GALT

galactose-1-phosphate uridylyltransferase

Summary

Galactose-1-phosphate uridyl transferase (GALT) catalyzes the second step of the Leloir pathway of galactose metabolism, namely the conversion of UDP-glucose + galactose-1-phosphate to glucose-1-phosphate + UDP-galactose. The absence of this enzyme results in classic galactosemia in humans and can be fatal in the newborn period if lactose is not removed from the diet. The pathophysiology of galactosemia has not been clearly defined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]

Known Variants634 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs778861821	9:34,645,963	C/T	—	uncertain significance
rs924095458	9:34,646,310	A/T	—	uncertain significance
rs12551313	9:34,646,340	G/T	—	likely benign
rs62557482	9:34,646,523	C/T	—	uncertain significance
rs1366467657	9:34,646,578	A/C	—	uncertain significance
rs368046870	9:34,646,581	C/G	—	uncertain significance
rs1554709099	9:34,646,606	T/G	—	uncertain significance
rs144505931	9:34,646,614	G/A	—	uncertain significance
rs886063883	9:34,646,664	G/A	—	uncertain significance
rs1821109207	9:34,646,691	C/A	—	uncertain significance
rs111033639	9:34,646,702	A/G	missense variant	pathogenic
rs771702963	9:34,646,703	T/C	—	pathogenic
rs1410764100	9:34,646,707	G/A	—	likely benign
rs2132340741	9:34,646,716	A/G	—	likely benign
rs765932955	9:34,646,719	C/T	—	likely benign
rs1469998825	9:34,646,720	G/T	—	uncertain significance
rs147803976	9:34,646,725	T/G	—	likely benign
rs111033848	9:34,646,726	C/T	stop gained	pathogenic
rs111033637	9:34,646,728	G/C	missense variant	uncertain significance
rs2492858066	9:34,646,729	C/T	—	likely pathogenic
rs139122460	9:34,646,731	A/G	—	likely benign
rs1172080423	9:34,646,732	C/G	—	uncertain significance
rs757632977	9:34,646,733	G/A	—	uncertain significance
rs2492858118	9:34,646,737	G/A	—	likely benign
rs781347467	9:34,646,738	C/T	—	likely pathogenic
rs750690794	9:34,646,741	G/A	—	uncertain significance
rs759270191	9:34,646,745	C/T	—	conflicting classifications of pathogenicity
rs2132340841	9:34,646,746	A/G	—	likely benign
rs2492858277	9:34,646,749	G/A	—	likely benign
rs1205835761	9:34,646,752	G/C	—	likely benign
rs545621674	9:34,646,756	G/C	—	uncertain significance
rs1821111990	9:34,646,758	C/T	—	likely benign
rs111033635	9:34,646,768	A/G	missense variant	—
rs1365354002	9:34,646,769	C/A	—	uncertain significance
rs886042061	9:34,646,772	—	—	pathogenic
rs886042099	9:34,646,775	G/C	—	uncertain significance
rs111033636	9:34,646,783	G/A	missense variant	uncertain significance
rs794726876	9:34,646,785	—	—	pathogenic
rs2492858501	9:34,646,785	T/G	—	pathogenic
rs368244179	9:34,646,791	C/T	—	likely benign
rs1480449606	9:34,646,793	C/T	—	likely benign
rs770462098	9:34,646,794	C/A	—	likely benign
rs776194301	9:34,646,796	C/T	—	uncertain significance
rs759036942	9:34,646,797	G/A	—	likely benign
rs752065555	9:34,646,798	G/A	—	likely benign
rs762189546	9:34,646,800	A/G	—	likely benign
rs767947929	9:34,646,801	G/A	—	likely benign
rs2492858654	9:34,646,802	G/A	—	likely benign
rs1346288704	9:34,646,803	G/A	—	likely benign
rs201156392	9:34,647,040	G/C	—	likely benign
rs1289139257	9:34,647,067	C/G	—	likely benign
rs2132341385	9:34,647,069	T/C	—	likely benign
rs1465207684	9:34,647,072	C/A	—	likely benign
rs1554709136	9:34,647,078	G/A	—	likely benign
rs745457495	9:34,647,079	C/T	—	likely benign
rs1821121528	9:34,647,081	C/T	—	likely benign
rs794727235	9:34,647,083	C/G	—	uncertain significance
rs1057517415	9:34,647,084	A/G	—	pathogenic
rs2492861309	9:34,647,088	C/T	—	uncertain significance
rs2132341442	9:34,647,089	A/G	—	likely pathogenic
rs111033834	9:34,647,093	G/C	missense variant	—
rs111033643	9:34,647,094	C/A	missense variant	pathogenic
rs111033644	9:34,647,098	T/A	missense variant	—
rs111033829	9:34,647,101	G/A	missense variant	pathogenic
rs111033836	9:34,647,103	T/A	missense variant	pathogenic
rs111033645	9:34,647,110	C/T	missense variant	pathogenic
rs1362198825	9:34,647,111	G/A	—	likely benign
rs111033646	9:34,647,116	A/C	missense variant	pathogenic
rs886042060	9:34,647,121	G/A	—	pathogenic
rs767903479	9:34,647,132	G/T	—	likely benign
rs111033647	9:34,647,133	G/A	missense variant	pathogenic
rs2132341560	9:34,647,136	T/C	—	likely pathogenic
rs111033652	9:34,647,137	C/A	stop gained	pathogenic
rs886042074	9:34,647,142	C/G	—	uncertain significance
rs2132341581	9:34,647,143	A/G	—	uncertain significance
rs2132341583	9:34,647,144	C/T	—	likely benign
rs886042088	9:34,647,145	C/A	—	pathogenic
rs773683290	9:34,647,146	G/T	—	uncertain significance
rs2492861777	9:34,647,154	C/A	—	likely benign
rs111033648	9:34,647,155	G/T	missense variant	pathogenic
rs2132341618	9:34,647,156	G/A	—	likely benign
rs2132341621	9:34,647,158	C/G	—	conflicting classifications of pathogenicity
rs1131691837	9:34,647,160	T/A	—	conflicting classifications of pathogenicity
rs111033649	9:34,647,163	C/T	stop gained	pathogenic
rs766778777	9:34,647,165	G/A	—	likely benign
rs111033654	9:34,647,166	G/T	missense variant	uncertain significance
rs1554709147	9:34,647,175	G/A	—	uncertain significance
rs2492861943	9:34,647,176	A/T	—	conflicting classifications of pathogenicity
rs754140417	9:34,647,177	G/A	—	likely benign
rs2492861996	9:34,647,180	C/T	—	likely benign
rs2132341678	9:34,647,186	T/G	—	likely benign
rs1800461	9:34,647,187	C/A	missense variant	benign
rs2132341711	9:34,647,195	A/T	—	likely benign
rs1211267776	9:34,647,197	T/C	—	uncertain significance
rs111033656	9:34,647,200	C/A	missense variant	uncertain significance
rs111033658	9:34,647,202	C/T	missense variant	pathogenic
rs758430398	9:34,647,203	G/A	missense variant	pathogenic
rs193922247	9:34,647,206	A/G	missense variant	uncertain significance
rs528320335	9:34,647,213	T/G	—	likely benign
rs143994870	9:34,647,214	C/G	—	uncertain significance

Showing 100 of 634 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.