BST1
bone marrow stromal cell antigen 1
Summary
Bone marrow stromal cell antigen-1 is a stromal cell line-derived glycosylphosphatidylinositol-anchored molecule that facilitates pre-B-cell growth. The deduced amino acid sequence exhibits 33% similarity with CD38. BST1 expression is enhanced in bone marrow stromal cell lines derived from patients with rheumatoid arthritis. The polyclonal B-cell abnormalities in rheumatoid arthritis may be, at least in part, attributed to BST1 overexpression in the stromal cell population. [provided by RefSeq, Jul 2008]
Known Variants49 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs113618320 | 4:15,703,258 | G/T | upstream gene variant | — |
| rs752630803 | 4:15,704,793 | C/G | — | uncertain significance |
| rs977615317 | 4:15,704,825 | C/T | — | uncertain significance |
| rs775887512 | 4:15,704,859 | G/C | — | likely benign |
| rs375955431 | 4:15,704,910 | T/C | — | uncertain significance |
| rs184852747 | 4:15,704,924 | G/A | — | uncertain significance |
| rs2476310545 | 4:15,704,951 | C/G | — | uncertain significance |
| rs55735476 | 4:15,706,920 | C/T | intron variant | — |
| rs567575083 | 4:15,707,209 | C/T | — | uncertain significance |
| rs6840615 | 4:15,707,250 | A/G | — | benign |
| rs1284759757 | 4:15,707,258 | A/C | — | uncertain significance |
| rs141145843 | 4:15,709,176 | G/A | — | uncertain significance |
| rs78449217 | 4:15,709,188 | C/T | — | benign |
| rs777458820 | 4:15,709,189 | G/A | — | uncertain significance |
| rs527823254 | 4:15,709,191 | C/T | — | uncertain significance |
| rs141815955 | 4:15,709,208 | C/G | — | uncertain significance |
| rs75054170 | 4:15,709,253 | A/G | — | benign |
| rs1439057705 | 4:15,709,258 | A/G | — | uncertain significance |
| rs778915780 | 4:15,713,477 | C/G | — | likely benign |
| rs778110378 | 4:15,713,498 | A/G | — | uncertain significance |
| rs73224659 | 4:15,714,189 | C/A | intron variant | — |
| rs73224660 | 4:15,714,762 | G/A | intron variant | — |
| rs112894716 | 4:15,714,856 | G/T | — | — |
| rs73224662 | 4:15,716,089 | A/T | — | — |
| rs141978729 | 4:15,716,923 | T/C | — | uncertain significance |
| rs2476363463 | 4:15,716,926 | G/C | — | uncertain significance |
| rs1406808898 | 4:15,716,963 | C/T | — | uncertain significance |
| rs113632818 | 4:15,717,380 | G/A | — | uncertain significance |
| rs374610644 | 4:15,717,381 | A/G | — | likely benign |
| rs769566103 | 4:15,717,412 | G/A | — | likely benign |
| rs1038497125 | 4:15,717,415 | C/T | — | uncertain significance |
| rs34163939 | 4:15,720,540 | G/A | — | benign |
| rs370984671 | 4:15,724,503 | T/G | — | uncertain significance |
| rs11931532 | 4:15,725,766 | T/C | intron variant | — |
| rs12502586 | 4:15,726,564 | G/A | intron variant | — |
| rs6845597 | 4:15,727,568 | G/T | intron variant | — |
| rs73123615 | 4:15,728,176 | G/C | — | — |
| rs12645693 | 4:15,729,534 | G/A | downstream gene variant | — |
| rs12644354 | 4:15,730,151 | T/C | downstream gene variant | — |
| rs4389574 | 4:15,730,398 | A/G | downstream gene variant | — |
| rs4321629 | 4:15,732,380 | C/T | downstream gene variant | — |
| rs374457002 | 4:15,733,380 | A/C | — | uncertain significance |
| rs11724635 | 4:15,737,101 | C/G | — | — |
| rs4698412 | 4:15,737,348 | G/A | downstream gene variant | — |
| rs28404156 | 4:15,737,732 | G/A | downstream gene variant | — |
| rs4538475 | 4:15,737,937 | A/T | — | — |
| rs144539516 | 4:15,739,419 | G/A | stop gained | — |
| rs539760915 | 4:15,747,811 | G/T | — | — |
| rs141018040 | 4:15,758,177 | G/A | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.