PIGC
phosphatidylinositol glycan anchor biosynthesis class C
Summary
This gene encodes an endoplasmic reticulum associated protein that is involved in glycosylphosphatidylinositol (GPI) lipid anchor biosynthesis. The GPI lipid anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. The encoded protein is one subunit of the GPI N-acetylglucosaminyl (GlcNAc) transferase that transfers GlcNAc to phosphatidylinositol (PI) on the cytoplasmic side of the endoplasmic reticulum. Two alternatively spliced transcripts that encode the same protein have been found for this gene. A pseudogene on chromosome 11 has also been characterized. [provided by RefSeq, Jul 2008]
Known Variants48 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1647325450 | 1:172,410,882 | C/A | — | uncertain significance |
| rs777363797 | 1:172,410,898 | T/G | — | uncertain significance |
| rs2526985114 | 1:172,410,902 | T/C | — | likely benign |
| rs770671752 | 1:172,410,904 | C/A | — | pathogenic |
| rs2526985207 | 1:172,410,913 | C/T | — | uncertain significance |
| rs370905635 | 1:172,410,951 | C/T | — | uncertain significance |
| rs1063412 | 1:172,410,967 | A/G | — | benign |
| rs751068367 | 1:172,411,024 | T/C | — | uncertain significance |
| rs786205667 | 1:172,411,104 | A/G | missense variant | pathogenic |
| rs1278813615 | 1:172,411,119 | A/G | — | uncertain significance |
| rs1553259602 | 1:172,411,128 | A/G | — | likely pathogenic |
| rs779776538 | 1:172,411,179 | C/T | — | uncertain significance |
| rs768479943 | 1:172,411,189 | G/A | — | uncertain significance |
| rs1553259614 | 1:172,411,197 | A/C | — | likely pathogenic |
| rs140958278 | 1:172,411,206 | G/C | — | uncertain significance |
| rs2526987313 | 1:172,411,230 | G/A | — | uncertain significance |
| rs756094179 | 1:172,411,232 | T/C | — | likely benign |
| rs372409223 | 1:172,411,233 | A/G | — | uncertain significance |
| rs138512059 | 1:172,411,265 | A/G | — | benign |
| rs1413366993 | 1:172,411,279 | T/A | — | uncertain significance |
| rs200105210 | 1:172,411,318 | T/C | — | uncertain significance |
| rs149668341 | 1:172,411,352 | C/T | — | likely benign |
| rs61747502 | 1:172,411,370 | A/G | — | likely benign |
| rs146481462 | 1:172,411,374 | G/A | — | uncertain significance |
| rs2526988730 | 1:172,411,427 | A/G | — | likely benign |
| rs151276937 | 1:172,411,433 | C/A | — | uncertain significance |
| rs199866593 | 1:172,411,438 | G/A | — | uncertain significance |
| rs61747503 | 1:172,411,455 | A/G | — | uncertain significance |
| rs781352019 | 1:172,411,477 | C/T | — | uncertain significance |
| rs372888143 | 1:172,411,488 | G/T | — | uncertain significance |
| rs2230471 | 1:172,411,496 | G/A | — | benign |
| rs1647406021 | 1:172,411,497 | C/T | — | uncertain significance |
| rs2149169681 | 1:172,411,507 | A/T | — | uncertain significance |
| rs139238043 | 1:172,411,516 | G/A | — | uncertain significance |
| rs1317534765 | 1:172,411,538 | C/T | — | uncertain significance |
| rs2526989672 | 1:172,411,540 | T/C | — | uncertain significance |
| rs375570541 | 1:172,411,625 | G/T | — | uncertain significance |
| rs149404118 | 1:172,411,637 | A/G | — | benign |
| rs779814454 | 1:172,411,644 | T/C | — | uncertain significance |
| rs201429163 | 1:172,411,650 | C/T | — | uncertain significance |
| rs762595686 | 1:172,411,669 | G/T | — | likely benign |
| rs761746862 | 1:172,411,672 | G/A | — | uncertain significance |
| rs750452407 | 1:172,411,680 | T/C | — | uncertain significance |
| rs141135424 | 1:172,411,693 | A/G | — | uncertain significance |
| rs115209243 | 1:172,411,702 | G/A | — | conflicting classifications of pathogenicity |
| rs2526991027 | 1:172,411,727 | G/C | — | likely benign |
| rs1416846556 | 1:172,411,747 | C/T | — | uncertain significance |
| rs3213563 | 1:172,412,995 | T/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.