APRT

adenine phosphoribosyltransferase

Summary

Adenine phosphoribosyltransferase belongs to the purine/pyrimidine phosphoribosyltransferase family. A conserved feature of this gene is the distribution of CpG dinucleotides. This enzyme catalyzes the formation of AMP and inorganic pyrophosphate from adenine and 5-phosphoribosyl-1-pyrophosphate (PRPP). It also produces adenine as a by-product of the polyamine biosynthesis pathway. A homozygous deficiency in this enzyme causes 2,8-dihydroxyadenine urolithiasis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Known Variants112 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs8191504	16:88,875,705	G/A	—	likely benign
rs8191503	16:88,875,722	T/G	—	likely benign
rs8191499	16:88,875,837	G/T	—	benign
rs1184700495	16:88,875,896	T/C	—	uncertain significance
rs4695	16:88,875,928	T/G	—	likely benign
rs137965502	16:88,875,954	G/A	—	uncertain significance
rs769271336	16:88,875,984	G/A	—	uncertain significance
rs748634790	16:88,876,023	C/T	—	uncertain significance
rs1909032484	16:88,876,106	T/A	—	pathogenic
rs387906584	16:88,876,107	C/G	stop lost	pathogenic
rs758634272	16:88,876,108	A/G	—	likely pathogenic
rs1165408563	16:88,876,117	G/A	—	pathogenic
rs565636938	16:88,876,120	G/A	—	likely benign
rs1909033869	16:88,876,123	G/A	—	pathogenic
rs1186881962	16:88,876,125	G/A	—	likely pathogenic
rs781239221	16:88,876,135	G/C	—	uncertain significance
rs768425517	16:88,876,158	C/T	—	conflicting classifications of pathogenicity
rs766909450	16:88,876,167	G/A	—	uncertain significance
rs2508229058	16:88,876,176	T/C	—	uncertain significance
rs141669365	16:88,876,189	C/T	—	uncertain significance
rs375131814	16:88,876,190	G/A	—	likely benign
rs764321075	16:88,876,192	A/G	—	pathogenic
rs281860266	16:88,876,201	C/A	missense variant	pathogenic
rs1909039417	16:88,876,207	C/T	—	uncertain significance
rs745872435	16:88,876,210	G/A	—	likely pathogenic
rs550667813	16:88,876,216	G/T	—	uncertain significance
rs1909040577	16:88,876,221	A/G	—	pathogenic
rs142472789	16:88,876,238	G/A	—	conflicting classifications of pathogenicity
rs28999113	16:88,876,242	A/G	missense variant	pathogenic
rs772611737	16:88,876,243	T/C	—	uncertain significance
rs1449537193	16:88,876,263	G/A	—	uncertain significance
rs2508231291	16:88,876,460	C/T	—	likely benign
rs368883030	16:88,876,463	C/T	—	likely benign
rs373048958	16:88,876,464	G/A	—	likely benign
rs753976270	16:88,876,472	C/T	—	uncertain significance
rs1909055310	16:88,876,475	T/A	—	pathogenic
rs1317695590	16:88,876,477	C/A	—	pathogenic
rs1909055807	16:88,876,480	C/T	—	pathogenic
rs1909056519	16:88,876,489	A/G	—	likely pathogenic
rs376129456	16:88,876,493	G/A	—	likely benign
rs1909057323	16:88,876,498	T/C	—	pathogenic
rs75205792	16:88,876,502	C/A	—	uncertain significance
rs763991694	16:88,876,503	G/A	—	likely benign
rs376629164	16:88,876,505	C/T	—	uncertain significance
rs1909057938	16:88,876,507	A/C	—	pathogenic
rs755599871	16:88,876,511	C/G	—	uncertain significance
rs35095508	16:88,876,514	T/G	—	conflicting classifications of pathogenicity
rs8191494	16:88,876,516	T/C	—	likely benign
rs776948275	16:88,876,519	C/A	—	pathogenic
rs528515938	16:88,876,524	C/T	—	likely benign
rs370665100	16:88,876,526	C/G	—	uncertain significance
rs775353984	16:88,876,531	G/A	—	uncertain significance
rs201944035	16:88,876,532	C/T	—	conflicting classifications of pathogenicity
rs767177754	16:88,876,544	T/A	—	conflicting classifications of pathogenicity
rs104894508	16:88,876,549	A/G	missense variant	pathogenic
rs376141412	16:88,876,571	G/C	—	likely benign
rs8191492	16:88,876,620	G/C	—	benign
rs8191489	16:88,876,666	C/G	—	benign
rs866574320	16:88,876,814	C/T	—	likely benign
rs2142952237	16:88,876,824	C/T	—	likely benign
rs368062984	16:88,876,831	C/T	—	uncertain significance
rs780098835	16:88,876,836	C/T	—	uncertain significance
rs1909078308	16:88,876,841	T/C	—	pathogenic
rs2142952273	16:88,876,842	C/A	—	pathogenic
rs104894507	16:88,876,858	C/T	stop gained	pathogenic
rs281860264	16:88,876,859	C/T	stop gained	pathogenic
rs1909079702	16:88,876,860	A/G	—	uncertain significance
rs563575862	16:88,876,864	A/G	—	likely benign
rs372253865	16:88,876,876	C/T	—	conflicting classifications of pathogenicity
rs200417820	16:88,876,882	C/T	—	likely benign
rs150156607	16:88,876,886	C/T	—	likely benign
rs138781159	16:88,876,888	C/A	—	pathogenic
rs3169258	16:88,876,893	G/A	—	pathogenic
rs200392753	16:88,876,902	C/T	—	uncertain significance
rs1182857791	16:88,876,920	C/T	—	uncertain significance
rs1909088511	16:88,876,925	G/A	—	pathogenic
rs377050219	16:88,876,936	G/T	—	conflicting classifications of pathogenicity
rs762509151	16:88,876,952	C/T	—	likely pathogenic
rs369681854	16:88,876,953	G/A	—	pathogenic
rs104894506	16:88,876,958	T/A	missense variant	pathogenic
rs1909091672	16:88,876,964	C/T	—	likely pathogenic
rs766646831	16:88,876,967	G/C	—	pathogenic
rs8191487	16:88,877,004	A/G	—	benign
rs3214057	16:88,877,124	A/G	—	benign
rs8191484	16:88,877,228	C/T	—	likely benign
rs2242173	16:88,877,929	C/G	—	benign
rs759835192	16:88,877,940	C/G	—	likely benign
rs201579274	16:88,877,960	G/A	—	benign
rs748942141	16:88,877,964	T/C	—	uncertain significance
rs768268700	16:88,877,970	C/T	—	uncertain significance
rs145490332	16:88,877,983	G/A	—	likely benign
rs752977102	16:88,877,985	G/C	—	conflicting classifications of pathogenicity
rs200598967	16:88,878,010	G/C	—	likely benign
rs2142954409	16:88,878,018	T/G	—	uncertain significance
rs1909144433	16:88,878,026	C/G	—	pathogenic
rs1909145695	16:88,878,047	A/G	—	pathogenic
rs149476467	16:88,878,053	G/A	—	uncertain significance
rs1344826245	16:88,878,061	G/T	—	likely pathogenic
rs1909147057	16:88,878,063	C/G	—	pathogenic
rs751779314	16:88,878,066	T/C	—	likely pathogenic

Showing 100 of 112 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.