PHGDH

phosphoglycerate dehydrogenase

Summary

This gene encodes the enzyme which is involved in the early steps of L-serine synthesis in animal cells. L-serine is required for D-serine and other amino acid synthesis. The enzyme requires NAD/NADH as a cofactor and forms homotetramers for activity. Mutations in this gene have been found in a family with congenital microcephaly, psychomotor retardation and other symptoms. Multiple alternatively spliced transcript variants have been found, however the full-length nature of most are not known. [provided by RefSeq, Aug 2011]

Known Variants687 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs60544490	1:120,254,424	G/A	—	uncertain significance
rs150128831	1:120,254,439	G/A	—	uncertain significance
rs886045202	1:120,254,463	G/A	—	uncertain significance
rs561931	1:120,254,506	A/G	—	benign
rs139151932	1:120,254,536	G/A	—	likely benign
rs562038	1:120,254,545	G/C	—	benign
rs747803505	1:120,254,567	T/C	—	uncertain significance
rs886045203	1:120,254,635	C/T	—	uncertain significance
rs1331155296	1:120,254,646	A/G	—	pathogenic
rs951372478	1:120,254,647	T/C	—	pathogenic
rs2464033160	1:120,254,657	A/T	—	likely benign
rs745781701	1:120,254,658	A/G	—	uncertain significance
rs1557961852	1:120,254,661	C/T	—	likely benign
rs1650717022	1:120,254,665	G/C	—	uncertain significance
rs1650717107	1:120,254,666	G/C	—	likely benign
rs1650717188	1:120,254,667	A/T	—	pathogenic
rs2101136375	1:120,254,669	A/T	—	uncertain significance
rs199784256	1:120,254,670	G/C	—	uncertain significance
rs2101136394	1:120,254,675	C/T	—	likely benign
rs764316050	1:120,254,679	A/G	—	uncertain significance
rs2464033321	1:120,254,680	G/T	—	uncertain significance
rs1448633854	1:120,254,685	A/G	—	uncertain significance
rs2464033362	1:120,254,687	C/T	—	likely benign
rs765678440	1:120,254,693	C/T	—	likely benign
rs1236966373	1:120,254,699	C/T	—	likely benign
rs891735095	1:120,254,707	A/C	—	uncertain significance
rs1650719894	1:120,254,712	T/C	—	likely benign
rs587615037	1:120,254,713	T/A	—	pathogenic
rs2101136517	1:120,254,714	G/C	—	uncertain significance
rs1418800829	1:120,254,715	C/T	—	pathogenic
rs2464033765	1:120,254,717	A/G	—	likely benign
rs752195785	1:120,254,720	T/C	—	likely benign
rs2464033795	1:120,254,721	G/A	—	uncertain significance
rs1650720374	1:120,254,722	G/A	—	uncertain significance
rs755568069	1:120,254,724	G/C	—	uncertain significance
rs1157171557	1:120,254,726	G/C	—	likely benign
rs2464033853	1:120,254,729	G/A	—	likely benign
rs1650720815	1:120,254,731	A/G	—	uncertain significance
rs147049140	1:120,254,732	G/T	—	uncertain significance
rs376722247	1:120,254,735	G/C	—	likely benign
rs2464033951	1:120,254,738	G/A	—	likely benign
rs2101136591	1:120,254,744	G/A	—	likely benign
rs2464033990	1:120,254,747	G/A	—	likely benign
rs756796275	1:120,254,750	C/T	—	likely benign
rs904243407	1:120,254,752	T/C	—	uncertain significance
rs756952465	1:120,254,754	A/T	—	uncertain significance
rs1270606502	1:120,254,756	C/T	—	likely benign
rs1650721954	1:120,254,763	G/T	—	pathogenic
rs778630047	1:120,254,764	A/G	—	uncertain significance
rs745693493	1:120,254,765	G/T	—	uncertain significance
rs1557962025	1:120,254,772	G/C	—	uncertain significance
rs587623477	1:120,254,774	G/A	—	likely benign
rs1352826557	1:120,254,780	G/T	—	likely benign
rs143217390	1:120,254,783	G/A	—	uncertain significance
rs2464034378	1:120,254,784	G/T	—	likely pathogenic
rs936617510	1:120,254,789	G/T	—	uncertain significance
rs2464034419	1:120,254,792	A/C	—	likely benign
rs377293412	1:120,254,795	G/A	—	likely benign
rs762082098	1:120,254,802	A/T	—	likely benign
rs115928667	1:120,254,807	A/G	—	likely benign
rs138275645	1:120,254,913	G/C	—	likely benign
rs478093	1:120,255,126	A/C	—	—
rs637868	1:120,257,110	T/C	—	benign
rs477992	1:120,257,576	A/G	intron variant	—
rs550174	1:120,263,643	T/C	—	benign
rs894079	1:120,263,657	A/G	—	benign
rs773408065	1:120,263,774	A/G	—	likely benign
rs1445913005	1:120,263,775	A/T	—	likely benign
rs191621265	1:120,263,776	T/A	—	uncertain significance
rs1459406813	1:120,263,777	G/T	—	likely benign
rs1651137790	1:120,263,778	T/C	—	likely benign
rs894078	1:120,263,780	T/C	—	benign
rs764782438	1:120,263,782	T/C	—	likely benign
rs1460987400	1:120,263,786	G/T	—	likely benign
rs1351164206	1:120,263,787	C/T	—	likely benign
rs2464079432	1:120,263,788	T/C	—	likely benign
rs750037132	1:120,263,790	C/T	—	uncertain significance
rs2464079458	1:120,263,791	A/G	—	likely pathogenic
rs1296126379	1:120,263,796	T/C	—	uncertain significance
rs370979212	1:120,263,797	G/A	—	uncertain significance
rs779687118	1:120,263,814	C/T	—	uncertain significance
rs754900737	1:120,263,816	C/T	—	likely benign
rs2101154786	1:120,263,829	G/T	—	uncertain significance
rs1340275757	1:120,263,830	T/G	—	uncertain significance
rs769991971	1:120,263,834	C/T	—	likely benign
rs140185619	1:120,263,835	G/A	—	uncertain significance
rs2101154843	1:120,263,841	G/A	—	uncertain significance
rs771208719	1:120,263,849	C/T	—	likely benign
rs1032334849	1:120,263,850	G/A	—	uncertain significance
rs1167677460	1:120,263,855	T/C	—	likely benign
rs774538219	1:120,263,856	G/A	—	uncertain significance
rs2464080054	1:120,263,865	C/T	—	pathogenic
rs958052810	1:120,263,868	G/A	—	uncertain significance
rs1651146348	1:120,263,870	G/C	—	likely benign
rs746248451	1:120,263,876	C/A	—	likely benign
rs1177622207	1:120,263,877	A/C	—	likely benign
rs1441422663	1:120,263,879	G/A	—	likely benign
rs200509653	1:120,263,880	G/T	—	uncertain significance
rs2464080432	1:120,263,888	A/C	—	likely benign
rs1232918316	1:120,263,894	G/T	—	likely benign

Showing 100 of 687 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.