C1RL
complement C1r subcomponent like
Summary
Predicted to enable serine-type endopeptidase activity. Predicted to be involved in zymogen activation. Located in extracellular exosome. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants38 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2539639318 | 12:7,248,997 | C/T | — | uncertain significance |
| rs559175952 | 12:7,249,020 | G/C | — | uncertain significance |
| rs78865688 | 12:7,249,144 | C/T | — | uncertain significance |
| rs1938436582 | 12:7,249,178 | C/T | — | likely benign |
| rs74323236 | 12:7,249,186 | A/G | — | likely benign |
| rs369232515 | 12:7,249,241 | C/T | — | uncertain significance |
| rs150498892 | 12:7,249,328 | C/T | — | uncertain significance |
| rs139459588 | 12:7,249,349 | G/A | — | uncertain significance |
| rs761510122 | 12:7,249,367 | C/T | — | uncertain significance |
| rs756055186 | 12:7,249,381 | G/A | — | uncertain significance |
| rs149653325 | 12:7,249,388 | C/T | — | likely benign |
| rs763277062 | 12:7,249,439 | C/T | — | uncertain significance |
| rs150866407 | 12:7,249,472 | C/T | — | uncertain significance |
| rs2539640563 | 12:7,249,500 | G/T | — | uncertain significance |
| rs148521163 | 12:7,249,520 | T/A | — | likely benign |
| rs2539640795 | 12:7,249,616 | G/T | — | uncertain significance |
| rs1938460811 | 12:7,249,624 | C/T | — | uncertain significance |
| rs746281381 | 12:7,249,639 | G/T | — | uncertain significance |
| rs760916475 | 12:7,249,642 | C/G | — | uncertain significance |
| rs368393642 | 12:7,249,658 | G/A | — | likely benign |
| rs756645343 | 12:7,249,679 | A/G | — | uncertain significance |
| rs779518523 | 12:7,249,711 | C/T | — | uncertain significance |
| rs1390835747 | 12:7,249,757 | A/G | — | uncertain significance |
| rs375532490 | 12:7,249,759 | A/T | — | uncertain significance |
| rs199780901 | 12:7,252,544 | T/C | — | uncertain significance |
| rs2539644888 | 12:7,252,565 | G/A | — | uncertain significance |
| rs2539645048 | 12:7,252,614 | A/G | — | likely benign |
| rs767611553 | 12:7,254,550 | G/A | — | uncertain significance |
| rs760175036 | 12:7,254,626 | C/A | — | uncertain significance |
| rs141143315 | 12:7,254,671 | C/T | missense variant | — |
| rs200941119 | 12:7,254,674 | C/T | — | uncertain significance |
| rs191448232 | 12:7,254,686 | G/A | splice region variant | — |
| rs776639191 | 12:7,260,864 | C/G | — | uncertain significance |
| rs201343174 | 12:7,260,930 | C/G | — | uncertain significance |
| rs200257444 | 12:7,260,997 | C/G | — | uncertain significance |
| rs1418891858 | 12:7,261,055 | C/A | — | uncertain significance |
| rs1938830311 | 12:7,261,062 | G/T | — | uncertain significance |
| rs775183495 | 12:7,261,068 | G/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.