PCDH9
protocadherin 9
Summary
This gene encodes a member of the protocadherin family, and cadherin superfamily, of transmembrane proteins containing cadherin domains. These proteins mediate cell adhesion in neural tissues in the presence of calcium. The encoded protein may be involved in signaling at neuronal synaptic junctions. Sharing a characteristic with other protocadherin genes, this gene has a notably large exon that encodes multiple cadherin domains and a transmembrane region. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Nov 2012]
Known Variants83 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2501956631 | 13:66,878,867 | T/C | — | uncertain significance |
| rs149158184 | 13:66,878,874 | G/T | — | likely benign |
| rs1400805056 | 13:66,878,948 | C/G | — | uncertain significance |
| rs369769235 | 13:66,878,990 | C/G | — | uncertain significance |
| rs2501957484 | 13:66,878,996 | T/C | — | uncertain significance |
| rs980487804 | 13:66,879,013 | G/A | — | uncertain significance |
| rs776146493 | 13:66,879,019 | A/C | — | uncertain significance |
| rs576808775 | 13:66,879,040 | G/A | — | uncertain significance |
| rs9540715 | 13:66,913,378 | C/T | — | — |
| rs9540718 | 13:66,920,915 | T/G | — | — |
| rs9540720 | 13:66,922,705 | A/T | — | — |
| rs9564313 | 13:66,923,687 | G/A | intron variant | — |
| rs9529052 | 13:66,940,097 | T/G | — | — |
| rs7988498 | 13:66,946,477 | C/T | intron variant | — |
| rs9540729 | 13:66,947,124 | A/T | intron variant | — |
| rs9529055 | 13:66,957,533 | G/A | intron variant | — |
| rs9317586 | 13:66,966,427 | C/T | — | — |
| rs17081231 | 13:66,967,622 | A/G | intron variant | — |
| rs35560901 | 13:67,054,045 | G/C | — | — |
| rs9317593 | 13:67,076,574 | A/G | intron variant | — |
| rs76876592 | 13:67,141,932 | A/G | intron variant | — |
| rs34288075 | 13:67,146,819 | T/G | — | — |
| rs4335667 | 13:67,183,676 | C/G | — | — |
| rs145894829 | 13:67,205,386 | G/A | — | likely benign |
| rs1010987405 | 13:67,205,387 | G/A | — | uncertain significance |
| rs3764117 | 13:67,205,520 | A/G | — | benign |
| rs6562474 | 13:67,332,812 | C/A | — | — |
| rs9571670 | 13:67,359,652 | C/T | intron variant | — |
| rs7319172 | 13:67,380,168 | G/A | — | — |
| rs114296142 | 13:67,383,679 | T/C | intron variant | — |
| rs9529148 | 13:67,419,495 | G/A | intron variant | — |
| rs9571684 | 13:67,470,879 | A/T | intron variant | — |
| rs760998507 | 13:67,477,676 | G/T | — | uncertain significance |
| rs149470963 | 13:67,477,723 | G/T | — | likely benign |
| rs369611135 | 13:67,513,744 | T/C | — | — |
| rs183294674 | 13:67,559,208 | C/T | intron variant | — |
| rs193005548 | 13:67,600,407 | A/G | intron variant | — |
| rs147587099 | 13:67,635,784 | T/C | intron variant | — |
| rs2875517 | 13:67,696,145 | G/A | intron variant | — |
| rs4883797 | 13:67,723,553 | A/C | — | — |
| rs1927820 | 13:67,774,646 | C/G | intron variant | — |
| rs137975513 | 13:67,780,785 | A/T | intron variant | — |
| rs117237871 | 13:67,787,996 | A/G | intron variant | — |
| rs2502330210 | 13:67,799,514 | G/T | — | uncertain significance |
| rs2089837890 | 13:67,799,727 | T/G | — | uncertain significance |
| rs2502332822 | 13:67,799,738 | C/A | — | uncertain significance |
| rs2089838700 | 13:67,799,743 | G/T | — | uncertain significance |
| rs957266665 | 13:67,799,749 | C/T | — | uncertain significance |
| rs199828489 | 13:67,799,890 | C/T | — | uncertain significance |
| rs1458629423 | 13:67,799,912 | G/C | — | uncertain significance |
| rs746510170 | 13:67,799,961 | C/T | — | uncertain significance |
| rs773628149 | 13:67,800,101 | C/T | — | uncertain significance |
| rs2502338044 | 13:67,800,109 | C/G | — | uncertain significance |
| rs555154692 | 13:67,800,199 | T/C | — | uncertain significance |
| rs777965493 | 13:67,800,207 | C/T | — | uncertain significance |
| rs41283952 | 13:67,800,419 | C/G | — | benign |
| rs775537328 | 13:67,800,431 | C/T | — | likely benign |
| rs766490363 | 13:67,800,487 | C/T | — | uncertain significance |
| rs2502343285 | 13:67,800,520 | T/G | — | uncertain significance |
| rs2502343500 | 13:67,800,550 | C/T | — | uncertain significance |
| rs114529152 | 13:67,800,580 | C/T | missense variant | — |
| rs760583171 | 13:67,800,630 | G/A | — | uncertain significance |
| rs776580060 | 13:67,800,651 | T/C | — | uncertain significance |
| rs758060018 | 13:67,800,670 | T/C | — | uncertain significance |
| rs146006048 | 13:67,800,725 | A/C | — | likely benign |
| rs775065084 | 13:67,800,766 | C/T | — | uncertain significance |
| rs2502348871 | 13:67,800,990 | C/G | — | uncertain significance |
| rs754877356 | 13:67,801,152 | A/G | — | uncertain significance |
| rs746598383 | 13:67,801,326 | T/C | — | uncertain significance |
| rs754020196 | 13:67,801,396 | T/C | — | uncertain significance |
| rs757265687 | 13:67,801,552 | G/C | — | uncertain significance |
| rs200760769 | 13:67,801,571 | G/A | — | likely benign |
| rs769888767 | 13:67,801,635 | G/T | — | uncertain significance |
| rs754599954 | 13:67,801,707 | T/A | — | uncertain significance |
| rs778185688 | 13:67,801,710 | C/T | — | uncertain significance |
| rs757729104 | 13:67,801,744 | T/C | — | uncertain significance |
| rs775437834 | 13:67,801,767 | G/A | — | uncertain significance |
| rs2502358983 | 13:67,801,971 | C/G | — | uncertain significance |
| rs2089922498 | 13:67,802,140 | G/A | — | uncertain significance |
| rs769228787 | 13:67,802,143 | A/G | — | uncertain significance |
| rs570086719 | 13:67,802,305 | T/C | — | uncertain significance |
| rs2502363003 | 13:67,802,319 | A/C | — | uncertain significance |
| rs139621323 | 13:67,802,406 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.