ITPA

inosine triphosphatase

Summary

This gene encodes an inosine triphosphate pyrophosphohydrolase. The encoded protein hydrolyzes inosine triphosphate and deoxyinosine triphosphate to the monophosphate nucleotide and diphosphate. This protein, which is a member of the HAM1 NTPase protein family, is found in the cytoplasm and acts as a homodimer. Defects in the encoded protein can result in inosine triphosphate pyrophosphorylase deficiency which causes an accumulation of ITP in red blood cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]

Known Variants248 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs11697186	20:3,185,123	A/T	regulatory region variant	—
rs183345415	20:3,186,466	C/T	upstream gene variant	—
rs6139030	20:3,187,733	T/C	upstream gene variant	—
rs6139031	20:3,189,982	G/A	—	benign
rs45620433	20:3,190,039	C/G	—	benign
rs148477247	20:3,190,085	C/T	—	benign
rs776199615	20:3,190,198	A/G	—	uncertain significance
rs150370229	20:3,190,202	C/A	—	uncertain significance
rs774967345	20:3,190,203	G/T	—	likely benign
rs1465161090	20:3,190,206	C/T	—	likely benign
rs762598981	20:3,190,210	T/C	—	likely benign
rs767397739	20:3,190,231	T/C	—	uncertain significance
rs1257840478	20:3,190,239	G/C	—	likely benign
rs2122274205	20:3,190,245	C/T	—	likely benign
rs754960642	20:3,190,246	G/T	—	likely benign
rs758704128	20:3,190,255	C/A	—	uncertain significance
rs1413585093	20:3,190,263	G/A	—	uncertain significance
rs1346504214	20:3,190,266	G/C	—	uncertain significance
rs367746086	20:3,190,268	C/T	—	uncertain significance
rs989558409	20:3,190,271	G/T	—	uncertain significance
rs2067125837	20:3,190,273	G/A	—	likely benign
rs2514405028	20:3,190,278	T/C	—	likely benign
rs2514405043	20:3,190,279	T/G	—	likely benign
rs776956059	20:3,190,280	G/A	—	likely benign
rs1467169385	20:3,190,281	G/A	—	likely benign
rs6084306	20:3,193,617	G/A	—	benign
rs75402132	20:3,193,674	G/A	—	benign
rs78089909	20:3,193,687	C/T	—	benign
rs11087570	20:3,193,732	G/A	—	benign
rs758688131	20:3,193,796	C/T	—	likely benign
rs1352400849	20:3,193,806	T/C	—	likely benign
rs2514423508	20:3,193,813	A/G	—	likely pathogenic
rs983098781	20:3,193,815	G/A	—	uncertain significance
rs757523885	20:3,193,817	C/T	—	likely benign
rs777033296	20:3,193,818	G/A	—	uncertain significance
rs2514423602	20:3,193,821	C/T	—	pathogenic
rs555480105	20:3,193,841	T/C	—	likely benign
rs1127354	20:3,193,842	C/A	missense variant	drug response
rs144682597	20:3,193,844	A/G	—	likely benign
rs2122318173	20:3,193,847	C/T	—	likely benign
rs199769023	20:3,193,848	A/G	—	uncertain significance
rs773947334	20:3,193,849	C/A	—	uncertain significance
rs761555605	20:3,193,851	T/C	—	likely benign
rs1476134616	20:3,193,854	G/A	—	uncertain significance
rs2514423982	20:3,193,857	G/A	—	uncertain significance
rs773069391	20:3,193,858	C/T	—	uncertain significance
rs2514424030	20:3,193,861	A/G	—	uncertain significance
rs538432614	20:3,193,865	A/C	—	uncertain significance
rs142574480	20:3,193,872	C/T	—	likely benign
rs376142053	20:3,193,873	G/A	—	pathogenic
rs1408254396	20:3,193,874	T/C	—	pathogenic
rs368434084	20:3,193,877	G/A	—	uncertain significance
rs113777460	20:3,193,879	C/T	—	likely benign
rs545393698	20:3,193,883	G/C	—	likely benign
rs200947572	20:3,193,885	T/C	—	likely benign
rs2067214114	20:3,193,892	T/C	—	likely benign
rs7270101	20:3,193,893	A/C	intron variant	drug response
rs200506201	20:3,193,940	T/C	—	likely benign
rs761938281	20:3,193,948	T/A	—	likely benign
rs767824484	20:3,193,949	C/G	—	likely benign
rs374874902	20:3,193,953	T/G	—	likely benign
rs2514424880	20:3,193,957	C/G	—	likely benign
rs1433689808	20:3,193,960	A/G	—	uncertain significance
rs780431801	20:3,193,965	T/C	—	uncertain significance
rs1555773611	20:3,193,966	G/A	—	likely benign
rs142979373	20:3,193,968	C/T	—	uncertain significance
rs146112146	20:3,193,969	G/T	—	likely benign
rs2122320741	20:3,193,975	C/T	—	likely benign
rs2122320860	20:3,193,977	A/G	—	uncertain significance
rs8362	20:3,193,978	A/G	—	benign
rs2514425313	20:3,193,982	G/T	—	pathogenic
rs757955055	20:3,193,986	C/T	—	uncertain significance
rs777528511	20:3,193,987	G/A	—	likely benign
rs746662660	20:3,193,991	G/A	—	uncertain significance
rs1401764767	20:3,193,995	T/C	—	uncertain significance
rs2514425487	20:3,193,996	T/A	—	likely benign
rs939381685	20:3,193,999	C/T	—	likely benign
rs770808787	20:3,194,000	A/G	—	uncertain significance
rs2514425581	20:3,194,002	A/T	—	likely benign
rs1555773628	20:3,194,005	G/C	—	uncertain significance
rs138760860	20:3,194,010	G/A	—	uncertain significance
rs2514425693	20:3,194,015	G/C	—	uncertain significance
rs1368986252	20:3,194,021	G/T	—	uncertain significance
rs201119006	20:3,194,024	C/T	—	uncertain significance
rs773447998	20:3,194,033	C/G	—	uncertain significance
rs2514425897	20:3,194,037	C/T	—	likely benign
rs2122321773	20:3,194,039	C/T	—	likely benign
rs369860957	20:3,194,040	T/G	—	likely benign
rs2122321833	20:3,194,041	G/T	—	likely benign
rs67002563	20:3,194,173	G/A	intron variant	benign
rs115212870	20:3,194,441	C/T	—	benign
rs1214254368	20:3,194,619	T/G	—	uncertain significance
rs1600504484	20:3,194,624	G/A	—	likely benign
rs772126824	20:3,194,628	C/A	—	uncertain significance
rs2122328391	20:3,194,629	A/T	—	likely pathogenic
rs760868571	20:3,194,631	G/T	—	uncertain significance
rs1249748074	20:3,194,633	A/G	—	likely benign
rs897569949	20:3,194,636	G/A	—	likely benign
rs1166191164	20:3,194,639	G/A	—	likely benign
rs766652238	20:3,194,640	C/A	—	uncertain significance

Showing 100 of 248 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.