GCSH

glycine cleavage system protein H

Summary

Degradation of glycine is brought about by the glycine cleavage system, which is composed of four mitochondrial protein components: P protein (a pyridoxal phosphate-dependent glycine decarboxylase), H protein (a lipoic acid-containing protein), T protein (a tetrahydrofolate-requiring enzyme), and L protein (a lipoamide dehydrogenase). The protein encoded by this gene is the H protein, which transfers the methylamine group of glycine from the P protein to the T protein. Defects in this gene are a cause of nonketotic hyperglycinemia (NKH). Two transcript variants, one protein-coding and the other probably not protein-coding,have been found for this gene. Also, several transcribed and non-transcribed pseudogenes of this gene exist throughout the genome.[provided by RefSeq, Jan 2010]

Known Variants106 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs200021264	16:81,116,307	G/C	—	benign
rs8177953	16:81,116,383	T/G	—	benign
rs760566469	16:81,116,479	C/T	—	uncertain significance
rs770835365	16:81,116,481	A/G	—	uncertain significance
rs1322444223	16:81,116,482	T/A	—	uncertain significance
rs1189328619	16:81,116,488	T/G	—	uncertain significance
rs1972198288	16:81,116,491	T/C	—	uncertain significance
rs944048995	16:81,116,547	A/G	—	uncertain significance
rs754640234	16:81,116,550	G/A	—	uncertain significance
rs746937065	16:81,116,568	C/A	—	uncertain significance
rs386833859	16:81,116,569	C/A	—	pathogenic
rs770923322	16:81,116,576	C/G	—	likely benign
rs200332491	16:81,116,586	C/T	—	likely benign
rs56032321	16:81,117,906	A/C	—	benign
rs749405278	16:81,118,069	A/G	—	uncertain significance
rs540817676	16:81,118,079	C/T	—	uncertain significance
rs766903708	16:81,118,092	C/T	—	uncertain significance
rs1597163552	16:81,118,096	T/C	—	likely benign
rs868224309	16:81,118,117	T/C	—	likely benign
rs753037667	16:81,118,128	C/T	—	uncertain significance
rs2507661713	16:81,118,148	G/A	—	pathogenic
rs779721507	16:81,118,163	C/T	—	uncertain significance
rs772207828	16:81,118,174	C/T	—	likely benign
rs747131765	16:81,118,179	T/C	—	uncertain significance
rs1555529308	16:81,118,203	A/G	—	likely benign
rs56119129	16:81,118,266	C/T	—	benign
rs7187102	16:81,118,289	C/T	—	benign
rs74758617	16:81,118,376	G/C	—	benign
rs142446613	16:81,118,612	A/G	intron variant	—
rs8177927	16:81,120,034	T/C	intron variant	—
rs8177911	16:81,121,101	C/A	—	benign
rs7200400	16:81,121,145	T/C	—	benign
rs8177910	16:81,121,183	T/C	—	benign
rs571999768	16:81,121,196	G/A	—	likely benign
rs8177909	16:81,121,197	A/C	—	likely benign
rs1972309218	16:81,121,199	C/T	—	likely benign
rs8177908	16:81,121,237	G/C	—	benign
rs2151769189	16:81,121,239	G/T	—	uncertain significance
rs1972310010	16:81,121,244	C/A	—	uncertain significance
rs8177907	16:81,121,246	A/G	—	benign
rs536733893	16:81,121,252	A/T	—	likely benign
rs1236344907	16:81,121,267	T/G	—	uncertain significance
rs1597166327	16:81,121,278	A/G	—	likely benign
rs8177906	16:81,121,353	T/C	—	benign
rs8177905	16:81,121,388	G/A	—	benign
rs111699484	16:81,124,013	G/C	—	benign
rs112399411	16:81,124,057	C/A	—	benign
rs8177878	16:81,124,152	A/G	—	benign
rs375928222	16:81,124,198	T/G	—	likely benign
rs769222264	16:81,124,208	G/A	stop gained	pathogenic
rs8177877	16:81,124,216	T/C	—	benign
rs145768524	16:81,124,231	G/A	—	uncertain significance
rs368716465	16:81,124,238	T/A	—	uncertain significance
rs2507679454	16:81,124,264	T/C	—	pathogenic
rs8177876	16:81,124,275	G/A	—	benign
rs142243166	16:81,124,281	A/G	—	likely benign
rs1972380968	16:81,124,283	G/A	—	uncertain significance
rs1972381011	16:81,124,288	A/G	—	uncertain significance
rs8177874	16:81,124,413	G/A	—	benign
rs8177849	16:81,129,590	A/G	—	benign
rs2316925	16:81,129,649	G/A	—	benign
rs544589105	16:81,129,721	G/A	—	benign
rs2507694141	16:81,129,743	C/T	—	likely benign
rs1972502072	16:81,129,751	G/C	—	uncertain significance
rs1185522027	16:81,129,752	T/C	—	likely benign
rs867378019	16:81,129,755	A/G	—	likely benign
rs1245942364	16:81,129,769	G/A	—	uncertain significance
rs888630308	16:81,129,771	A/C	—	uncertain significance
rs2507694309	16:81,129,781	C/T	—	uncertain significance
rs941391744	16:81,129,782	C/T	—	likely benign
rs1486401687	16:81,129,785	C/T	—	likely benign
rs2507694334	16:81,129,787	G/C	—	uncertain significance
rs8177847	16:81,129,794	G/C	—	benign
rs1003539348	16:81,129,795	G/A	—	uncertain significance
rs775381594	16:81,129,800	C/T	—	likely benign
rs895717109	16:81,129,802	G/A	—	uncertain significance
rs1034974350	16:81,129,804	G/T	—	uncertain significance
rs1443267686	16:81,129,807	C/T	—	uncertain significance
rs958918692	16:81,129,809	G/A	—	likely benign
rs533447730	16:81,129,811	G/A	—	uncertain significance
rs1010129827	16:81,129,812	C/A	—	likely benign
rs1437879081	16:81,129,816	G/A	—	uncertain significance
rs8052579	16:81,129,822	G/A	—	benign
rs540997326	16:81,129,831	G/A	—	conflicting classifications of pathogenicity
rs1304674402	16:81,129,833	G/A	—	likely benign
rs967101315	16:81,129,835	G/A	—	uncertain significance
rs1231763519	16:81,129,838	G/A	—	likely benign
rs1339562877	16:81,129,840	G/A	—	uncertain significance
rs2151776041	16:81,129,842	G/A	—	likely benign
rs2151776055	16:81,129,846	A/G	—	uncertain significance
rs1000023343	16:81,129,847	G/C	—	uncertain significance
rs760969799	16:81,129,851	G/A	—	likely benign
rs766468139	16:81,129,853	C/T	—	uncertain significance
rs1254680841	16:81,129,856	G/A	—	uncertain significance
rs549703240	16:81,129,859	C/T	—	uncertain significance
rs546860042	16:81,129,862	T/C	—	uncertain significance
rs1373562429	16:81,129,864	C/T	—	uncertain significance
rs976425490	16:81,129,865	G/A	—	uncertain significance
rs1567591606	16:81,129,867	A/C	—	uncertain significance
rs1169730149	16:81,129,868	C/T	—	uncertain significance

Showing 100 of 106 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.