PGAP1

post-GPI attachment to proteins inositol deacylase 1

Summary

The protein encoded by this gene functions early in the glycosylphosphatidylinositol (GPI) biosynthetic pathway, catalyzing the inositol deacylation of GPI. The encoded protein is required for the production of GPI that can attach to proteins, and this may be an important factor in the transport of GPI-anchored proteins from the endoplasmic reticulum to the Golgi. Defects in this gene are a cause an autosomal recessive form of cognitive impairment. [provided by RefSeq, Jul 2017]

Known Variants326 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs59749746	2:197,705,753	C/G	—	benign
rs61738066	2:197,705,755	A/G	—	likely benign
rs2125773803	2:197,705,785	T/C	—	uncertain significance
rs768633076	2:197,705,963	T/C	—	uncertain significance
rs568719380	2:197,705,984	G/A	—	uncertain significance
rs147312612	2:197,705,993	G/A	—	likely benign
rs112469537	2:197,706,003	A/G	—	likely benign
rs750068372	2:197,706,018	A/G	—	likely benign
rs1559326086	2:197,706,037	A/G	—	uncertain significance
rs778039608	2:197,706,072	T/C	—	likely benign
rs139107571	2:197,706,080	T/C	—	likely benign
rs776985592	2:197,706,084	C/G	—	uncertain significance
rs375115788	2:197,706,085	T/C	—	uncertain significance
rs2469086299	2:197,706,103	A/G	—	likely benign
rs1700447508	2:197,707,425	G/T	—	likely benign
rs375452864	2:197,707,430	A/G	—	benign
rs1202995401	2:197,707,461	C/T	—	uncertain significance
rs74459402	2:197,707,471	A/G	—	likely benign
rs749798369	2:197,707,484	G/A	—	uncertain significance
rs771720370	2:197,707,488	T/C	—	uncertain significance
rs765007097	2:197,707,524	G/A	—	uncertain significance
rs2125775207	2:197,707,527	C/A	—	uncertain significance
rs911706840	2:197,707,538	T/A	—	uncertain significance
rs764109474	2:197,707,553	T/C	—	likely benign
rs1484939132	2:197,707,556	T/C	—	uncertain significance
rs150784729	2:197,708,451	C/A	—	likely benign
rs759133146	2:197,708,607	C/T	—	uncertain significance
rs762174531	2:197,708,608	G/A	—	uncertain significance
rs1700484639	2:197,708,624	A/G	—	uncertain significance
rs138036688	2:197,708,670	G/C	—	conflicting classifications of pathogenicity
rs780589705	2:197,708,694	T/C	—	uncertain significance
rs754305866	2:197,708,696	C/T	—	uncertain significance
rs755267355	2:197,708,697	G/A	—	uncertain significance
rs2469090486	2:197,708,699	A/G	—	uncertain significance
rs1169639805	2:197,708,715	C/T	—	uncertain significance
rs145600035	2:197,708,716	G/A	—	likely benign
rs745554603	2:197,708,729	C/T	—	uncertain significance
rs556240126	2:197,708,730	G/A	—	uncertain significance
rs1051067702	2:197,708,744	G/C	—	likely pathogenic
rs768328398	2:197,708,749	G/A	—	conflicting classifications of pathogenicity
rs774403384	2:197,708,752	T/G	—	uncertain significance
rs36086547	2:197,708,762	T/C	—	conflicting classifications of pathogenicity
rs750489381	2:197,708,765	G/A	—	uncertain significance
rs1052446928	2:197,708,766	A/G	—	uncertain significance
rs1162444686	2:197,708,785	A/G	—	likely benign
rs760816428	2:197,708,786	G/C	—	uncertain significance
rs1559328283	2:197,708,801	T/G	—	likely pathogenic
rs779092825	2:197,708,812	A/G	—	likely benign
rs2469090845	2:197,708,815	G/A	—	likely benign
rs186913615	2:197,708,818	G/A	—	benign
rs3795919	2:197,708,881	A/G	—	benign
rs760904211	2:197,709,253	G/T	—	uncertain significance
rs1177010707	2:197,709,258	C/T	—	uncertain significance
rs759614777	2:197,709,271	T/C	—	uncertain significance
rs765668457	2:197,709,272	T/C	—	likely benign
rs1700506024	2:197,709,284	T/C	—	likely benign
rs143960563	2:197,709,298	C/T	—	conflicting classifications of pathogenicity
rs2469091823	2:197,709,299	C/T	—	likely pathogenic
rs369759909	2:197,709,309	T/C	—	benign
rs1277778972	2:197,709,310	A/G	—	likely benign
rs1206282005	2:197,709,318	C/T	—	likely benign
rs16858898	2:197,710,542	A/G	—	benign
rs377640676	2:197,710,586	G/C	—	likely benign
rs2469093815	2:197,710,593	T/C	—	likely benign
rs780499357	2:197,710,595	A/G	—	likely benign
rs1057523793	2:197,710,600	A/C	—	likely benign
rs937847069	2:197,710,601	C/T	—	uncertain significance
rs1406991265	2:197,710,605	C/T	—	likely pathogenic
rs776817075	2:197,710,616	T/C	—	uncertain significance
rs1576086299	2:197,710,618	G/C	—	pathogenic
rs765905176	2:197,710,683	T/C	—	uncertain significance
rs1361547443	2:197,710,688	A/T	—	likely pathogenic
rs1700545839	2:197,710,693	G/A	—	likely benign
rs753237558	2:197,710,695	G/A	—	uncertain significance
rs758283563	2:197,710,718	A/T	—	uncertain significance
rs2469094289	2:197,710,727	G/A	—	uncertain significance
rs115090953	2:197,710,787	T/C	—	benign
rs759027447	2:197,711,736	G/A	—	uncertain significance
rs764748359	2:197,711,740	G/A	—	likely benign
rs1700574362	2:197,711,741	C/G	—	uncertain significance
rs1700574769	2:197,711,749	A/G	—	uncertain significance
rs1376737496	2:197,711,770	C/T	—	conflicting classifications of pathogenicity
rs139927561	2:197,711,777	C/T	—	likely benign
rs140419014	2:197,711,804	C/T	—	likely benign
rs768817708	2:197,711,805	G/A	—	uncertain significance
rs1176975147	2:197,711,826	A/T	—	likely pathogenic
rs2125778704	2:197,711,832	A/G	—	uncertain significance
rs772471528	2:197,711,837	G/A	—	likely benign
rs2469096442	2:197,711,838	G/C	—	uncertain significance
rs773607126	2:197,711,859	G/A	—	uncertain significance
rs145715800	2:197,711,869	C/T	—	likely benign
rs149815494	2:197,711,870	G/A	—	benign
rs201052846	2:197,711,872	C/T	—	uncertain significance
rs200637575	2:197,711,873	A/T	—	uncertain significance
rs2469096527	2:197,711,878	A/T	—	uncertain significance
rs757171896	2:197,711,896	C/G	—	uncertain significance
rs1169608420	2:197,711,908	C/A	—	likely pathogenic
rs2469096623	2:197,711,919	T/G	—	uncertain significance
rs148349860	2:197,711,924	C/T	—	conflicting classifications of pathogenicity
rs756037783	2:197,711,938	A/C	—	likely benign

Showing 100 of 326 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.