ALG3
ALG3 alpha-1,3- mannosyltransferase
Summary
This gene encodes a member of the ALG3 family. The encoded protein catalyses the addition of the first dol-P-Man derived mannose in an alpha 1,3 linkage to Man5GlcNAc2-PP-Dol. Defects in this gene have been associated with congenital disorder of glycosylation type Id (CDG-Id) characterized by abnormal N-glycosylation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]
Known Variants188 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs186599528 | 3:183,960,150 | G/A | — | uncertain significance |
| rs1577100095 | 3:183,960,194 | A/G | — | uncertain significance |
| rs776636517 | 3:183,960,237 | G/A | — | uncertain significance |
| rs706584 | 3:183,960,252 | C/A | — | benign |
| rs757011568 | 3:183,960,297 | G/A | — | likely benign |
| rs770095687 | 3:183,960,339 | A/T | — | uncertain significance |
| rs372724502 | 3:183,960,347 | C/T | — | likely benign |
| rs79144888 | 3:183,960,348 | G/A | — | likely benign |
| rs1560161567 | 3:183,960,356 | C/T | — | pathogenic |
| rs925568475 | 3:183,960,365 | C/T | — | likely benign |
| rs375976807 | 3:183,960,376 | C/T | — | uncertain significance |
| rs573414976 | 3:183,960,377 | G/A | — | likely benign |
| rs116621135 | 3:183,960,404 | G/A | — | likely benign |
| rs933387419 | 3:183,960,407 | G/C | — | uncertain significance |
| rs889118173 | 3:183,960,426 | G/A | — | uncertain significance |
| rs1287098925 | 3:183,960,431 | C/T | — | pathogenic |
| rs377091766 | 3:183,960,443 | G/A | — | likely benign |
| rs758528909 | 3:183,960,449 | C/A | — | likely benign |
| rs761215928 | 3:183,960,463 | A/G | — | uncertain significance |
| rs372929338 | 3:183,960,596 | G/A | — | likely benign |
| rs376927697 | 3:183,960,601 | C/G | — | pathogenic |
| rs370304622 | 3:183,960,609 | G/A | — | uncertain significance |
| rs373887893 | 3:183,960,623 | G/A | — | uncertain significance |
| rs1577101046 | 3:183,960,627 | A/G | — | likely benign |
| rs377073728 | 3:183,960,647 | A/G | — | uncertain significance |
| rs753913644 | 3:183,960,648 | G/A | — | likely benign |
| rs186946267 | 3:183,960,671 | C/T | — | conflicting classifications of pathogenicity |
| rs374164530 | 3:183,960,672 | G/A | — | uncertain significance |
| rs534288406 | 3:183,960,678 | C/T | — | uncertain significance |
| rs546890576 | 3:183,960,694 | C/T | — | pathogenic |
| rs762510540 | 3:183,960,695 | G/A | — | likely pathogenic |
| rs1560162116 | 3:183,960,718 | T/C | — | pathogenic |
| rs568371168 | 3:183,960,731 | G/T | — | conflicting classifications of pathogenicity |
| rs1323127252 | 3:183,960,740 | C/T | — | uncertain significance |
| rs370373115 | 3:183,960,741 | G/T | — | likely benign |
| rs73887420 | 3:183,960,882 | C/T | — | likely benign |
| rs76811996 | 3:183,961,037 | G/A | — | likely benign |
| rs6806627 | 3:183,961,154 | C/T | — | benign |
| rs843331 | 3:183,961,180 | C/A | — | benign |
| rs563745771 | 3:183,961,214 | A/C | — | — |
| rs1318235778 | 3:183,961,328 | A/C | — | likely benign |
| rs1553827968 | 3:183,961,360 | G/A | — | pathogenic |
| rs751758378 | 3:183,961,366 | G/A | — | uncertain significance |
| rs1718953951 | 3:183,961,374 | C/T | — | uncertain significance |
| rs2233469 | 3:183,961,380 | G/C | — | uncertain significance |
| rs372494174 | 3:183,961,397 | C/T | — | benign |
| rs756802179 | 3:183,961,398 | G/A | — | uncertain significance |
| rs2233468 | 3:183,961,406 | A/G | — | likely benign |
| rs2473849143 | 3:183,961,407 | C/T | — | uncertain significance |
