CISD2
CDGSH iron sulfur domain 2
Summary
The protein encoded by this gene is a zinc finger protein that localizes to the endoplasmic reticulum. The encoded protein binds an iron/sulfur cluster and may be involved in calcium homeostasis. Defects in this gene are a cause of Wolfram syndrome 2. [provided by RefSeq, Mar 2011]
Known Variants54 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1553968629 | 4:103,790,210 | G/A | — | likely benign |
| rs2476207807 | 4:103,790,244 | G/A | — | uncertain significance |
| rs752651575 | 4:103,790,251 | G/C | — | uncertain significance |
| rs145312923 | 4:103,790,253 | G/A | — | conflicting classifications of pathogenicity |
| rs1347143247 | 4:103,790,260 | G/A | — | uncertain significance |
| rs1055484125 | 4:103,790,262 | C/T | — | likely benign |
| rs374512796 | 4:103,790,289 | A/C | — | likely benign |
| rs142339135 | 4:103,790,293 | C/T | — | likely benign |
| rs564095499 | 4:103,790,301 | G/C | — | likely benign |
| rs759654427 | 4:103,790,324 | C/T | — | uncertain significance |
| rs1463339439 | 4:103,790,325 | C/G | — | likely benign |
| rs765299352 | 4:103,790,333 | C/T | — | uncertain significance |
| rs1578307302 | 4:103,790,345 | G/A | — | pathogenic |
| rs201461508 | 4:103,790,349 | T/G | — | uncertain significance |
| rs1271190440 | 4:103,790,350 | C/A | — | uncertain significance |
| rs751392145 | 4:103,790,353 | C/T | — | likely benign |
| rs2476208385 | 4:103,790,356 | C/T | — | likely benign |
| rs2476208390 | 4:103,790,357 | C/T | — | likely benign |
| rs1200205884 | 4:103,790,358 | A/C | — | likely benign |
| rs1247304404 | 4:103,790,360 | C/G | — | likely benign |
| rs143443440 | 4:103,795,697 | C/G | — | likely benign |
| rs2738926 | 4:103,799,528 | T/A | — | — |
| rs223323 | 4:103,799,569 | G/T | — | — |
| rs223320 | 4:103,802,165 | A/T | downstream gene variant | — |
| rs1733845019 | 4:103,806,363 | A/G | — | likely benign |
| rs190212874 | 4:103,806,364 | C/A | — | likely benign |
| rs753403300 | 4:103,806,387 | C/T | — | uncertain significance |
| rs763904771 | 4:103,806,389 | G/A | — | likely benign |
| rs1403611993 | 4:103,806,411 | C/T | — | uncertain significance |
| rs371712100 | 4:103,806,413 | C/T | — | likely benign |
| rs780388471 | 4:103,806,439 | G/A | — | uncertain significance |
| rs1733852380 | 4:103,806,473 | T/C | — | likely benign |
| rs766086013 | 4:103,806,495 | C/A | — | uncertain significance |
| rs2110400421 | 4:103,806,496 | A/T | — | uncertain significance |
| rs2476239375 | 4:103,806,497 | A/G | — | likely benign |
| rs2476239390 | 4:103,806,504 | A/T | — | uncertain significance |
| rs868634687 | 4:103,806,508 | C/T | — | uncertain significance |
| rs375529885 | 4:103,806,509 | G/A | — | likely benign |
| rs905836999 | 4:103,806,533 | T/A | — | likely benign |
| rs151223492 | 4:103,806,563 | T/C | — | likely benign |
| rs2110400488 | 4:103,806,567 | A/G | — | uncertain significance |
| rs750923436 | 4:103,806,569 | G/A | — | likely benign |
| rs1224310922 | 4:103,806,603 | A/T | — | likely benign |
| rs780294206 | 4:103,806,604 | C/T | — | likely benign |
| rs754165955 | 4:103,806,605 | G/A | — | likely benign |
| rs2476240105 | 4:103,806,606 | T/C | — | likely benign |
| rs139460212 | 4:103,806,607 | G/A | — | benign |
| rs933913005 | 4:103,808,478 | T/C | — | likely benign |
| rs1202424683 | 4:103,808,504 | G/A | — | uncertain significance |
| rs199992363 | 4:103,808,515 | T/C | — | likely benign |
| rs3974627 | 4:103,808,572 | G/A | — | likely benign |
| rs1405055952 | 4:103,808,575 | G/A | — | likely benign |
| rs1194858342 | 4:103,808,582 | G/A | — | uncertain significance |
| rs878941586 | 4:103,808,666 | C/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.