PIGQ

phosphatidylinositol glycan anchor biosynthesis class Q

Summary

This gene is involved in the first step in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a N-acetylglucosaminyl transferase component that is part of the complex that catalyzes transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]

Known Variants594 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2105943	16:621,612	G/C	—	—
rs12917944	16:622,565	A/G	—	benign
rs759893684	16:624,075	A/C	—	uncertain significance
rs1463376903	16:624,086	G/T	—	uncertain significance
rs887947608	16:624,093	T/G	—	uncertain significance
rs758037706	16:624,095	C/T	—	likely benign
rs763664510	16:624,097	C/A	—	uncertain significance
rs61753370	16:624,101	G/A	—	benign
rs2151044098	16:624,102	T/G	—	uncertain significance
rs781136787	16:624,107	C/T	—	likely benign
rs11864607	16:624,108	G/A	—	likely benign
rs755870667	16:624,112	C/G	—	uncertain significance
rs779289780	16:624,113	G/A	—	likely benign
rs2071979	16:624,114	A/G	—	benign
rs200914759	16:624,115	C/T	—	likely benign
rs747087089	16:624,116	G/A	—	likely benign
rs543316354	16:624,122	C/T	—	likely benign
rs149108761	16:624,123	G/A	—	conflicting classifications of pathogenicity
rs2505930577	16:624,134	G/A	—	likely benign
rs751055581	16:624,138	C/T	—	uncertain significance
rs372361502	16:624,139	G/A	—	uncertain significance
rs750315914	16:624,142	G/A	—	pathogenic
rs531991910	16:624,148	C/T	—	uncertain significance
rs56293456	16:624,149	G/A	—	benign
rs2151044155	16:624,150	G/C	—	uncertain significance
rs753650660	16:624,151	A/G	—	uncertain significance
rs1299731760	16:624,156	A/T	—	uncertain significance
rs2505930644	16:624,160	G/A	—	uncertain significance
rs1298565308	16:624,164	C/T	—	likely benign
rs148273392	16:624,165	G/A	—	uncertain significance
rs1219065717	16:624,174	G/C	—	uncertain significance
rs781121794	16:624,175	C/T	—	uncertain significance
rs746458449	16:624,176	G/A	—	likely benign
rs1269592336	16:624,179	C/T	—	likely benign
rs1453234953	16:624,184	A/G	—	uncertain significance
rs2505930729	16:624,189	C/T	—	uncertain significance
rs1437657927	16:624,194	C/T	—	likely benign
rs2151044199	16:624,195	A/T	—	uncertain significance
rs2505930761	16:624,198	C/G	—	uncertain significance
rs773989530	16:624,199	C/T	—	uncertain significance
rs767111244	16:624,203	C/T	—	likely benign
rs760734408	16:624,222	G/T	—	uncertain significance
rs1242906892	16:624,230	G/A	—	uncertain significance
rs753705578	16:624,231	C/T	—	uncertain significance
rs182739177	16:624,232	G/A	—	conflicting classifications of pathogenicity
rs2505930837	16:624,233	G/A	—	likely benign
rs777873607	16:624,239	C/T	—	likely benign
rs781377299	16:624,251	C/T	—	likely benign
rs1417725796	16:624,252	G/A	—	uncertain significance
rs748930380	16:624,257	C/T	—	likely benign
rs770308646	16:624,258	G/A	—	uncertain significance
rs2151044255	16:624,264	G/A	—	uncertain significance
rs780499636	16:624,268	C/T	—	uncertain significance
rs749659144	16:624,269	C/A	—	likely benign
rs774564687	16:624,282	C/T	—	uncertain significance
rs747901484	16:624,283	G/A	—	uncertain significance
rs2505930970	16:624,284	G/A	—	likely benign
rs1341033162	16:624,285	C/T	—	pathogenic
rs373072203	16:624,286	A/G	—	uncertain significance
rs771592713	16:624,289	A/T	—	uncertain significance
rs772823319	16:624,290	G/A	—	likely benign
rs376034140	16:624,293	C/T	—	likely benign
rs776641714	16:624,294	G/T	—	pathogenic
rs2505931024	16:624,297	G/T	—	pathogenic
rs1555451628	16:624,299	G/A	—	likely benign
rs2151044285	16:624,301	G/T	—	uncertain significance
rs141134476	16:624,305	G/A	—	likely benign
rs1309943856	16:624,307	G/C	—	uncertain significance
rs768321226	16:624,308	C/T	—	likely benign
rs1424030074	16:624,310	G/A	—	uncertain significance
rs1420862458	16:624,315	C/T	—	likely benign
rs1467620158	16:624,316	T/C	—	uncertain significance
rs1172104522	16:624,323	C/T	—	likely benign
rs750533490	16:624,345	G/C	—	uncertain significance
rs749850210	16:624,349	C/A	—	uncertain significance
rs374606154	16:624,357	C/T	—	uncertain significance
rs146187126	16:624,358	G/A	—	uncertain significance
rs1483342732	16:624,360	C/T	—	likely benign
rs78957457	16:624,364	G/T	—	uncertain significance
rs1404998693	16:624,366	C/T	—	uncertain significance
rs746519944	16:624,367	G/A	—	uncertain significance
rs200383861	16:624,369	G/A	—	uncertain significance
rs1001165187	16:624,377	C/T	—	likely benign
rs137927310	16:624,383	G/A	—	likely benign
rs775378100	16:624,395	C/T	—	likely benign
rs200388707	16:624,396	G/A	—	benign
rs767785877	16:624,399	G/A	—	conflicting classifications of pathogenicity
rs2151044384	16:624,406	A/C	—	uncertain significance
rs753882585	16:624,407	C/A	—	uncertain significance
rs374015287	16:624,408	C/T	—	uncertain significance
rs200272055	16:624,409	G/A	—	uncertain significance
rs758619621	16:624,414	G/A	—	uncertain significance
rs777579910	16:624,415	C/T	—	uncertain significance
rs111753944	16:624,424	C/T	—	likely benign
rs2151044408	16:624,426	C/T	—	uncertain significance
rs775224982	16:624,428	C/T	—	likely benign
rs146122020	16:624,429	G/A	—	conflicting classifications of pathogenicity
rs1445684819	16:624,438	G/C	—	uncertain significance
rs552657819	16:624,450	G/A	—	uncertain significance
rs2505931423	16:624,460	T/C	—	uncertain significance

Showing 100 of 594 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.