HEG1
heart development protein with EGF like domains 1
Summary
Predicted to enable calcium ion binding activity. Involved in several processes, including negative regulation of Rho protein signal transduction; negative regulation of Rho-dependent protein serine/threonine kinase activity; and negative regulation of membrane permeability. Located in cell-cell junction. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants86 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs546708760 | 3:124,689,539 | G/A | — | uncertain significance |
| rs923094201 | 3:124,689,545 | T/C | — | uncertain significance |
| rs186255239 | 3:124,689,598 | C/T | — | likely benign |
| rs775877355 | 3:124,689,609 | C/T | — | uncertain significance |
| rs764112615 | 3:124,689,614 | C/T | — | uncertain significance |
| rs767415348 | 3:124,689,627 | G/T | — | uncertain significance |
| rs770547898 | 3:124,689,644 | G/C | — | uncertain significance |
| rs200777896 | 3:124,692,579 | T/C | — | uncertain significance |
| rs200434486 | 3:124,692,663 | C/T | — | uncertain significance |
| rs2270778 | 3:124,692,689 | C/A | synonymous variant | — |
| rs1159818379 | 3:124,692,720 | A/G | — | uncertain significance |
| rs2472459986 | 3:124,692,721 | T/C | — | uncertain significance |
| rs201910585 | 3:124,696,725 | C/T | — | uncertain significance |
| rs2472463561 | 3:124,696,728 | T/C | — | uncertain significance |
| rs9836224 | 3:124,697,992 | C/T | intron variant | — |
| rs11713566 | 3:124,699,908 | C/A | — | — |
| rs6763811 | 3:124,702,307 | C/T | intron variant | — |
| rs61546496 | 3:124,706,862 | A/T | — | — |
| rs376649315 | 3:124,716,574 | G/A | — | uncertain significance |
| rs576650792 | 3:124,716,649 | C/T | — | uncertain significance |
| rs181022733 | 3:124,716,667 | G/A | — | uncertain significance |
| rs376537299 | 3:124,720,708 | G/A | — | uncertain significance |
| rs1937006073 | 3:124,720,775 | C/G | — | uncertain significance |
| rs761662769 | 3:124,720,797 | G/A | — | uncertain significance |
| rs189139999 | 3:124,724,173 | A/C | — | uncertain significance |
| rs6438868 | 3:124,728,472 | C/G | intron variant | — |
| rs779883834 | 3:124,728,575 | T/G | — | uncertain significance |
| rs534204602 | 3:124,728,650 | G/A | — | likely benign |
| rs1419406129 | 3:124,728,668 | T/C | — | uncertain significance |
| rs553219844 | 3:124,731,529 | G/C | — | uncertain significance |
| rs147885895 | 3:124,731,553 | G/A | — | benign |
| rs565291346 | 3:124,731,581 | G/A | — | uncertain significance |
| rs200456004 | 3:124,731,628 | C/A | — | uncertain significance |
| rs2107700572 | 3:124,731,739 | G/A | — | uncertain significance |
| rs377517994 | 3:124,731,747 | T/G | — | likely benign |
| rs201438380 | 3:124,731,812 | T/C | — | uncertain significance |
| rs760475850 | 3:124,731,878 | T/A | — | uncertain significance |
| rs2472501580 | 3:124,731,901 | G/A | — | uncertain significance |
| rs1013330746 | 3:124,731,918 | T/A | — | uncertain significance |
| rs545471364 | 3:124,731,923 | T/C | — | uncertain significance |
| rs201606397 | 3:124,731,991 | G/A | — | uncertain significance |
| rs777879629 | 3:124,732,010 | A/T | — | uncertain significance |
| rs186767264 | 3:124,732,292 | G/C | — | uncertain significance |
| rs1360160080 | 3:124,732,318 | A/G | — | uncertain significance |
| rs374179814 | 3:124,732,339 | G/A | — | uncertain significance |
| rs113838848 | 3:124,732,426 | G/A | — | benign |
| rs749616121 | 3:124,732,543 | A/G | — | uncertain significance |
| rs368037835 | 3:124,732,567 | G/A | — | uncertain significance |
| rs2472502843 | 3:124,732,681 | A/C | — | uncertain significance |
| rs772400849 | 3:124,732,726 | C/T | — | uncertain significance |
| rs114681156 | 3:124,732,739 | T/A | — | benign |
| rs762864956 | 3:124,732,748 | A/G | — | uncertain significance |
| rs763899154 | 3:124,732,751 | A/C | — | uncertain significance |
| rs573602551 | 3:124,732,775 | C/T | — | uncertain significance |
| rs1323337474 | 3:124,732,784 | T/A | — | uncertain significance |
| rs371922838 | 3:124,732,832 | C/A | — | uncertain significance |
| rs1451100539 | 3:124,738,111 | C/T | — | uncertain significance |
| rs568268614 | 3:124,738,120 | C/T | — | uncertain significance |
| rs369260326 | 3:124,738,121 | G/A | — | uncertain significance |
| rs200937422 | 3:124,738,283 | C/T | — | uncertain significance |
| rs761094797 | 3:124,738,355 | C/T | — | uncertain significance |
| rs372568685 | 3:124,739,642 | A/T | — | uncertain significance |
| rs757938515 | 3:124,739,689 | G/C | — | uncertain significance |
| rs376280292 | 3:124,739,926 | G/A | — | uncertain significance |
| rs747175382 | 3:124,739,950 | T/C | — | uncertain significance |
| rs749934639 | 3:124,746,081 | G/A | — | uncertain significance |
| rs752055512 | 3:124,746,144 | G/A | — | likely benign |
| rs61750908 | 3:124,746,146 | G/A | — | likely benign |
| rs2333041 | 3:124,746,182 | C/T | — | benign |
| rs202204864 | 3:124,746,195 | G/A | — | uncertain significance |
| rs529762453 | 3:124,746,251 | C/A | — | uncertain significance |
| rs773502661 | 3:124,748,042 | A/T | — | uncertain significance |
| rs1937459897 | 3:124,748,053 | T/C | — | uncertain significance |
| rs199818051 | 3:124,748,159 | C/T | — | likely benign |
| rs185196596 | 3:124,748,236 | G/A | — | uncertain significance |
| rs895774702 | 3:124,774,439 | G/T | — | uncertain significance |
| rs747010425 | 3:124,774,467 | C/T | — | uncertain significance |
| rs1177854947 | 3:124,774,491 | A/G | — | likely benign |
| rs1653214571 | 3:124,774,506 | T/G | — | uncertain significance |
| rs976474220 | 3:124,774,518 | G/A | — | uncertain significance |
| rs1937922162 | 3:124,774,530 | G/A | — | uncertain significance |
| rs1279141595 | 3:124,774,548 | C/T | — | uncertain significance |
| rs1392934241 | 3:124,774,584 | C/T | — | uncertain significance |
| rs1014301796 | 3:124,774,613 | G/A | — | uncertain significance |
| rs1937926642 | 3:124,774,647 | T/G | — | uncertain significance |
| rs1231589724 | 3:124,774,659 | C/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.