GLDC

glycine decarboxylase

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 P protein, which binds to glycine and enables the methylamine group from glycine to be transferred to the T protein. Defects in this gene are a cause of nonketotic hyperglycinemia (NKH).[provided by RefSeq, Jan 2010]

Known Variants1,789 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs73639311	9:6,532,460	G/C	—	likely benign
rs768890473	9:6,532,471	G/A	—	uncertain significance
rs7848919	9:6,532,477	G/A	—	benign
rs999698910	9:6,532,521	A/C	—	uncertain significance
rs1061407	9:6,532,544	G/A	—	benign
rs35834773	9:6,532,607	C/T	—	uncertain significance
rs907978914	9:6,532,639	C/A	—	uncertain significance
rs1383579539	9:6,532,672	C/A	—	uncertain significance
rs111326356	9:6,532,760	C/T	—	likely benign
rs537707294	9:6,532,781	C/A	—	likely benign
rs749941145	9:6,532,782	A/C	—	uncertain significance
rs184498089	9:6,532,788	G/C	—	likely benign
rs577665662	9:6,532,829	G/A	—	uncertain significance
rs12350734	9:6,532,855	C/T	—	likely benign
rs148273307	9:6,532,902	T/A	—	uncertain significance
rs2228098	9:6,533,010	G/C	—	benign
rs764814250	9:6,533,012	G/C	—	conflicting classifications of pathogenicity
rs2129641056	9:6,533,023	A/T	—	likely benign
rs749409925	9:6,533,026	C/T	—	likely benign
rs150149798	9:6,533,027	G/A	—	uncertain significance
rs1294726700	9:6,533,030	C/T	—	uncertain significance
rs1034808665	9:6,533,032	C/G	—	uncertain significance
rs2129641086	9:6,533,035	T/A	—	uncertain significance
rs1444245039	9:6,533,040	C/A	—	uncertain significance
rs2129641096	9:6,533,041	A/G	—	likely benign
rs112299567	9:6,533,061	C/T	—	uncertain significance
rs1179382589	9:6,533,062	T/C	—	likely benign
rs773642256	9:6,533,070	G/C	—	uncertain significance
rs2489005985	9:6,533,071	T/A	—	likely benign
rs751846463	9:6,533,073	G/A	—	uncertain significance
rs975199715	9:6,533,077	G/A	—	likely benign
rs555776146	9:6,533,078	G/A	—	uncertain significance
rs1817034798	9:6,533,080	A/G	—	likely benign
rs1335539399	9:6,533,083	A/G	—	likely benign
rs2129641188	9:6,533,085	C/T	—	uncertain significance
rs759229432	9:6,533,086	C/G	—	likely benign
rs1817035007	9:6,533,087	A/C	—	uncertain significance
rs2489006020	9:6,533,088	G/A	—	likely benign
rs757398632	9:6,533,089	G/T	—	uncertain significance
rs2129641211	9:6,533,090	T/C	—	uncertain significance
rs138640017	9:6,533,092	C/G	—	conflicting classifications of pathogenicity
rs1296191006	9:6,533,094	G/A	—	pathogenic
rs2489006038	9:6,533,095	A/G	—	likely benign
rs1554641505	9:6,533,097	C/T	—	likely pathogenic
rs2489006044	9:6,533,098	T/G	—	likely benign
rs1406713104	9:6,533,100	C/T	—	conflicting classifications of pathogenicity
rs1187433357	9:6,533,102	T/C	—	uncertain significance
rs2489006066	9:6,533,107	G/A	—	likely benign
rs764054067	9:6,533,110	A/C	—	uncertain significance
rs2489006074	9:6,533,111	T/G	—	uncertain significance
rs149336868	9:6,533,114	A/G	—	uncertain significance
rs1162754179	9:6,533,115	T/C	—	uncertain significance
rs146045718	9:6,533,116	C/T	—	conflicting classifications of pathogenicity
rs749512886	9:6,533,117	C/T	—	pathogenic
rs1288008254	9:6,533,118	G/A	—	pathogenic
rs1817036068	9:6,533,123	A/G	—	uncertain significance
rs140028660	9:6,533,124	T/A	—	uncertain significance
rs142004524	9:6,533,125	C/T	—	conflicting classifications of pathogenicity
rs369837674	9:6,533,126	G/A	—	uncertain significance
rs1554641519	9:6,533,132	C/T	—	pathogenic
rs1057515605	9:6,533,133	A/G	—	uncertain significance
rs1270215089	9:6,533,134	G/A	—	likely benign
rs2489006122	9:6,533,137	T/C	—	likely benign
rs1335607734	9:6,533,140	G/A	—	likely benign
rs772574530	9:6,533,142	T/C	missense variant	pathogenic
rs1271866161	9:6,533,143	C/G	—	uncertain significance
rs550514750	9:6,533,144	T/G	—	uncertain significance
rs2129641363	9:6,533,150	T/G	—	uncertain significance
rs1817036956	9:6,533,152	C/T	—	likely benign
rs150624881	9:6,533,154	C/T	—	uncertain significance
rs1052505781	9:6,533,155	G/A	—	conflicting classifications of pathogenicity
rs2129641379	9:6,533,158	G/A	—	likely benign
rs949553434	9:6,533,160	G/A	—	uncertain significance
rs1474611877	9:6,533,161	C/G	—	uncertain significance
rs1185093844	9:6,533,164	C/T	—	likely benign
rs138786708	9:6,533,168	G/C	—	likely benign
rs769512301	9:6,533,174	A/C	—	likely benign
rs557062703	9:6,533,176	G/T	—	likely benign
rs775143393	9:6,533,178	T/C	—	likely benign
rs12351820	9:6,533,328	C/G	—	likely benign
rs143140771	9:6,533,329	C/T	—	likely benign
rs75439312	9:6,534,419	C/T	—	likely benign
rs3818705	9:6,534,436	A/T	—	benign
rs2282162	9:6,534,466	A/G	—	benign
rs12339602	9:6,534,571	A/G	—	likely benign
rs1434270251	9:6,534,690	C/G	—	likely benign
rs372909849	9:6,534,691	A/C	—	likely benign
rs775233747	9:6,534,692	G/A	—	likely benign
rs2489008647	9:6,534,696	C/A	—	likely benign
rs2489008656	9:6,534,699	A/G	—	likely benign
rs768091555	9:6,534,703	C/A	splice region variant	pathogenic
rs73639325	9:6,534,705	T/C	—	likely benign
rs386833575	9:6,534,707	C/G	—	pathogenic
rs113736090	9:6,534,708	G/A	—	conflicting classifications of pathogenicity
rs2489008707	9:6,534,711	T/A	—	likely benign
rs2489008726	9:6,534,720	T/G	—	likely benign
rs2489008730	9:6,534,723	C/T	—	likely benign
rs554230348	9:6,534,724	A/G	—	uncertain significance
rs1587908683	9:6,534,726	C/G	—	likely pathogenic
rs2489008751	9:6,534,727	T/C	—	uncertain significance

Showing 100 of 1,789 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.