PSG7
pregnancy specific beta-1-glycoprotein 7
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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
Known Variants66 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs370280963 | 19:43,429,931 | C/T | — | uncertain significance |
| rs184492103 | 19:43,429,963 | C/T | — | uncertain significance |
| rs573042386 | 19:43,429,978 | C/T | — | uncertain significance |
| rs147949753 | 19:43,429,982 | C/G | — | likely benign |
| rs200831633 | 19:43,430,005 | T/C | — | uncertain significance |
| rs374874463 | 19:43,430,041 | C/T | — | uncertain significance |
| rs746139982 | 19:43,430,050 | T/C | — | uncertain significance |
| rs769645408 | 19:43,430,070 | C/G | — | uncertain significance |
| rs751735611 | 19:43,430,081 | G/C | — | likely benign |
| rs1189533695 | 19:43,430,092 | T/C | — | uncertain significance |
| rs1423068289 | 19:43,430,098 | T/C | — | uncertain significance |
| rs200190947 | 19:43,430,101 | G/A | — | uncertain significance |
| rs370166436 | 19:43,430,108 | A/G | — | uncertain significance |
| rs373877960 | 19:43,430,113 | A/C | — | uncertain significance |
| rs189458895 | 19:43,430,117 | A/C | — | uncertain significance |
| rs368091450 | 19:43,430,120 | G/A | — | uncertain significance |
| rs372334153 | 19:43,430,121 | G/C | — | uncertain significance |
| rs765266278 | 19:43,430,153 | G/A | — | uncertain significance |
| rs1205049115 | 19:43,430,165 | G/A | — | uncertain significance |
| rs777761847 | 19:43,430,174 | G/A | — | uncertain significance |
| rs374985874 | 19:43,430,604 | G/T | — | uncertain significance |
| rs368339915 | 19:43,430,610 | G/C | — | uncertain significance |
| rs576270742 | 19:43,430,614 | C/A | — | uncertain significance |
| rs200486902 | 19:43,430,620 | G/C | — | uncertain significance |
| rs376480204 | 19:43,430,641 | G/A | — | likely benign |
| rs574769913 | 19:43,430,653 | G/C | — | likely benign |
| rs2513532267 | 19:43,430,691 | A/G | — | uncertain significance |
| rs369439425 | 19:43,430,744 | C/G | — | uncertain significance |
| rs573069342 | 19:43,430,760 | C/G | — | uncertain significance |
| rs373637874 | 19:43,430,805 | G/A | — | likely benign |
| rs768499882 | 19:43,430,827 | G/A | — | uncertain significance |
| rs371245756 | 19:43,430,860 | G/A | — | uncertain significance |
| rs761031836 | 19:43,433,636 | C/G | — | uncertain significance |
| rs370090831 | 19:43,433,671 | G/A | — | uncertain significance |
| rs374257967 | 19:43,433,674 | T/C | — | uncertain significance |
| rs146569565 | 19:43,433,676 | G/C | missense variant | — |
| rs746719103 | 19:43,433,694 | G/A | — | likely benign |
| rs770350520 | 19:43,433,698 | A/C | — | uncertain significance |
| rs757083003 | 19:43,433,719 | A/G | — | uncertain significance |
| rs1972970694 | 19:43,433,725 | A/C | — | uncertain significance |
| rs373212271 | 19:43,433,744 | G/A | — | uncertain significance |
| rs368973716 | 19:43,433,776 | G/T | — | uncertain significance |
| rs200906085 | 19:43,433,779 | T/G | — | uncertain significance |
| rs937461593 | 19:43,433,791 | G/T | — | uncertain significance |
| rs1429625346 | 19:43,433,806 | A/C | — | uncertain significance |
| rs746431878 | 19:43,433,810 | C/T | — | uncertain significance |
| rs201088528 | 19:43,433,862 | G/C | — | likely benign |
| rs774167447 | 19:43,433,870 | C/G | — | uncertain significance |
| rs185488999 | 19:43,433,879 | G/A | — | likely benign |
| rs559193480 | 19:43,439,386 | C/T | — | — |
| rs1163992028 | 19:43,439,559 | A/G | — | uncertain significance |
| rs200405164 | 19:43,439,564 | G/C | — | uncertain significance |
| rs1368206323 | 19:43,439,669 | G/A | — | uncertain significance |
| rs782201530 | 19:43,439,700 | T/C | — | uncertain significance |
| rs201421586 | 19:43,439,787 | A/G | — | uncertain significance |
| rs145889914 | 19:43,439,809 | G/A | — | likely benign |
| rs370231373 | 19:43,439,844 | C/T | — | uncertain significance |
| rs782606896 | 19:43,439,902 | C/G | — | uncertain significance |
| rs530464449 | 19:43,441,167 | G/T | — | uncertain significance |
| rs766315659 | 19:43,441,170 | A/T | — | uncertain significance |
| rs568904102 | 19:43,441,171 | G/C | — | uncertain significance |
| rs200787873 | 19:43,441,194 | T/C | — | uncertain significance |
| rs150067430 | 19:43,441,209 | G/A | — | uncertain significance |
| rs377017585 | 19:43,441,219 | G/C | — | uncertain significance |
| rs138049621 | 19:43,442,675 | A/G | upstream gene variant | — |
| rs555116185 | 19:43,443,153 | A/C | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.