RPL10
ribosomal protein L10
Summary
This gene encodes a ribosomal protein that is a component of the 60S ribosome subunit. The related protein in chicken can bind to c-Jun and can repress c-Jun-mediated transcriptional activation. Some studies have detected an association between variation in this gene and autism spectrum disorders, though others do not detect this relationship. There are multiple pseudogenes of this gene dispersed throughout the genome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
Known Variants49 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1557184854 | X:153,626,737 | T/G | — | uncertain significance |
| rs915942 | X:153,626,738 | G/A | splice region variant | benign |
| rs1345850553 | X:153,626,857 | C/T | — | uncertain significance |
| rs1557184925 | X:153,626,868 | G/A | — | likely pathogenic |
| rs2070820 | X:153,626,892 | T/A | — | benign |
| rs11593 | X:153,627,145 | A/C | regulatory region variant | — |
| rs2067975238 | X:153,627,666 | C/T | — | uncertain significance |
| rs1369034406 | X:153,627,669 | T/C | — | likely benign |
| rs2067975594 | X:153,627,671 | C/G | — | uncertain significance |
| rs781792350 | X:153,627,697 | C/A | — | likely benign |
| rs2148137655 | X:153,627,866 | G/A | — | uncertain significance |
| rs2148137780 | X:153,627,942 | C/T | — | uncertain significance |
| rs2148138570 | X:153,628,134 | C/T | — | uncertain significance |
| rs1286783643 | X:153,628,139 | C/T | — | uncertain significance |
| rs1131692042 | X:153,628,144 | C/T | — | pathogenic |
| rs2522815113 | X:153,628,167 | G/A | — | uncertain significance |
| rs2148138707 | X:153,628,171 | A/C | — | uncertain significance |
| rs1327668717 | X:153,628,177 | A/T | — | uncertain significance |
| rs1131692040 | X:153,628,185 | A/G | — | pathogenic |
| rs782088842 | X:153,628,189 | G/C | — | uncertain significance |
| rs1557185465 | X:153,628,204 | G/A | — | uncertain significance |
| rs1367828684 | X:153,628,205 | C/T | — | likely benign |
| rs1430410358 | X:153,628,217 | G/A | — | likely benign |
| rs138325578 | X:153,628,244 | C/T | — | conflicting classifications of pathogenicity |
| rs2522815696 | X:153,628,288 | C/G | — | uncertain significance |
| rs781989682 | X:153,628,798 | A/G | — | likely benign |
| rs2068007021 | X:153,628,822 | G/A | — | uncertain significance |
| rs2148140745 | X:153,628,942 | A/C | — | uncertain significance |
| rs2068008676 | X:153,628,954 | C/G | — | uncertain significance |
| rs1131692041 | X:153,628,956 | G/A | — | pathogenic |
| rs2148140779 | X:153,628,957 | G/A | — | likely pathogenic |
| rs372041364 | X:153,628,959 | C/T | — | uncertain significance |
| rs782342444 | X:153,628,971 | T/A | — | uncertain significance |
| rs782570397 | X:153,629,085 | G/A | — | uncertain significance |
| rs2522821838 | X:153,629,111 | A/C | — | uncertain significance |
| rs1019534975 | X:153,629,115 | C/T | — | likely pathogenic |
| rs2068013450 | X:153,629,128 | A/G | — | uncertain significance |
| rs4909 | X:153,629,155 | A/G | — | benign |
| rs387906727 | X:153,629,166 | C/A | — | risk factor |
| rs979369776 | X:153,629,178 | C/T | — | benign |
| rs781973415 | X:153,629,179 | G/A | — | benign |
| rs143424344 | X:153,629,180 | G/A | — | likely benign |
| rs371964689 | X:153,629,183 | C/T | — | benign |
| rs782521991 | X:153,629,189 | C/G | — | uncertain significance |
| rs1281335081 | X:153,629,196 | G/A | — | likely benign |
| rs369963498 | X:153,629,197 | G/A | — | uncertain significance |
| rs1312956120 | X:153,629,273 | C/T | — | uncertain significance |
| rs782282641 | X:153,629,282 | C/G | — | uncertain significance |
| rs782758857 | X:153,629,358 | C/T | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.