FBN1
fibrillin 1
Summary
This gene encodes a member of the fibrillin family of proteins. The encoded preproprotein is proteolytically processed to generate two proteins including the extracellular matrix component fibrillin-1 and the protein hormone asprosin. Fibrillin-1 is an extracellular matrix glycoprotein that serves as a structural component of calcium-binding microfibrils. These microfibrils provide force-bearing structural support in elastic and nonelastic connective tissue throughout the body. Asprosin, secreted by white adipose tissue, has been shown to regulate glucose homeostasis. Mutations in this gene are associated with Marfan syndrome and the related MASS phenotype, as well as ectopia lentis syndrome, Weill-Marchesani syndrome, Shprintzen-Goldberg syndrome and neonatal progeroid syndrome. [provided by RefSeq, Apr 2016]
Known Variants5,231 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs142196699 | 15:48,700,513 | A/T | — | likely benign |
| rs886051219 | 15:48,700,549 | A/G | — | uncertain significance |
| rs886051220 | 15:48,700,593 | C/A | — | uncertain significance |
| rs752936528 | 15:48,700,595 | A/G | — | uncertain significance |
| rs761025257 | 15:48,700,609 | G/A | — | uncertain significance |
| rs886051221 | 15:48,700,631 | C/T | — | uncertain significance |
| rs886051222 | 15:48,700,654 | G/T | — | uncertain significance |
| rs75372203 | 15:48,700,663 | T/C | — | likely benign |
| rs886051223 | 15:48,700,744 | C/A | — | uncertain significance |
| rs886051224 | 15:48,700,766 | G/T | — | uncertain significance |
| rs377530465 | 15:48,700,789 | C/A | — | conflicting classifications of pathogenicity |
| rs184719603 | 15:48,700,792 | C/T | — | conflicting classifications of pathogenicity |
| rs144404153 | 15:48,700,827 | G/C | — | likely benign |
| rs886051225 | 15:48,700,927 | G/T | — | uncertain significance |
| rs886051226 | 15:48,700,966 | T/C | — | uncertain significance |
| rs11070641 | 15:48,701,029 | C/T | — | benign |
| rs116443051 | 15:48,701,034 | T/C | — | likely benign |
| rs886051227 | 15:48,701,073 | A/T | — | uncertain significance |
| rs575922741 | 15:48,701,096 | C/T | — | conflicting classifications of pathogenicity |
| rs886051228 | 15:48,701,109 | C/A | — | uncertain significance |
| rs372254135 | 15:48,701,142 | C/T | — | conflicting classifications of pathogenicity |
| rs561911965 | 15:48,701,143 | G/A | — | uncertain significance |
| rs73390272 | 15:48,701,147 | A/G | — | benign |
| rs544842106 | 15:48,701,150 | A/G | — | uncertain significance |
| rs558488257 | 15:48,701,163 | T/C | — | conflicting classifications of pathogenicity |
| rs56194244 | 15:48,701,198 | A/G | — | likely benign |
| rs1054860347 | 15:48,701,206 | G/A | — | uncertain significance |
| rs12050562 | 15:48,701,228 | C/T | — | benign |
| rs534577080 | 15:48,701,238 | A/G | — | conflicting classifications of pathogenicity |
| rs886051229 | 15:48,701,244 | C/A | — | uncertain significance |
| rs886051230 | 15:48,701,454 | T/C | — | uncertain significance |
| rs557301792 | 15:48,701,467 | G/A | — | conflicting classifications of pathogenicity |
| rs770825180 | 15:48,701,481 | G/T | — | uncertain significance |
| rs886051231 | 15:48,701,515 | C/T | — | uncertain significance |
| rs886051232 | 15:48,701,552 | G/T | — | uncertain significance |
| rs374297351 | 15:48,701,568 | A/T | — | conflicting classifications of pathogenicity |
| rs17352989 | 15:48,701,607 | C/T | — | conflicting classifications of pathogenicity |
| rs4775760 | 15:48,701,612 | C/A | — | benign |
| rs78442438 | 15:48,701,625 | C/A | — | benign |
| rs533502309 | 15:48,701,703 | G/A | — | conflicting classifications of pathogenicity |
| rs886051233 | 15:48,701,710 | G/T | — | uncertain significance |
| rs549498511 | 15:48,701,750 | C/T | — | likely benign |
| rs750902806 | 15:48,701,755 | T/A | — | uncertain significance |
| rs886051234 | 15:48,701,789 | C/G | — | uncertain significance |
