NDUFAF2
NADH:ubiquinone oxidoreductase complex assembly factor 2
Summary
NADH:ubiquinone oxidoreductase (complex I) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. This gene encodes a complex I assembly factor. Mutations in this gene cause progressive encephalopathy resulting from mitochondrial complex I deficiency. [provided by RefSeq, Jul 2008]
Known Variants108 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs886060723 | 5:60,240,973 | A/C | — | uncertain significance |
| rs376045901 | 5:60,241,017 | G/C | — | uncertain significance |
| rs886060724 | 5:60,241,020 | G/T | — | uncertain significance |
| rs200299226 | 5:60,241,050 | G/A | — | likely benign |
| rs1554076306 | 5:60,241,083 | A/T | — | pathogenic |
| rs748612232 | 5:60,241,088 | T/C | — | likely benign |
| rs1554076309 | 5:60,241,091 | G/A | — | pathogenic |
| rs745588302 | 5:60,241,106 | C/T | — | likely benign |
| rs2531892130 | 5:60,241,112 | C/G | — | likely benign |
| rs1750415111 | 5:60,241,113 | T/C | — | likely benign |
| rs1750415294 | 5:60,241,118 | G/A | — | conflicting classifications of pathogenicity |
| rs761787794 | 5:60,241,123 | C/T | — | conflicting classifications of pathogenicity |
| rs2531892197 | 5:60,241,124 | G/A | — | likely benign |
| rs141492697 | 5:60,241,132 | G/A | — | uncertain significance |
| rs760999419 | 5:60,241,136 | A/C | — | uncertain significance |
| rs755078834 | 5:60,241,144 | A/G | — | uncertain significance |
| rs946253889 | 5:60,241,151 | G/A | — | likely benign |
| rs1167914497 | 5:60,241,157 | G/C | — | likely benign |
| rs1554076318 | 5:60,241,161 | C/T | — | likely pathogenic |
| rs753215899 | 5:60,241,162 | A/T | — | conflicting classifications of pathogenicity |
| rs919165236 | 5:60,241,175 | A/G | — | likely benign |
| rs1040183033 | 5:60,241,176 | T/C | — | uncertain significance |
| rs755836979 | 5:60,241,177 | A/G | — | uncertain significance |
| rs779872068 | 5:60,241,180 | A/G | — | conflicting classifications of pathogenicity |
| rs748885030 | 5:60,241,181 | C/T | — | likely benign |
| rs773988847 | 5:60,241,182 | T/C | — | uncertain significance |
| rs1271083313 | 5:60,241,184 | C/T | — | likely benign |
| rs201295435 | 5:60,241,187 | C/T | — | likely benign |
| rs2531892376 | 5:60,241,193 | G/A | — | likely benign |
| rs376747316 | 5:60,241,202 | C/T | — | conflicting classifications of pathogenicity |
| rs1561523202 | 5:60,241,205 | G/C | — | uncertain significance |
| rs2531892421 | 5:60,241,206 | A/G | — | uncertain significance |
| rs181500190 | 5:60,241,220 | G/T | — | likely benign |
| rs752054337 | 5:60,241,225 | G/A | — | likely benign |
| rs158920 | 5:60,241,268 | G/A | — | benign |
| rs4647034 | 5:60,241,450 | C/T | — | likely benign |
| rs158916 | 5:60,245,145 | A/G | upstream gene variant | — |
| rs72757186 | 5:60,246,469 | T/G | — | — |
| rs2694528 | 5:60,273,923 | C/G | — | — |
| rs142652393 | 5:60,311,515 | A/G | intron variant | — |
| rs10939879 | 5:60,315,823 | T/C | intron variant | — |
| rs62367903 | 5:60,318,973 | A/C | — | — |
| rs72759206 | 5:60,338,844 | C/T | — | — |
| rs34642 | 5:60,345,751 | C/T | intron variant | — |
| rs78709717 | 5:60,349,003 | A/G | regulatory region variant | — |
| rs72759215 | 5:60,352,583 | C/A | — | — |
| rs248686 | 5:60,354,522 | C/T | intron variant | — |
