GALNT17
polypeptide N-acetylgalactosaminyltransferase 17
Summary
This gene encodes an N-acetylgalactosaminyltransferase. This gene is located centromeric to the common deleted region in Williams-Beuren syndrome (WBS), a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. This protein may play a role in membrane trafficking. [provided by RefSeq, Jan 2013]
Known Variants34 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs144319965 | 7:70,597,826 | T/G | — | uncertain significance |
| rs768969882 | 7:70,597,879 | A/G | — | uncertain significance |
| rs139969494 | 7:70,597,970 | A/G | — | uncertain significance |
| rs113763611 | 7:70,615,246 | A/G | intron variant | — |
| rs3923569 | 7:70,768,717 | T/C | — | — |
| rs986523227 | 7:70,800,548 | C/T | — | uncertain significance |
| rs371173470 | 7:70,800,566 | G/A | — | uncertain significance |
| rs145721199 | 7:70,800,578 | G/A | — | uncertain significance |
| rs140476927 | 7:70,800,596 | C/T | — | uncertain significance |
| rs912697541 | 7:70,800,695 | C/G | — | uncertain significance |
| rs2484439307 | 7:70,853,295 | C/T | — | uncertain significance |
| rs145445110 | 7:70,853,324 | G/A | — | uncertain significance |
| rs1342377154 | 7:70,853,381 | G/A | — | uncertain significance |
| rs377108579 | 7:70,853,396 | G/A | — | benign |
| rs776909727 | 7:70,880,919 | C/T | — | uncertain significance |
| rs1212228242 | 7:70,880,922 | G/A | — | uncertain significance |
| rs765586512 | 7:70,880,934 | G/A | — | uncertain significance |
| rs144185040 | 7:70,880,967 | C/T | — | uncertain significance |
| rs150157389 | 7:70,880,998 | C/G | — | uncertain significance |
| rs974898586 | 7:70,885,914 | G/A | — | uncertain significance |
| rs2484522038 | 7:70,885,949 | T/G | — | uncertain significance |
| rs1786653304 | 7:70,885,970 | G/A | — | uncertain significance |
| rs139549051 | 7:70,886,048 | C/G | — | uncertain significance |
| rs4719147 | 7:71,016,159 | T/G | intron variant | — |
| rs758121306 | 7:71,130,456 | C/T | — | uncertain significance |
| rs575395276 | 7:71,130,575 | G/A | — | benign |
| rs557986424 | 7:71,135,080 | G/A | — | likely benign |
| rs1320885111 | 7:71,175,785 | G/A | — | uncertain significance |
| rs770690227 | 7:71,175,845 | C/T | — | uncertain significance |
| rs373377222 | 7:71,175,846 | G/A | — | uncertain significance |
| rs771570497 | 7:71,175,860 | C/G | — | uncertain significance |
| rs570020508 | 7:71,175,870 | A/T | — | uncertain significance |
| rs143185553 | 7:71,175,875 | G/A | — | uncertain significance |
| rs754219082 | 7:71,177,126 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.