ALDH6A1

aldehyde dehydrogenase 6 family member A1

Summary

This gene encodes a member of the aldehyde dehydrogenase protein family. The encoded protein is a mitochondrial methylmalonate semialdehyde dehydrogenase that plays a role in the valine and pyrimidine catabolic pathways. This protein catalyzes the irreversible oxidative decarboxylation of malonate and methylmalonate semialdehydes to acetyl- and propionyl-CoA. Methylmalonate semialdehyde dehydrogenase deficiency is characterized by elevated beta-alanine, 3-hydroxypropionic acid, and both isomers of 3-amino and 3-hydroxyisobutyric acids in urine organic acids. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]

Known Variants191 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs114251476	14:74,524,351	T/G	—	benign
rs939793039	14:74,524,484	G/A	—	uncertain significance
rs1536	14:74,524,529	A/G	—	benign
rs2060253320	14:74,524,571	C/G	—	uncertain significance
rs10139971	14:74,524,665	T/C	—	benign
rs145794069	14:74,524,828	A/G	—	likely benign
rs181822532	14:74,524,854	C/A	—	likely benign
rs945573017	14:74,524,923	G/T	—	uncertain significance
rs112689182	14:74,524,984	C/T	—	benign
rs750992221	14:74,525,017	G/A	—	uncertain significance
rs76665287	14:74,525,047	C/T	—	benign
rs2060267487	14:74,525,084	A/G	—	uncertain significance
rs116025535	14:74,525,188	G/A	—	benign
rs185004947	14:74,525,382	G/A	—	uncertain significance
rs72725924	14:74,525,407	T/C	—	uncertain significance
rs10200	14:74,525,411	A/G	—	benign
rs147392789	14:74,525,441	C/G	—	likely benign
rs566580516	14:74,525,458	T/G	—	uncertain significance
rs111624130	14:74,525,525	C/T	—	likely benign
rs922749897	14:74,525,586	G/A	—	uncertain significance
rs12147048	14:74,525,690	G/A	—	uncertain significance
rs112962625	14:74,525,722	G/A	—	benign
rs550384718	14:74,525,743	C/T	—	uncertain significance
rs1001370504	14:74,525,744	G/A	—	uncertain significance
rs1047039253	14:74,525,811	C/T	—	uncertain significance
rs115564279	14:74,525,831	T/C	—	benign
rs2060285999	14:74,525,918	T/C	—	uncertain significance
rs2060286462	14:74,525,959	T/C	—	uncertain significance
rs186963818	14:74,525,978	T/C	—	uncertain significance
rs533760077	14:74,526,137	G/A	—	uncertain significance
rs150649694	14:74,526,164	C/T	—	benign
rs4646866	14:74,526,188	C/G	—	benign
rs4646865	14:74,526,197	G/A	—	benign
rs918680042	14:74,526,295	G/C	—	uncertain significance
rs146306002	14:74,526,313	G/A	—	benign
rs139735554	14:74,526,329	C/T	—	benign
rs144507608	14:74,526,330	G/A	—	benign
rs181399266	14:74,526,334	G/T	—	uncertain significance
rs146605362	14:74,526,339	G/A	—	benign
rs945903840	14:74,526,354	C/T	—	uncertain significance
rs148780249	14:74,526,365	T/C	—	benign
rs765576515	14:74,526,506	A/C	—	uncertain significance
rs4646864	14:74,526,703	G/A	—	benign
rs113031892	14:74,526,746	G/C	—	likely benign
rs75199385	14:74,526,778	G/A	—	likely benign
rs1050633882	14:74,526,787	T/C	—	uncertain significance
rs77324906	14:74,526,851	T/A	—	benign
rs1135886	14:74,526,912	G/A	—	likely benign
rs1135885	14:74,526,942	A/G	—	benign
rs886050729	14:74,526,968	G/T	—	uncertain significance
rs150950908	14:74,527,036	C/T	—	likely benign
rs117311919	14:74,527,111	G/A	—	uncertain significance
rs8204	14:74,527,190	A/G	—	benign
rs8017248	14:74,527,203	A/G	—	benign
rs2060316331	14:74,527,248	A/G	—	uncertain significance
rs545399557	14:74,527,302	G/C	—	uncertain significance
rs183066442	14:74,527,349	C/T	—	benign
rs367863044	14:74,527,350	G/A	missense variant	pathogenic
rs1462444890	14:74,527,421	G/T	—	uncertain significance
rs10140252	14:74,528,023	G/T	intron variant	—
rs936855445	14:74,531,540	A/G	—	likely benign
rs142529714	14:74,531,545	T/C	—	uncertain significance
rs886050730	14:74,531,549	T/C	—	conflicting classifications of pathogenicity
rs768056520	14:74,531,550	C/A	—	uncertain significance
rs2060433749	14:74,531,559	G/T	—	uncertain significance
rs1410668144	14:74,531,566	G/A	—	uncertain significance
rs368853422	14:74,531,572	C/T	—	uncertain significance
rs147004133	14:74,531,573	G/A	—	benign
rs765240677	14:74,531,585	C/T	—	uncertain significance
rs2504560223	14:74,531,626	A/G	—	uncertain significance
rs1428331789	14:74,531,629	A/G	—	likely benign
rs781755957	14:74,531,634	A/G	—	likely benign
rs376470740	14:74,531,641	C/T	—	likely benign
rs747566637	14:74,531,888	C/T	—	uncertain significance
rs764356053	14:74,531,891	A/G	—	uncertain significance
rs2060440865	14:74,531,902	G/C	—	uncertain significance
rs369223978	14:74,531,915	C/T	—	uncertain significance
rs756621510	14:74,531,916	G/A	—	uncertain significance
rs757981230	14:74,531,930	T/C	—	uncertain significance
rs971445377	14:74,531,938	G/A	—	likely benign
rs72552258	14:74,531,952	C/T	missense variant	pathogenic
rs746669140	14:74,531,965	G/A	—	likely benign
rs1037162967	14:74,531,981	T/C	—	uncertain significance
rs1172766971	14:74,531,984	A/G	—	uncertain significance
rs775391997	14:74,532,027	G/A	—	pathogenic
rs1234042813	14:74,532,067	C/T	—	likely benign
rs756896845	14:74,533,411	G/C	—	uncertain significance
rs2060473552	14:74,533,484	A/C	—	uncertain significance
rs751076261	14:74,533,516	A/G	—	likely benign
rs2060474193	14:74,533,526	T/C	—	uncertain significance
rs1243224225	14:74,533,539	C/T	—	uncertain significance
rs1375079790	14:74,534,071	G/A	—	likely benign
rs2504582575	14:74,534,075	T/C	—	likely benign
rs1280262132	14:74,534,103	T/C	—	uncertain significance
rs545522891	14:74,534,112	T/G	—	uncertain significance
rs1595118923	14:74,534,128	G/A	—	likely benign
rs1415314155	14:74,534,173	T/C	—	uncertain significance
rs764477811	14:74,534,177	G/A	—	likely benign
rs766085131	14:74,534,183	A/T	—	likely benign
rs753490626	14:74,534,186	A/G	—	likely benign

Showing 100 of 191 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.