| rs17529085 | 5:60,368,781 | G/T | — | benign |
| rs77519513 | 5:60,368,882 | C/T | — | benign |
| rs2532030530 | 5:60,368,933 | A/C | — | likely benign |
| rs2532030534 | 5:60,368,936 | G/A | — | likely benign |
| rs537327206 | 5:60,368,938 | C/G | — | conflicting classifications of pathogenicity |
| rs2532030552 | 5:60,368,941 | T/C | — | likely benign |
| rs775605330 | 5:60,368,955 | A/C | missense variant | pathogenic |
| rs768677930 | 5:60,368,959 | T/C | — | likely benign |
| rs1752321893 | 5:60,368,960 | A/G | — | uncertain significance |
| rs137852863 | 5:60,368,963 | C/T | stop gained | pathogenic |
| rs762449995 | 5:60,368,964 | G/A | — | uncertain significance |
| rs750914742 | 5:60,368,991 | A/G | — | uncertain significance |
| rs1461599762 | 5:60,368,992 | T/C | — | likely benign |
| rs2532030626 | 5:60,368,995 | A/G | — | likely benign |
| rs752303383 | 5:60,369,007 | C/T | — | likely benign |
| rs147317760 | 5:60,369,016 | A/C | — | likely benign |
| rs769579395 | 5:60,369,020 | G/C | — | conflicting classifications of pathogenicity |
| rs768892194 | 5:60,369,035 | T/C | missense variant | uncertain significance |
| rs1374422084 | 5:60,369,061 | A/G | — | likely benign |
| rs10471502 | 5:60,369,083 | A/G | — | benign |
| rs2080870 | 5:60,388,313 | A/T | intron variant | — |
| rs80113651 | 5:60,394,706 | T/A | — | benign |
| rs148765359 | 5:60,394,772 | G/A | — | likely benign |
| rs116558787 | 5:60,394,799 | A/C | — | likely benign |
| rs115892013 | 5:60,394,802 | A/T | — | benign |
| rs1752675323 | 5:60,394,805 | A/G | — | likely benign |
| rs2532053040 | 5:60,394,809 | T/C | — | likely benign |
| rs2532053042 | 5:60,394,810 | T/A | — | likely benign |
| rs2532053044 | 5:60,394,812 | T/C | — | likely benign |
| rs772294726 | 5:60,394,822 | G/A | — | pathogenic |
| rs573197220 | 5:60,394,838 | A/G | — | likely benign |
| rs2532053113 | 5:60,394,874 | G/A | — | likely benign |
| rs373033855 | 5:60,394,877 | G/A | — | likely benign |
| rs114549188 | 5:60,395,019 | T/G | — | likely benign |
| rs810884 | 5:60,448,276 | A/G | — | benign |
| rs2478390873 | 5:60,448,512 | C/T | — | likely benign |
| rs2478390906 | 5:60,448,523 | A/G | — | likely benign |
| rs544641519 | 5:60,448,526 | T/C | — | likely benign |
| rs781737888 | 5:60,448,535 | T/C | — | uncertain significance |
| rs2478390956 | 5:60,448,537 | C/T | — | likely benign |
| rs2478390962 | 5:60,448,539 | A/G | — | likely benign |
| rs191388646 | 5:60,448,572 | A/T | — | likely benign |
| rs958567522 | 5:60,448,599 | A/G | — | likely benign |
| rs1361332952 | 5:60,448,602 | A/G | — | likely benign |
| rs2111838875 | 5:60,448,617 | G/C | — | uncertain significance |
| rs2478391150 | 5:60,448,620 | C/T | — | likely benign |
| rs759381594 | 5:60,448,632 | C/T | — | likely benign |
| rs758739056 | 5:60,448,644 | A/G | — | likely benign |
| rs992697884 | 5:60,448,672 | T/C | — | uncertain significance |
| rs770172045 | 5:60,448,686 | T/A | — | conflicting classifications of pathogenicity |
| rs749677218 | 5:60,448,694 | A/T | — | conflicting classifications of pathogenicity |
| rs550008432 | 5:60,448,695 | A/G | — | conflicting classifications of pathogenicity |
| rs967126073 | 5:60,448,699 | C/A | — | uncertain significance |
Showing 100 of 108 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.