DEGS1
delta 4-desaturase, sphingolipid 1
Summary
This gene encodes a member of the membrane fatty acid desaturase family which is responsible for inserting double bonds into specific positions in fatty acids. This protein contains three His-containing consensus motifs that are characteristic of a group of membrane fatty acid desaturases. It is predicted to be a multiple membrane-spanning protein localized to the endoplasmic reticulum. Overexpression of this gene inhibited biosynthesis of the EGF receptor, suggesting a possible role of a fatty acid desaturase in regulating biosynthetic processing of the EGF receptor. [provided by RefSeq, Mar 2010]
Known Variants68 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs71644778 | 1:224,370,813 | T/C | — | benign |
| rs2527259540 | 1:224,371,040 | T/C | — | likely pathogenic |
| rs2102650459 | 1:224,371,041 | G/A | — | uncertain significance |
| rs2527259690 | 1:224,371,060 | G/T | — | pathogenic |
| rs201220123 | 1:224,371,065 | C/A | — | likely benign |
| rs1156445260 | 1:224,371,087 | C/T | — | pathogenic |
| rs2102650545 | 1:224,371,098 | C/T | — | likely benign |
| rs953781515 | 1:224,371,099 | G/C | — | uncertain significance |
| rs1405720523 | 1:224,371,102 | C/G | — | uncertain significance |
| rs2102650567 | 1:224,371,121 | G/C | — | likely pathogenic |
| rs1658285861 | 1:224,371,126 | G/A | — | uncertain significance |
| rs780472867 | 1:224,377,295 | A/G | — | uncertain significance |
| rs1388884067 | 1:224,377,306 | T/C | — | conflicting classifications of pathogenicity |
| rs1658480627 | 1:224,377,331 | G/C | — | uncertain significance |
| rs748593113 | 1:224,377,354 | C/T | — | uncertain significance |
| rs772169274 | 1:224,377,365 | G/A | — | uncertain significance |
| rs2102655946 | 1:224,377,377 | G/A | — | uncertain significance |
| rs372650988 | 1:224,377,379 | A/C | — | likely benign |
| rs759581225 | 1:224,377,388 | G/T | — | uncertain significance |
| rs138717762 | 1:224,377,389 | G/A | — | benign |
| rs752521494 | 1:224,377,399 | G/C | missense variant | — |
| rs1328551220 | 1:224,377,433 | C/T | — | likely benign |
| rs1323619855 | 1:224,377,437 | A/G | — | uncertain significance |
| rs755455003 | 1:224,377,446 | A/T | — | uncertain significance |
| rs1374266156 | 1:224,377,447 | T/C | — | uncertain significance |
| rs142757271 | 1:224,377,487 | T/C | — | likely benign |
| rs369549653 | 1:224,377,502 | A/C | — | likely benign |
| rs1382083552 | 1:224,377,516 | G/A | — | pathogenic |
| rs1280845604 | 1:224,377,533 | A/G | — | pathogenic |
| rs751125072 | 1:224,377,551 | C/T | — | uncertain significance |
| rs1269455128 | 1:224,377,552 | C/A | — | uncertain significance |
| rs377362966 | 1:224,377,560 | A/G | — | conflicting classifications of pathogenicity |
| rs2527279216 | 1:224,377,579 | A/T | — | uncertain significance |
| rs1558209997 | 1:224,377,591 | A/G | — | conflicting classifications of pathogenicity |
| rs1367958450 | 1:224,377,593 | C/T | — | likely pathogenic |
| rs753256626 | 1:224,377,594 | G/A | — | uncertain significance |
| rs747376061 | 1:224,377,614 | G/A | — | likely benign |
| rs371144296 | 1:224,377,616 | C/T | — | likely benign |
| rs1558210097 | 1:224,377,696 | C/G | — | uncertain significance |
| rs778195333 | 1:224,377,703 | T/C | — | likely benign |
| rs932183417 | 1:224,377,713 | C/T | — | pathogenic |
| rs2527280028 | 1:224,377,714 | G/C | — | uncertain significance |
| rs191144864 | 1:224,377,720 | T/A | — | benign |
| rs6686449 | 1:224,377,724 | C/T | — | benign |
| rs184105229 | 1:224,377,744 | C/T | — | uncertain significance |
| rs771864122 | 1:224,377,761 | A/G | — | conflicting classifications of pathogenicity |
| rs2527280384 | 1:224,377,765 | C/T | — | likely benign |
| rs772799051 | 1:224,377,766 | C/T | — | likely benign |
| rs765985353 | 1:224,377,769 | G/A | — | likely benign |
| rs776185644 | 1:224,377,778 | C/G | — | benign |
| rs752015398 | 1:224,377,813 | T/C | — | uncertain significance |
| rs549896177 | 1:224,377,830 | A/G | — | uncertain significance |
| rs146461576 | 1:224,377,904 | C/G | — | uncertain significance |
| rs760043727 | 1:224,377,953 | A/G | — | uncertain significance |
| rs759023173 | 1:224,377,955 | C/A | — | likely benign |
| rs768180196 | 1:224,377,960 | A/G | — | pathogenic |
| rs770197183 | 1:224,377,971 | C/T | — | likely pathogenic |
| rs61732863 | 1:224,377,996 | A/G | — | benign |
| rs377178997 | 1:224,378,005 | G/C | — | uncertain significance |
| rs55977521 | 1:224,378,232 | G/T | — | benign |
| rs1273116884 | 1:224,380,033 | G/A | — | likely pathogenic |
| rs1558211070 | 1:224,380,047 | C/T | — | likely pathogenic |
| rs1572045183 | 1:224,380,086 | G/A | — | uncertain significance |
| rs148333931 | 1:224,380,094 | G/C | — | likely benign |
| rs748739641 | 1:224,380,098 | T/C | — | uncertain significance |
| rs765444071 | 1:224,380,158 | A/C | — | uncertain significance |
| rs908804 | 1:224,380,234 | A/G | — | benign |
| rs10916458 | 1:224,380,324 | A/G | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.