PIGV

phosphatidylinositol glycan anchor biosynthesis class V

Summary

This gene encodes a mannosyltransferase enzyme involved in the biosynthesis of glycosylphosphatidylinositol (GPI). GPI is a complex glycolipid that functions as a membrane anchor for many proteins and plays a role in multiple cellular processes including protein sorting and signal transduction. The encoded protein is localized to the endoplasmic reticulum and transfers the second mannose to the GPI backbone. Mutations in this gene are associated with hyperphosphatasia cognitive disability syndrome. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]

Known Variants291 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs71636780	1:27,114,447	G/A	—	likely benign
rs113400508	1:27,114,479	A/C	—	benign
rs118069986	1:27,114,484	C/T	—	benign
rs771484813	1:27,114,494	C/T	—	uncertain significance
rs2081261073	1:27,114,633	G/T	—	uncertain significance
rs1414686345	1:27,114,651	G/A	—	uncertain significance
rs1047829091	1:27,114,749	G/A	—	uncertain significance
rs1229317654	1:27,114,755	C/T	—	likely benign
rs113210202	1:27,115,189	G/A	—	likely benign
rs2081298334	1:27,117,243	G/A	—	uncertain significance
rs931609061	1:27,117,244	G/A	—	uncertain significance
rs757511396	1:27,117,299	G/T	—	uncertain significance
rs768302053	1:27,117,311	G/C	—	uncertain significance
rs769363441	1:27,117,328	C/T	—	uncertain significance
rs368673102	1:27,117,329	G/T	—	uncertain significance
rs995518549	1:27,117,333	G/A	—	likely benign
rs1234068522	1:27,117,343	A/G	—	uncertain significance
rs770642893	1:27,117,345	G/A	—	likely benign
rs2522137963	1:27,117,351	A/G	—	likely benign
rs773837990	1:27,117,356	G/C	—	uncertain significance
rs759988046	1:27,117,361	C/T	—	likely pathogenic
rs767977785	1:27,117,362	G/A	—	uncertain significance
rs376403688	1:27,117,388	A/G	—	uncertain significance
rs753993294	1:27,117,396	A/T	—	likely benign
rs765535086	1:27,117,402	T/C	—	likely benign
rs372703683	1:27,117,404	T/G	—	likely benign
rs113841443	1:27,120,601	C/T	—	uncertain significance
rs764728447	1:27,120,612	C/G	—	uncertain significance
rs2081347319	1:27,120,613	A/G	—	uncertain significance
rs147565152	1:27,120,619	A/G	—	uncertain significance
rs139246652	1:27,120,626	C/T	—	likely benign
rs2124193075	1:27,120,634	C/G	—	uncertain significance
rs1057523852	1:27,120,636	T/C	—	likely benign
rs369275802	1:27,120,640	G/A	—	conflicting classifications of pathogenicity
rs1306180555	1:27,120,645	C/T	—	likely benign
rs1409303009	1:27,120,654	T/G	—	likely benign
rs2124193175	1:27,120,655	C/T	—	uncertain significance
rs752514953	1:27,120,658	C/T	—	uncertain significance
rs148135928	1:27,120,659	G/A	—	uncertain significance
rs145160045	1:27,120,671	C/A	—	conflicting classifications of pathogenicity
rs756855102	1:27,120,673	G/T	—	uncertain significance
rs771869741	1:27,120,683	A/G	—	uncertain significance
rs2081348544	1:27,120,689	T/C	—	uncertain significance
rs2081348576	1:27,120,690	C/T	—	likely benign
rs2522164361	1:27,120,705	G/C	—	likely benign
rs2522164379	1:27,120,706	G/A	—	uncertain significance
rs769117896	1:27,120,708	C/T	—	likely benign
rs777251503	1:27,120,709	G/A	—	uncertain significance
rs534283082	1:27,120,723	G/A	—	conflicting classifications of pathogenicity
rs773179141	1:27,120,724	G/A	—	uncertain significance
rs2081349207	1:27,120,739	T/C	—	likely benign
rs2522164787	1:27,120,743	T/G	—	uncertain significance
rs561858083	1:27,120,747	T/C	—	likely benign
rs760514806	1:27,120,748	G/A	—	uncertain significance
rs2081349672	1:27,120,767	A/G	—	uncertain significance
rs1389268067	1:27,120,776	A/G	—	uncertain significance
rs749928862	1:27,120,783	C/T	—	likely benign
rs2081350104	1:27,120,787	T/C	—	uncertain significance
rs2081350228	1:27,120,790	C/T	—	uncertain significance
rs2124193748	1:27,120,791	C/T	—	uncertain significance
rs201121029	1:27,120,793	G/A	—	uncertain significance
rs2522165586	1:27,120,810	G/C	—	likely benign
rs1056953594	1:27,120,812	T/C	—	uncertain significance
rs2522165634	1:27,120,813	G/T	—	likely benign
rs2124193880	1:27,120,829	T/C	—	likely benign
rs377286273	1:27,120,837	C/G	—	uncertain significance
rs372631555	1:27,120,841	C/T	—	conflicting classifications of pathogenicity
rs180892038	1:27,120,842	G/A	—	conflicting classifications of pathogenicity
rs1195044511	1:27,120,845	G/T	—	uncertain significance
rs376858853	1:27,120,849	A/G	—	likely benign
rs2124194011	1:27,120,850	C/T	—	likely benign
rs767718305	1:27,120,852	G/A	—	likely benign
rs2522166198	1:27,120,856	C/T	—	likely benign
rs1186562909	1:27,120,858	A/G	—	likely benign
rs1172094159	1:27,120,859	C/T	—	uncertain significance
rs757137280	1:27,120,860	G/A	—	uncertain significance
rs149582139	1:27,120,871	C/T	—	likely benign
rs148662665	1:27,120,873	G/A	—	conflicting classifications of pathogenicity
rs142192097	1:27,120,874	A/G	—	conflicting classifications of pathogenicity
rs765982367	1:27,120,879	G/A	—	likely benign
rs754600059	1:27,120,885	A/G	—	likely benign
rs1267164610	1:27,120,893	A/G	—	uncertain significance
rs139724134	1:27,120,915	T/C	—	likely benign
rs2081352853	1:27,120,934	C/G	—	uncertain significance
rs1304350165	1:27,120,943	C/T	—	likely benign
rs1365318573	1:27,120,945	G/T	—	likely benign
rs371892825	1:27,120,953	A/G	—	uncertain significance
rs952234034	1:27,120,959	C/T	—	uncertain significance
rs185641230	1:27,120,964	C/T	—	conflicting classifications of pathogenicity
rs2081353438	1:27,120,974	A/T	—	uncertain significance
rs765065261	1:27,120,975	T/C	—	likely benign
rs1057524351	1:27,120,977	C/G	—	uncertain significance
rs773349099	1:27,120,980	C/A	—	uncertain significance
rs387907023	1:27,120,992	G/A	missense variant	pathogenic
rs201332799	1:27,120,998	G/A	—	likely benign
rs2522168086	1:27,120,999	C/T	—	likely benign
rs2124194794	1:27,121,004	C/T	—	uncertain significance
rs2522168223	1:27,121,006	A/C	—	uncertain significance
rs767117669	1:27,121,007	A/G	—	uncertain significance
rs376328153	1:27,121,019	C/A	missense variant	pathogenic

Showing 100 of 291 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.