A/G | — | conflicting classifications of pathogenicity |
| rs766018030 | 8:96,037,340 | G/A | — | uncertain significance |
| rs2536706287 | 8:96,037,346 | C/T | — | uncertain significance |
| rs1827932905 | 8:96,037,348 | G/C | — | uncertain significance |
| rs753206462 | 8:96,037,352 | C/T | — | uncertain significance |
| rs983681408 | 8:96,037,364 | G/A | — | uncertain significance |
| rs863223930 | 8:96,037,375 | G/A | — | likely benign |
| rs757700186 | 8:96,037,384 | A/C | — | uncertain significance |
| rs868345341 | 8:96,037,387 | G/T | — | pathogenic |
| rs778984045 | 8:96,037,408 | G/A | — | uncertain significance |
| rs1399892173 | 8:96,037,418 | G/A | — | uncertain significance |
| rs746132516 | 8:96,037,422 | G/A | — | likely benign |
| rs2536707460 | 8:96,037,423 | G/T | — | likely pathogenic |
| rs1357527566 | 8:96,037,431 | G/A | — | likely benign |
| rs1057521397 | 8:96,037,451 | T/G | — | likely benign |
| rs10105437 | 8:96,044,042 | T/C | — | benign |
| rs11781001 | 8:96,044,076 | A/G | — | benign |
| rs10087047 | 8:96,044,121 | G/A | — | likely benign |
| rs372973430 | 8:96,044,227 | C/T | — | uncertain significance |
| rs1057519085 | 8:96,044,231 | A/T | missense variant | pathogenic |
| rs2536755956 | 8:96,044,237 | A/C | — | uncertain significance |
| rs997715661 | 8:96,044,245 | T/C | — | likely benign |
| rs116102145 | 8:96,044,247 | A/G | — | likely benign |
| rs758619898 | 8:96,044,248 | T/C | — | conflicting classifications of pathogenicity |
| rs34160178 | 8:96,044,250 | C/T | — | benign |
| rs1057519084 | 8:96,044,251 | T/C | missense variant | pathogenic |
| rs543121517 | 8:96,044,256 | G/C | — | likely benign |
| rs2536756258 | 8:96,044,262 | C/A | — | likely benign |
| rs1828914859 | 8:96,044,264 | C/G | — | uncertain significance |
| rs2131775130 | 8:96,044,291 | C/T | — | uncertain significance |
| rs774206879 | 8:96,044,298 | G/A | — | likely benign |
| rs142147073 | 8:96,044,300 | C/T | — | uncertain significance |
| rs137853184 | 8:96,044,321 | A/G | missense variant | pathogenic |
| rs776966483 | 8:96,044,329 | A/G | — | uncertain significance |
| rs762409603 | 8:96,044,338 | C/A | — | likely benign |
| rs7813759 | 8:96,044,414 | A/T | — | likely benign |
Showing 100 of 228 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.