AHCY

adenosylhomocysteinase

Summary

S-adenosylhomocysteine hydrolase belongs to the adenosylhomocysteinase family. It catalyzes the reversible hydrolysis of S-adenosylhomocysteine (AdoHcy) to adenosine (Ado) and L-homocysteine (Hcy). Thus, it regulates the intracellular S-adenosylhomocysteine (SAH) concentration thought to be important for transmethylation reactions. Deficiency in this protein is one of the different causes of hypermethioninemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]

Known Variants252 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs6058017	20:32,856,998	A/G	regulatory region variant	association
rs819171	20:32,867,984	C/T	intron variant	—
rs4239	20:32,868,161	T/A	—	benign
rs371150068	20:32,868,162	G/A	—	uncertain significance
rs886056634	20:32,868,219	A/G	—	uncertain significance
rs552690185	20:32,868,257	C/G	—	uncertain significance
rs574438360	20:32,868,413	A/G	—	uncertain significance
rs2035968636	20:32,868,423	T/A	—	uncertain significance
rs13245	20:32,868,539	A/C	—	benign
rs759056638	20:32,868,659	G/A	—	uncertain significance
rs2035978307	20:32,868,728	C/T	—	uncertain significance
rs1395290005	20:32,868,843	G/C	—	uncertain significance
rs1332079549	20:32,868,847	C/T	—	uncertain significance
rs2035983583	20:32,868,857	C/T	—	uncertain significance
rs377090568	20:32,868,859	G/A	—	uncertain significance
rs1555830638	20:32,868,866	A/C	—	uncertain significance
rs142689206	20:32,868,878	A/G	—	likely benign
rs756185456	20:32,868,903	C/T	—	likely benign
rs1194152113	20:32,868,911	T/A	—	uncertain significance
rs373929711	20:32,868,916	T/C	—	uncertain significance
rs2515129016	20:32,868,924	C/T	—	likely benign
rs147385277	20:32,868,929	C/T	—	uncertain significance
rs202122223	20:32,868,949	G/A	—	uncertain significance
rs886056635	20:32,868,951	T/A	—	uncertain significance
rs886056636	20:32,868,969	C/T	—	uncertain significance
rs1205748381	20:32,868,976	G/A	—	conflicting classifications of pathogenicity
rs2122711427	20:32,868,980	A/G	—	likely benign
rs60143059	20:32,868,985	A/G	—	benign
rs776065604	20:32,868,987	G/A	—	likely benign
rs17091693	20:32,869,035	G/C	—	benign
rs1229673205	20:32,873,231	G/T	—	uncertain significance
rs777321528	20:32,873,253	G/A	—	uncertain significance
rs759021534	20:32,873,271	A/G	—	uncertain significance
rs764698901	20:32,873,273	G/A	—	likely benign
rs774872458	20:32,873,279	C/G	—	uncertain significance
rs762260983	20:32,873,280	T/C	—	uncertain significance
rs1601643158	20:32,873,289	T/C	—	uncertain significance
rs779095461	20:32,873,299	G/A	—	likely benign
rs138006791	20:32,873,303	G/A	—	likely benign
rs777626341	20:32,873,309	C/T	—	likely benign
rs746842495	20:32,873,310	G/A	—	uncertain significance
rs937156772	20:32,873,317	C/T	—	uncertain significance
rs1255786356	20:32,873,324	G/A	—	likely benign
rs2515150045	20:32,873,327	G/A	—	likely benign
rs747508381	20:32,873,345	G/A	—	likely benign
rs371576288	20:32,873,351	G/A	—	likely benign
rs560691428	20:32,873,368	A/T	—	uncertain significance
rs1317261970	20:32,873,384	C/A	—	likely benign
rs1057522470	20:32,873,388	C/A	—	uncertain significance
rs372649332	20:32,873,393	G/A	—	likely benign
rs1205008917	20:32,873,394	G/C	—	uncertain significance
rs373915089	20:32,873,398	G/A	—	likely benign
rs771507250	20:32,873,404	T/C	—	uncertain significance
rs139344907	20:32,873,405	G/A	—	conflicting classifications of pathogenicity
rs867752341	20:32,873,409	C/T	—	uncertain significance
rs565486330	20:32,873,410	G/A	—	likely benign
rs201871637	20:32,873,412	C/T	—	conflicting classifications of pathogenicity
rs150066229	20:32,873,413	G/A	—	uncertain significance
rs1385977618	20:32,873,426	C/T	—	likely benign
rs116262714	20:32,873,427	C/T	—	uncertain significance
rs530155117	20:32,873,428	G/A	—	uncertain significance
rs748855369	20:32,873,431	A/C	—	conflicting classifications of pathogenicity
rs1338041155	20:32,873,432	C/T	—	likely benign
rs371784986	20:32,873,433	C/T	—	uncertain significance
rs144383493	20:32,873,434	G/A	—	uncertain significance
rs771220780	20:32,873,446	C/T	—	likely benign
rs17091705	20:32,873,447	G/A	—	benign
rs759839384	20:32,873,450	G/A	—	likely benign
rs1205467878	20:32,873,457	C/A	—	likely benign
rs34602355	20:32,873,594	C/T	—	benign
rs819134	20:32,873,619	G/A	intron variant	benign
rs114007946	20:32,877,995	G/A	—	benign
rs372880260	20:32,878,125	G/A	—	likely benign
rs746288986	20:32,878,141	C/T	—	likely benign
rs1601655907	20:32,878,144	C/T	—	likely benign
rs1471342033	20:32,878,147	G/T	—	likely benign
rs6088457	20:32,878,156	C/T	—	likely benign
rs140039996	20:32,878,164	C/T	—	uncertain significance
rs368716358	20:32,878,165	G/A	—	likely benign
rs761797188	20:32,878,167	C/T	—	uncertain significance
rs767550579	20:32,878,168	G/A	—	likely benign
rs2515172211	20:32,878,169	T/C	—	uncertain significance
rs113285976	20:32,878,173	C/T	—	uncertain significance
rs528770765	20:32,878,174	G/A	—	conflicting classifications of pathogenicity
rs1227037200	20:32,878,186	G/C	—	likely benign
rs146829385	20:32,878,192	G/A	—	conflicting classifications of pathogenicity
rs567858986	20:32,878,200	C/A	—	uncertain significance
rs2515172679	20:32,878,227	T/C	—	uncertain significance
rs376464023	20:32,878,228	G/C	—	conflicting classifications of pathogenicity
rs1234006772	20:32,878,235	T/C	—	uncertain significance
rs370059571	20:32,878,263	G/A	—	conflicting classifications of pathogenicity
rs1168272449	20:32,878,264	C/G	—	likely benign
rs376666148	20:32,878,339	C/T	—	likely benign
rs2515173417	20:32,878,340	C/T	—	likely benign
rs773218933	20:32,878,357	C/T	—	uncertain significance
rs116846245	20:32,878,358	G/A	—	conflicting classifications of pathogenicity
rs1295663875	20:32,878,370	T/C	—	uncertain significance
rs142847412	20:32,878,375	A/T	—	uncertain significance
rs764906515	20:32,878,380	G/C	—	likely benign
rs1204593211	20:32,878,386	G/A	—	likely benign

Showing 100 of 252 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.