PSG6
pregnancy specific beta-1-glycoprotein 6
Summary
This gene is a member of the pregnancy-specific glycoprotein (PSG) gene family. The PSG genes are a subgroup of the carcinoembryonic antigen (CEA) family of immunoglobulin-like genes, and are found in a gene cluster at 19q13.1-q13.2 telomeric to another cluster of CEA-related genes. The PSG genes are expressed by placental trophoblasts and released into the maternal circulation during pregnancy, and are thought to be essential for maintenance of normal pregnancy. The protein encoded by this gene contains the Arg-Gly-Asp tripeptide associated with cellular adhesion and recognition. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012]
Known Variants58 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs9179 | 19:43,406,432 | C/T | downstream gene variant | — |
| rs372451273 | 19:43,411,089 | T/C | — | uncertain significance |
| rs1065525 | 19:43,411,103 | A/C | — | likely benign |
| rs147272088 | 19:43,411,109 | T/A | — | likely benign |
| rs772927545 | 19:43,411,142 | T/C | — | uncertain significance |
| rs151199781 | 19:43,411,149 | C/T | — | uncertain significance |
| rs780708171 | 19:43,411,246 | G/T | — | uncertain significance |
| rs776462712 | 19:43,411,269 | G/A | — | uncertain significance |
| rs143813812 | 19:43,411,283 | C/T | — | likely benign |
| rs1972138893 | 19:43,411,730 | A/C | — | uncertain significance |
| rs146029289 | 19:43,411,763 | C/G | — | uncertain significance |
| rs768752410 | 19:43,411,824 | G/A | — | uncertain significance |
| rs141749854 | 19:43,411,847 | A/G | — | uncertain significance |
| rs1058725 | 19:43,411,850 | G/T | — | uncertain significance |
| rs201339573 | 19:43,411,865 | G/A | — | uncertain significance |
| rs574785075 | 19:43,411,875 | G/T | — | uncertain significance |
| rs1972143833 | 19:43,411,880 | C/T | — | uncertain significance |
| rs527513587 | 19:43,411,917 | G/A | — | uncertain significance |
| rs750358085 | 19:43,411,935 | T/A | — | uncertain significance |
| rs142535799 | 19:43,411,947 | C/T | — | uncertain significance |
| rs1065513 | 19:43,411,954 | C/A | — | likely benign |
| rs370661860 | 19:43,414,801 | G/T | — | uncertain significance |
| rs1065512 | 19:43,414,809 | A/G | — | uncertain significance |
| rs1424214686 | 19:43,414,812 | T/A | — | uncertain significance |
| rs747703336 | 19:43,414,819 | T/A | — | uncertain significance |
| rs770764386 | 19:43,414,831 | G/T | — | uncertain significance |
| rs147725300 | 19:43,414,833 | T/C | — | conflicting classifications of pathogenicity |
| rs768761790 | 19:43,414,927 | C/T | — | uncertain significance |
| rs142866380 | 19:43,414,945 | G/T | — | uncertain significance |
| rs768444525 | 19:43,414,965 | C/G | — | uncertain significance |
| rs186311462 | 19:43,415,010 | G/A | — | likely benign |
| rs1173083516 | 19:43,420,280 | A/T | — | uncertain significance |
| rs746297735 | 19:43,420,289 | C/A | — | uncertain significance |
| rs748893912 | 19:43,420,325 | C/G | — | uncertain significance |
| rs151320141 | 19:43,420,331 | T/C | — | uncertain significance |
| rs370900198 | 19:43,420,334 | T/C | — | uncertain significance |
| rs766513091 | 19:43,420,354 | C/A | — | uncertain significance |
| rs200239283 | 19:43,420,357 | G/C | — | uncertain significance |
| rs778261721 | 19:43,420,362 | C/G | — | uncertain significance |
| rs748009368 | 19:43,420,388 | G/C | — | uncertain significance |
| rs756566355 | 19:43,420,414 | C/T | — | uncertain significance |
| rs144161671 | 19:43,420,425 | G/T | — | likely benign |
| rs147128116 | 19:43,420,439 | T/C | — | uncertain significance |
| rs1407160969 | 19:43,420,441 | A/G | — | uncertain significance |
| rs140306428 | 19:43,420,445 | G/C | — | likely benign |
| rs142720012 | 19:43,420,448 | C/T | — | uncertain significance |
| rs73934315 | 19:43,420,449 | G/A | — | benign |
| rs3198831 | 19:43,420,451 | G/C | — | benign |
| rs140974685 | 19:43,420,486 | G/A | — | uncertain significance |
| rs140507212 | 19:43,420,517 | T/G | — | uncertain significance |
| rs761914485 | 19:43,420,544 | G/A | — | uncertain significance |
| rs2513520482 | 19:43,420,552 | A/C | — | uncertain significance |
| rs752396493 | 19:43,420,562 | C/T | — | uncertain significance |
| rs1442758464 | 19:43,420,564 | T/C | — | uncertain significance |
| rs200758573 | 19:43,420,565 | C/T | — | benign |
| rs755253453 | 19:43,420,583 | T/G | — | likely benign |
| rs775243502 | 19:43,421,895 | C/G | — | uncertain significance |
| rs146134374 | 19:43,423,436 | G/A | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.