CIDEC
cell death inducing DFFA like effector c
Summary
This gene encodes a member of the cell death-inducing DNA fragmentation factor-like effector family. Members of this family play important roles in apoptosis. The encoded protein promotes lipid droplet formation in adipocytes and may mediate adipocyte apoptosis. This gene is regulated by insulin and its expression is positively correlated with insulin sensitivity. Mutations in this gene may contribute to insulin resistant diabetes. A pseudogene of this gene is located on the short arm of chromosome 3. Alternatively spliced transcript variants that encode different isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
Known Variants43 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2479 | 3:9,908,525 | A/G | — | benign |
| rs28575453 | 3:9,908,656 | C/T | — | benign |
| rs1053239 | 3:9,908,749 | G/C | — | benign |
| rs138931759 | 3:9,908,855 | G/A | — | uncertain significance |
| rs1367322422 | 3:9,908,859 | C/G | — | uncertain significance |
| rs52790883 | 3:9,908,875 | C/A | — | likely benign |
| rs201404178 | 3:9,908,932 | T/C | — | benign |
| rs17222536 | 3:9,908,935 | A/G | — | benign |
| rs147072100 | 3:9,908,941 | T/C | — | likely benign |
| rs1132704 | 3:9,908,947 | C/T | — | likely benign |
| rs1379855911 | 3:9,908,950 | C/T | — | uncertain significance |
| rs587776968 | 3:9,908,979 | C/A | stop gained | pathogenic |
| rs111713852 | 3:9,911,575 | C/T | — | uncertain significance |
| rs201709635 | 3:9,911,653 | A/G | — | uncertain significance |
| rs1414656804 | 3:9,911,696 | G/A | — | uncertain significance |
| rs2472572894 | 3:9,911,731 | A/G | — | uncertain significance |
| rs141361690 | 3:9,911,733 | G/C | — | likely benign |
| rs764638118 | 3:9,911,740 | G/A | — | uncertain significance |
| rs138339147 | 3:9,911,799 | C/G | intron variant | — |
| rs368298060 | 3:9,911,838 | G/A | — | likely benign |
| rs145091411 | 3:9,911,858 | G/A | — | uncertain significance |
| rs745983070 | 3:9,911,874 | G/C | — | uncertain significance |
| rs2472574214 | 3:9,911,885 | A/G | — | uncertain significance |
| rs2472574894 | 3:9,911,922 | A/G | — | uncertain significance |
| rs143400572 | 3:9,911,950 | A/G | — | benign |
| rs773671821 | 3:9,912,002 | C/T | — | conflicting classifications of pathogenicity |
| rs73118319 | 3:9,912,097 | G/A | — | benign |
| rs140125102 | 3:9,912,149 | G/T | — | benign |
| rs73013406 | 3:9,918,570 | C/T | — | benign |
| rs79419480 | 3:9,918,776 | A/G | — | benign |
| rs200343387 | 3:9,918,782 | T/C | — | benign |
| rs148744468 | 3:9,918,797 | C/T | — | uncertain significance |
| rs754291958 | 3:9,918,802 | C/T | — | uncertain significance |
| rs61742367 | 3:9,918,811 | G/A | — | benign |
| rs150971509 | 3:9,918,818 | C/T | — | likely benign |
| rs956988245 | 3:9,918,821 | G/A | — | uncertain significance |
| rs988262334 | 3:9,918,830 | G/A | — | uncertain significance |
| rs760803919 | 3:9,918,860 | A/G | — | conflicting classifications of pathogenicity |
| rs456168 | 3:9,918,861 | A/C | — | benign |
| rs2082437710 | 3:9,918,869 | G/C | — | uncertain significance |
| rs56111543 | 3:9,920,041 | A/T | — | benign |
| rs17851444 | 3:9,920,138 | G/C | — | benign |
| rs62247501 | 3:9,920,247 | C/A | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.