C1GALT1C1
C1GALT1 specific chaperone 1
Summary
This gene encodes a type II transmembrane protein that is similar to the core 1 beta1,3-galactosyltransferase 1, which catalyzes the synthesis of the core-1 structure, also known as Thomsen-Friedenreich antigen, on O-linked glycans. This gene product lacks the galactosyltransferase activity itself, but instead acts as a molecular chaperone required for the folding, stability and full activity of the core 1 beta1,3-galactosyltransferase 1. Mutations in this gene have been associated with Tn syndrome. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Dec 2009]
Known Variants34 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs749131756 | X:119,760,082 | C/G | — | uncertain significance |
| rs2147383410 | X:119,760,128 | T/C | — | likely benign |
| rs2521329066 | X:119,760,259 | T/C | — | uncertain significance |
| rs146957987 | X:119,760,267 | C/T | — | uncertain significance |
| rs200973382 | X:119,760,356 | C/G | — | likely benign |
| rs758199720 | X:119,760,360 | T/C | — | uncertain significance |
| rs181611793 | X:119,760,386 | C/T | — | likely benign |
| rs752289824 | X:119,760,416 | A/T | — | uncertain significance |
| rs755698477 | X:119,760,425 | G/C | — | uncertain significance |
| rs397514537 | X:119,760,445 | A/G | missense variant | pathogenic |
| rs778819609 | X:119,760,482 | A/C | — | pathogenic |
| rs1041939303 | X:119,760,507 | G/C | — | uncertain significance |
| rs372151456 | X:119,760,509 | G/T | — | uncertain significance |
| rs137853599 | X:119,760,568 | C/T | missense variant | pathogenic |
| rs186603233 | X:119,760,581 | C/T | — | likely benign |
| rs143511599 | X:119,760,582 | G/A | — | likely benign |
| rs761999635 | X:119,760,592 | G/A | — | uncertain significance |
| rs45557031 | X:119,760,594 | G/A | — | benign |
| rs17261572 | X:119,760,629 | A/T | missense variant | likely benign |
| rs191459785 | X:119,760,631 | C/T | — | uncertain significance |
| rs2521330780 | X:119,760,684 | A/G | — | uncertain significance |
| rs1274314052 | X:119,760,705 | T/C | — | uncertain significance |
| rs149340486 | X:119,760,720 | C/T | — | benign |
| rs2521331057 | X:119,760,756 | G/A | — | pathogenic |
| rs775413235 | X:119,760,806 | A/G | — | likely benign |
| rs137853598 | X:119,760,820 | G/A | stop gained | pathogenic |
| rs2521331289 | X:119,760,829 | T/C | — | uncertain significance |
| rs763941184 | X:119,760,844 | G/A | — | uncertain significance |
| rs371463304 | X:119,760,870 | T/C | — | uncertain significance |
| rs755636243 | X:119,760,883 | G/A | — | uncertain significance |
| rs749791934 | X:119,760,887 | T/C | — | likely benign |
| rs146307271 | X:119,760,952 | T/C | — | benign |
| rs2521331868 | X:119,760,963 | G/T | — | likely pathogenic |
| rs587776928 | X:119,761,019 | C/G | missense variant | pathogenic |
Gene information from NCBI Gene. Variant classifications from ClinVar.