IMPDH1

inosine monophosphate dehydrogenase 1

Summary

The protein encoded by this gene acts as a homotetramer to regulate cell growth. The encoded protein is an enzyme that catalyzes the synthesis of xanthine monophosphate (XMP) from inosine-5'-monophosphate (IMP). This is the rate-limiting step in the de novo synthesis of guanine nucleotides. Defects in this gene are a cause of retinitis pigmentosa type 10 (RP10). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

Known Variants530 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs183121204	7:128,032,328	G/A	—	likely benign
rs886061980	7:128,032,339	G/A	—	uncertain significance
rs186714165	7:128,032,340	C/T	—	uncertain significance
rs1179467429	7:128,032,367	G/T	—	uncertain significance
rs574318258	7:128,032,419	C/T	—	uncertain significance
rs1803822	7:128,032,427	G/A	—	benign
rs760544024	7:128,032,430	G/A	—	uncertain significance
rs11549800	7:128,032,448	A/G	—	uncertain significance
rs1803821	7:128,032,464	C/T	—	benign
rs142941122	7:128,032,517	C/T	—	likely benign
rs530960760	7:128,032,651	C/T	—	uncertain significance
rs571536404	7:128,032,740	C/A	—	uncertain significance
rs72624977	7:128,032,785	G/A	—	likely benign
rs535964010	7:128,032,802	C/T	—	uncertain significance
rs886061981	7:128,032,803	G/A	—	uncertain significance
rs752294619	7:128,032,805	A/G	—	uncertain significance
rs1042267	7:128,032,830	G/C	—	uncertain significance
rs72624976	7:128,032,833	C/T	—	likely benign
rs543042380	7:128,032,838	G/C	—	conflicting classifications of pathogenicity
rs886061982	7:128,032,859	G/A	—	uncertain significance
rs72624974	7:128,032,865	G/A	—	conflicting classifications of pathogenicity
rs531478376	7:128,032,893	C/T	—	uncertain significance
rs72624973	7:128,032,924	C/G	—	uncertain significance
rs1797626715	7:128,032,931	T/C	—	uncertain significance
rs886061983	7:128,032,956	A/T	—	uncertain significance
rs541712803	7:128,032,959	C/A	—	uncertain significance
rs747314543	7:128,033,061	T/C	—	uncertain significance
rs2116574105	7:128,033,065	T/G	—	uncertain significance
rs559687529	7:128,033,071	C/T	—	uncertain significance
rs530357590	7:128,033,072	G/A	—	uncertain significance
rs748893918	7:128,033,078	C/T	—	uncertain significance
rs368622318	7:128,033,079	G/T	—	uncertain significance
rs1797639332	7:128,033,083	C/A	—	uncertain significance
rs761367230	7:128,033,085	G/A	—	likely benign
rs773237126	7:128,033,092	C/G	—	likely benign
rs2535716767	7:128,033,099	A/C	—	likely benign
rs1225530903	7:128,034,315	G/A	—	likely benign
rs1797745177	7:128,034,327	C/T	—	uncertain significance
rs771566805	7:128,034,329	T/C	—	uncertain significance
rs772619634	7:128,034,331	C/T	—	uncertain significance
rs760603000	7:128,034,332	G/A	—	uncertain significance
rs1248866452	7:128,034,340	G/A	—	likely benign
rs776562088	7:128,034,343	A/G	—	likely benign
rs1191029159	7:128,034,344	T/C	—	uncertain significance
rs2116591776	7:128,034,364	G/A	—	likely benign
rs765536215	7:128,034,367	C/T	—	likely benign
rs777660613	7:128,034,368	G/A	—	uncertain significance
rs1159524621	7:128,034,373	G/A	—	likely benign
rs564606103	7:128,034,378	G/A	—	uncertain significance
rs1797751525	7:128,034,380	T/C	—	uncertain significance
rs751607766	7:128,034,388	C/T	—	likely benign
rs962883530	7:128,034,391	G/C	—	likely benign
rs150628823	7:128,034,396	C/G	—	uncertain significance
rs2535724488	7:128,034,399	C/T	—	uncertain significance
rs886061984	7:128,034,406	C/T	—	uncertain significance
rs756507351	7:128,034,409	C/T	—	uncertain significance
rs1185999609	7:128,034,420	G/A	—	likely benign
rs1488952195	7:128,034,422	G/C	—	likely benign
rs1797754885	7:128,034,426	G/A	—	uncertain significance
rs2535724860	7:128,034,433	G/A	—	likely benign
rs747748998	7:128,034,434	G/A	—	likely benign
rs374288001	7:128,034,494	C/T	—	benign
rs377662306	7:128,034,501	A/G	—	likely benign
rs1196131691	7:128,034,503	C/T	—	likely benign
rs1797764430	7:128,034,510	C/T	—	uncertain significance
rs1797765235	7:128,034,527	G/T	—	likely benign
rs754158159	7:128,034,528	C/T	—	uncertain significance
rs777346676	7:128,034,529	G/A	—	uncertain significance
rs201803921	7:128,034,536	G/A	—	conflicting classifications of pathogenicity
rs139785999	7:128,034,542	C/T	—	conflicting classifications of pathogenicity
rs149762411	7:128,034,550	C/T	—	uncertain significance
rs147882304	7:128,034,551	G/A	—	conflicting classifications of pathogenicity
rs546532618	7:128,034,554	T/C	—	benign
rs1312955440	7:128,034,562	C/T	—	uncertain significance
rs1797768699	7:128,034,565	C/T	—	uncertain significance
rs1797769213	7:128,034,568	T/C	—	uncertain significance
rs767533140	7:128,034,578	C/G	—	likely benign
rs749416988	7:128,034,581	G/A	—	conflicting classifications of pathogenicity
rs2535726109	7:128,034,586	T/C	—	uncertain significance
rs2535726142	7:128,034,592	T/C	—	uncertain significance
rs1797771457	7:128,034,599	T/C	—	likely benign
rs141572081	7:128,034,601	T/C	—	uncertain significance
rs144498273	7:128,034,606	T/C	—	conflicting classifications of pathogenicity
rs756992593	7:128,034,615	C/T	—	uncertain significance
rs143391643	7:128,034,618	G/A	—	uncertain significance
rs745379133	7:128,034,620	G/A	—	likely benign
rs2116595584	7:128,034,622	C/A	—	uncertain significance
rs756119385	7:128,034,623	A/G	—	likely benign
rs2228075	7:128,034,629	C/T	synonymous variant	benign
rs576852864	7:128,034,630	G/A	—	uncertain significance
rs367951647	7:128,034,631	C/T	—	uncertain significance
rs267601273	7:128,034,632	G/C	—	uncertain significance
rs1797775957	7:128,034,638	C/T	—	likely benign
rs992154664	7:128,034,643	T/C	—	uncertain significance
rs899480714	7:128,034,645	T/G	—	uncertain significance
rs148875137	7:128,034,653	G/A	—	conflicting classifications of pathogenicity
rs376431130	7:128,034,657	C/A	—	likely benign
rs370558710	7:128,034,658	G/T	—	uncertain significance
rs767349860	7:128,034,666	T/C	—	likely benign
rs2116596429	7:128,034,668	G/C	—	likely benign

Showing 100 of 530 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.