| rs190571910 | 3:183,961,422 | G/A | — | conflicting classifications of pathogenicity |
| rs2233467 | 3:183,961,447 | A/G | — | likely benign |
| rs1718971373 | 3:183,961,569 | C/T | — | likely benign |
| rs2108440580 | 3:183,961,582 | T/C | — | uncertain significance |
| rs1718972826 | 3:183,961,590 | G/T | — | likely pathogenic |
| rs779788835 | 3:183,961,593 | G/A | — | likely benign |
| rs373514167 | 3:183,961,597 | G/T | — | uncertain significance |
| rs557190648 | 3:183,961,621 | T/C | — | uncertain significance |
| rs996591067 | 3:183,961,623 | G/A | — | likely benign |
| rs772081381 | 3:183,961,648 | G/A | — | uncertain significance |
| rs764510427 | 3:183,961,654 | T/A | — | uncertain significance |
| rs1560162887 | 3:183,961,662 | G/A | — | likely benign |
| rs370912574 | 3:183,961,665 | C/T | — | uncertain significance |
| rs2233466 | 3:183,961,666 | G/A | — | conflicting classifications of pathogenicity |
| rs2108440706 | 3:183,961,699 | T/C | — | uncertain significance |
| rs528154210 | 3:183,961,712 | G/T | — | uncertain significance |
| rs780902065 | 3:183,961,714 | C/T | — | uncertain significance |
| rs747953768 | 3:183,961,715 | G/A | — | pathogenic |
| rs376342417 | 3:183,961,721 | G/A | — | uncertain significance |
| rs749229743 | 3:183,961,733 | G/A | — | uncertain significance |
| rs142901178 | 3:183,961,734 | G/A | — | conflicting classifications of pathogenicity |
| rs1718985510 | 3:183,961,748 | T/G | — | uncertain significance |
| rs1085307980 | 3:183,961,759 | A/G | missense variant | pathogenic |
| rs2108440795 | 3:183,961,762 | A/T | — | uncertain significance |
| rs2233465 | 3:183,961,834 | A/G | — | likely benign |
| rs1220943105 | 3:183,962,379 | A/T | — | likely benign |
| rs367758353 | 3:183,962,398 | A/C | — | likely benign |
| rs1174962210 | 3:183,962,419 | G/A | — | conflicting classifications of pathogenicity |
| rs755828168 | 3:183,962,425 | C/T | — | likely benign |
| rs537211234 | 3:183,962,430 | G/A | — | uncertain significance |
| rs146607327 | 3:183,962,446 | G/A | — | likely benign |
| rs1423328264 | 3:183,962,459 | A/G | — | uncertain significance |
| rs545724911 | 3:183,962,473 | G/A | — | likely benign |
| rs376274282 | 3:183,962,476 | G/T | — | likely benign |
| rs2108441361 | 3:183,962,482 | C/T | — | likely benign |
| rs1553828467 | 3:183,962,489 | A/G | — | uncertain significance |
| rs1719034314 | 3:183,962,504 | G/A | — | uncertain significance |
| rs368253820 | 3:183,962,517 | G/A | — | conflicting classifications of pathogenicity |
| rs372141050 | 3:183,962,519 | G/A | — | conflicting classifications of pathogenicity |
| rs376494669 | 3:183,962,527 | G/A | — | likely benign |
| rs77177287 | 3:183,962,862 | G/A | — | likely benign |
| rs1177025121 | 3:183,962,977 | G/A | — | likely benign |
| rs1553828635 | 3:183,962,987 | T/G | — | uncertain significance |
| rs2233464 | 3:183,963,000 | A/G | — | benign |
| rs2473852569 | 3:183,963,012 | G/A | — | likely benign |
| rs550144109 | 3:183,963,013 | C/T | — | uncertain significance |
| rs757503323 | 3:183,963,028 | A/T | — | uncertain significance |
| rs1171334770 | 3:183,963,041 | G/A | — | uncertain significance |
| rs780507509 | 3:183,963,042 | G/A | — | likely benign |
| rs747561539 | 3:183,963,046 | A/G | — | uncertain significance |
| rs1719066241 | 3:183,963,047 | G/A | — | uncertain significance |
Showing 100 of 188 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.