| rs886051235 | 15:48,701,791 | G/A | — | uncertain significance |
| rs1049315076 | 15:48,701,812 | T/G | — | uncertain significance |
| rs77212138 | 15:48,701,819 | T/C | — | likely benign |
| rs766719764 | 15:48,701,846 | G/A | — | conflicting classifications of pathogenicity |
| rs569152308 | 15:48,701,862 | A/G | — | conflicting classifications of pathogenicity |
| rs143446014 | 15:48,701,889 | G/C | — | conflicting classifications of pathogenicity |
| rs566419089 | 15:48,701,935 | T/C | — | conflicting classifications of pathogenicity |
| rs1456413075 | 15:48,701,938 | T/C | — | uncertain significance |
| rs181099623 | 15:48,701,942 | G/A | — | conflicting classifications of pathogenicity |
| rs372333234 | 15:48,701,959 | A/G | — | likely benign |
| rs574181586 | 15:48,701,986 | A/C | — | uncertain significance |
| rs2042846511 | 15:48,702,065 | G/A | — | uncertain significance |
| rs3803350 | 15:48,702,103 | A/G | — | benign |
| rs886051236 | 15:48,702,180 | C/A | — | uncertain significance |
| rs886051237 | 15:48,702,200 | G/A | — | uncertain significance |
| rs999275120 | 15:48,702,219 | C/T | — | uncertain significance |
| rs56024388 | 15:48,702,220 | G/A | — | conflicting classifications of pathogenicity |
| rs749224599 | 15:48,702,239 | C/A | — | uncertain significance |
| rs886051238 | 15:48,702,249 | C/A | — | uncertain significance |
| rs189749406 | 15:48,702,320 | C/A | — | likely benign |
| rs1022238055 | 15:48,702,342 | G/A | — | uncertain significance |
| rs113200355 | 15:48,702,408 | G/A | — | conflicting classifications of pathogenicity |
| rs55717426 | 15:48,702,423 | C/T | — | conflicting classifications of pathogenicity |
| rs13598 | 15:48,702,457 | C/A | — | benign |
| rs886051239 | 15:48,702,463 | T/G | — | uncertain significance |
| rs886051240 | 15:48,702,781 | C/A | — | uncertain significance |
| rs2042852375 | 15:48,702,788 | G/T | — | uncertain significance |
| rs537909430 | 15:48,702,862 | A/G | — | uncertain significance |
| rs1042078 | 15:48,702,873 | G/A | — | benign |
| rs894774727 | 15:48,702,876 | C/T | — | uncertain significance |
| rs1011876253 | 15:48,702,887 | A/G | — | uncertain significance |
| rs886051241 | 15:48,702,901 | G/A | — | uncertain significance |
| rs886051242 | 15:48,702,919 | C/G | — | uncertain significance |
| rs886051243 | 15:48,702,933 | G/A | — | uncertain significance |
| rs539383558 | 15:48,702,934 | T/A | — | uncertain significance |
| rs1407193739 | 15:48,702,935 | C/T | — | uncertain significance |
| rs1597506366 | 15:48,702,952 | A/G | — | uncertain significance |
| rs16960899 | 15:48,702,964 | A/C | — | likely benign |
| rs562749473 | 15:48,703,080 | T/C | — | uncertain significance |
| rs363849 | 15:48,703,130 | T/C | — | benign |
| rs144710695 | 15:48,703,144 | T/A | — | conflicting classifications of pathogenicity |
| rs374499193 | 15:48,703,187 | T/C | — | likely benign |
| rs2042856175 | 15:48,703,195 | G/A | — | uncertain significance |
| rs363848 | 15:48,703,197 | A/G | — | uncertain significance |
| rs1555393485 | 15:48,703,200 | A/T | — | uncertain significance |
| rs1365239366 | 15:48,703,201 | C/T | — | conflicting classifications of pathogenicity |
| rs2141209442 | 15:48,703,202 | C/T | — | likely benign |
| rs397515865 | 15:48,703,203 | T/G | missense variant | pathogenic |
| rs794728288 | 15:48,703,204 | G/A | — | pathogenic |
| rs1566888537 | 15:48,703,205 | G/T | — | likely benign |
| rs1597506544 | 15:48,703,206 | A/T | — | conflicting classifications of pathogenicity |
| rs2042856403 | 15:48,703,208 | T/G | — | uncertain significance |
| rs775732785 | 15:48,703,210 | T/C | — | uncertain significance |
| rs1281410164 | 15:48,703,211 | C/T | — | uncertain significance |
| rs1060501028 | 15:48,703,212 | A/G | — | likely pathogenic |
| rs2042856515 | 15:48,703,217 | C/T | — | likely benign |
Showing 100 of 5,231 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.