EXTL1
exostosin like glycosyltransferase 1
Summary
This gene is a member of the multiple exostoses (EXT) family of glycosyltransferases, which function in the chain polymerization of heparan sulfate and heparin. The encoded protein harbors alpha 1,4- N-acetylglucosaminyltransferase activity, and is involved in chain elongation of heparan sulfate and possibly heparin. [provided by RefSeq, Jul 2008]
Known Variants45 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs141728988 | 1:26,349,187 | C/T | — | uncertain significance |
| rs749852115 | 1:26,349,229 | G/A | — | uncertain significance |
| rs147369747 | 1:26,349,252 | C/T | — | uncertain significance |
| rs375235021 | 1:26,349,280 | G/A | — | uncertain significance |
| rs200312696 | 1:26,349,354 | C/G | — | uncertain significance |
| rs780350754 | 1:26,349,429 | G/C | — | uncertain significance |
| rs201819543 | 1:26,349,435 | G/A | — | uncertain significance |
| rs138854662 | 1:26,349,445 | C/A | — | uncertain significance |
| rs960273829 | 1:26,349,454 | C/T | — | uncertain significance |
| rs918682010 | 1:26,349,475 | G/A | — | likely benign |
| rs1307746236 | 1:26,349,484 | C/T | — | uncertain significance |
| rs781574807 | 1:26,349,502 | G/A | — | uncertain significance |
| rs771788460 | 1:26,349,633 | C/T | — | uncertain significance |
| rs760822796 | 1:26,349,760 | G/A | — | uncertain significance |
| rs757512284 | 1:26,349,783 | C/T | — | uncertain significance |
| rs751381492 | 1:26,349,796 | C/T | — | uncertain significance |
| rs2522598034 | 1:26,349,883 | A/G | — | uncertain significance |
| rs149608406 | 1:26,355,691 | C/T | missense variant | — |
| rs752454839 | 1:26,355,710 | A/G | — | uncertain significance |
| rs776617542 | 1:26,356,098 | G/T | — | uncertain significance |
| rs376788705 | 1:26,356,121 | C/T | — | uncertain significance |
| rs141225406 | 1:26,356,156 | G/A | stop gained | — |
| rs772857004 | 1:26,356,181 | G/A | — | uncertain significance |
| rs755049028 | 1:26,356,186 | G/C | — | uncertain significance |
| rs774950171 | 1:26,356,992 | C/A | — | uncertain significance |
| rs149977883 | 1:26,357,072 | C/A | — | uncertain significance |
| rs531836665 | 1:26,357,636 | G/T | — | uncertain significance |
| rs750223201 | 1:26,357,669 | T/C | — | uncertain significance |
| rs1173537171 | 1:26,357,964 | G/T | — | uncertain significance |
| rs371881161 | 1:26,357,977 | G/A | — | uncertain significance |
| rs1340963153 | 1:26,357,989 | G/T | — | uncertain significance |
| rs2522634538 | 1:26,358,007 | C/T | — | uncertain significance |
| rs61746687 | 1:26,358,014 | T/C | — | uncertain significance |
| rs1176191167 | 1:26,358,022 | A/T | — | uncertain significance |
| rs2522635509 | 1:26,358,050 | G/A | — | uncertain significance |
| rs140906656 | 1:26,358,933 | C/G | — | uncertain significance |
| rs748733992 | 1:26,359,783 | C/T | — | uncertain significance |
| rs2522645724 | 1:26,360,289 | A/T | — | uncertain significance |
| rs2522650703 | 1:26,361,368 | T/A | — | uncertain significance |
| rs370338893 | 1:26,361,406 | G/A | — | uncertain significance |
| rs200706264 | 1:26,361,422 | T/C | — | uncertain significance |
| rs1214926506 | 1:26,361,457 | G/T | — | uncertain significance |
| rs1349742339 | 1:26,361,704 | G/A | — | likely benign |
| rs571804522 | 1:26,361,729 | C/G | — | likely benign |
| rs898069139 | 1:26,361,774 | C/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.