LILRA1
leukocyte immunoglobulin like receptor A1
Summary
This gene encodes an activating member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein is predominantly expressed in B cells, interacts with major histocompatibility complex class I ligands, and contributes to the regulation of immune responses. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]
Known Variants45 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs28635090 | 19:55,105,666 | G/T | downstream gene variant | — |
| rs746936814 | 19:55,105,737 | T/G | — | uncertain significance |
| rs749270821 | 19:55,105,918 | G/A | — | uncertain significance |
| rs747534144 | 19:55,105,927 | C/T | — | uncertain significance |
| rs893444156 | 19:55,106,229 | A/G | — | uncertain significance |
| rs879654906 | 19:55,106,283 | A/G | — | uncertain significance |
| rs1444110384 | 19:55,106,309 | C/T | — | likely benign |
| rs148109850 | 19:55,106,366 | C/T | — | uncertain significance |
| rs2514217452 | 19:55,106,397 | C/T | — | uncertain significance |
| rs36056143 | 19:55,106,590 | A/C | synonymous variant | — |
| rs370524319 | 19:55,106,594 | C/A | — | uncertain significance |
| rs1288597511 | 19:55,106,627 | G/A | — | uncertain significance |
| rs1600263385 | 19:55,106,721 | C/T | — | uncertain significance |
| rs557903710 | 19:55,106,726 | A/G | — | uncertain significance |
| rs754964513 | 19:55,106,736 | G/T | — | uncertain significance |
| rs1202568419 | 19:55,106,816 | T/C | — | uncertain significance |
| rs150400481 | 19:55,106,822 | C/T | — | likely benign |
| rs142345092 | 19:55,107,113 | A/G | — | likely benign |
| rs773745694 | 19:55,107,191 | T/C | — | uncertain significance |
| rs35534776 | 19:55,107,308 | G/A | missense variant | — |
| rs757520653 | 19:55,107,329 | G/C | — | uncertain significance |
| rs148585296 | 19:55,107,330 | A/T | — | uncertain significance |
| rs201805020 | 19:55,107,335 | C/A | — | likely benign |
| rs772814779 | 19:55,107,337 | G/T | — | uncertain significance |
| rs756272565 | 19:55,107,365 | C/T | — | uncertain significance |
| rs755503489 | 19:55,107,368 | C/G | — | uncertain significance |
| rs745517337 | 19:55,107,378 | C/A | — | uncertain significance |
| rs755680562 | 19:55,107,662 | C/T | — | uncertain significance |
| rs771954481 | 19:55,107,681 | C/G | — | uncertain significance |
| rs540020795 | 19:55,107,686 | C/T | — | uncertain significance |
| rs1277042940 | 19:55,107,702 | T/C | — | uncertain significance |
| rs753339975 | 19:55,107,744 | G/C | — | uncertain significance |
| rs368541946 | 19:55,107,747 | C/T | — | uncertain significance |
| rs147738806 | 19:55,107,819 | A/G | — | uncertain significance |
| rs147887088 | 19:55,107,870 | C/T | — | uncertain significance |
| rs2514227871 | 19:55,107,878 | T/C | — | uncertain significance |
| rs151065493 | 19:55,107,890 | G/A | — | uncertain significance |
| rs140811175 | 19:55,107,897 | T/G | — | likely benign |
| rs1568543085 | 19:55,107,909 | C/T | — | uncertain significance |
| rs139695879 | 19:55,111,477 | C/T | intron variant | — |
| rs201285007 | 19:55,112,203 | G/A | — | uncertain significance |
| rs375423960 | 19:55,112,245 | T/C | — | uncertain significance |
| rs45461791 | 19:55,112,396 | C/T | intron variant | — |
| rs111744096 | 19:55,113,806 | T/C | downstream gene variant | — |
| rs527517031 | 19:55,113,982 | C/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.