PNPT1

polyribonucleotide nucleotidyltransferase 1

Summary

The protein encoded by this gene belongs to the evolutionary conserved polynucleotide phosphorylase family comprised of phosphate dependent 3'-to-5' exoribonucleases implicated in RNA processing and degradation. This enzyme is predominantly localized in the mitochondrial intermembrane space and is involved in import of RNA to mitochondria. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency-13 and autosomal recessive nonsyndromic deafness-70. Related pseudogenes are found on chromosomes 3 and 7. [provided by RefSeq, Dec 2012]

Known Variants698 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs568249156	2:55,863,213	A/T	—	likely benign
rs72930820	2:55,863,301	A/G	—	benign
rs1256655826	2:55,863,373	C/A	—	uncertain significance
rs2529454450	2:55,863,375	C/T	—	likely benign
rs1051308974	2:55,863,379	G/C	—	uncertain significance
rs201880461	2:55,863,388	G/A	—	uncertain significance
rs201498158	2:55,863,389	A/G	—	uncertain significance
rs768892122	2:55,863,390	T/C	—	likely benign
rs774365432	2:55,863,403	G/A	—	uncertain significance
rs566113211	2:55,863,421	C/A	—	uncertain significance
rs375464915	2:55,863,423	A/G	—	likely benign
rs146977004	2:55,863,431	C/T	—	uncertain significance
rs376543538	2:55,863,433	T/C	—	uncertain significance
rs1340851603	2:55,863,446	C/G	—	uncertain significance
rs145553870	2:55,863,449	C/T	—	uncertain significance
rs751043523	2:55,863,450	G/A	—	likely benign
rs2529454953	2:55,863,452	T/G	—	uncertain significance
rs1695672029	2:55,863,453	T/G	—	likely benign
rs756689143	2:55,863,463	G/A	—	uncertain significance
rs1572789693	2:55,863,465	C/A	—	uncertain significance
rs781141054	2:55,863,471	C/T	—	likely benign
rs2529455067	2:55,863,479	G/T	—	likely benign
rs1425696642	2:55,863,490	A/G	—	uncertain significance
rs1695673324	2:55,863,493	C/T	—	uncertain significance
rs187750584	2:55,863,500	C/T	—	uncertain significance
rs779141193	2:55,863,501	G/A	—	likely benign
rs574670461	2:55,863,511	C/T	—	conflicting classifications of pathogenicity
rs1033071660	2:55,863,512	G/A	—	uncertain significance
rs374166754	2:55,863,517	A/C	—	uncertain significance
rs771462142	2:55,863,545	A/C	—	likely benign
rs57254503	2:55,863,562	C/G	—	likely benign
rs113275808	2:55,863,589	T/C	—	likely benign
rs141410243	2:55,864,403	C/T	—	likely benign
rs754737888	2:55,864,671	G/A	—	likely benign
rs2529458860	2:55,864,675	G/A	—	likely benign
rs970338196	2:55,864,681	A/G	—	uncertain significance
rs1228800641	2:55,864,695	C/T	—	uncertain significance
rs775812797	2:55,864,702	A/G	—	likely benign
rs983072995	2:55,864,717	G/A	—	likely benign
rs1695714326	2:55,864,733	A/G	—	uncertain significance
rs761493792	2:55,864,739	A/G	—	likely benign
rs138300494	2:55,864,745	A/C	—	likely benign
rs372630803	2:55,864,748	T/A	—	likely benign
rs142979302	2:55,864,752	A/T	—	likely benign
rs370060385	2:55,864,753	A/G	—	likely benign
rs112812946	2:55,865,038	G/T	—	benign
rs368198928	2:55,867,742	A/G	—	likely benign
rs772789040	2:55,867,743	A/G	—	likely benign
rs371761857	2:55,867,746	A/C	—	likely benign
rs1381994940	2:55,867,748	A/G	—	likely benign
rs543287562	2:55,867,754	C/G	—	likely benign
rs374690825	2:55,867,756	T/A	—	uncertain significance
rs1318691269	2:55,867,763	T/C	—	uncertain significance
rs765249456	2:55,867,766	C/T	—	uncertain significance
rs752550279	2:55,867,773	C/A	—	pathogenic
rs2529468579	2:55,867,774	A/G	—	likely benign
rs758199841	2:55,867,777	T/C	—	likely benign
rs2529468609	2:55,867,779	G/A	—	pathogenic
rs367694300	2:55,867,781	G/A	—	uncertain significance
rs145069656	2:55,867,798	C/T	—	likely benign
rs148804101	2:55,867,804	C/G	—	uncertain significance
rs2529468701	2:55,867,805	A/G	—	uncertain significance
rs1012368621	2:55,867,835	G/A	—	uncertain significance
rs2529468836	2:55,867,838	T/G	—	uncertain significance
rs145739483	2:55,867,845	A/G	—	likely benign
rs1276550634	2:55,867,855	A/G	—	likely benign
rs768971285	2:55,867,856	T/G	—	likely benign
rs34679603	2:55,867,938	A/G	—	benign
rs762164126	2:55,870,274	G/A	—	likely benign
rs2104026165	2:55,870,290	T/C	—	pathogenic
rs2529476670	2:55,870,295	G/A	—	uncertain significance
rs780574835	2:55,870,298	T/A	—	uncertain significance
rs1572795877	2:55,870,304	T/G	—	likely benign
rs767608725	2:55,870,312	C/T	missense variant	—
rs376094443	2:55,870,313	G/A	—	likely benign
rs2529476726	2:55,870,314	G/A	—	uncertain significance
rs544405485	2:55,870,319	T/C	—	likely benign
rs1402295663	2:55,870,323	G/A	—	uncertain significance
rs2529476843	2:55,870,348	G/A	—	pathogenic
rs1321427758	2:55,870,350	T/C	—	likely pathogenic
rs748445058	2:55,870,351	G/C	—	likely pathogenic
rs770626405	2:55,870,352	T/G	—	likely benign
rs1695888227	2:55,870,357	G/A	—	likely benign
rs2529476905	2:55,870,365	A/C	—	likely benign
rs745401550	2:55,870,367	C/G	—	likely benign
rs2529477242	2:55,870,435	T/G	—	likely benign
rs2529477268	2:55,870,441	G/T	—	likely benign
rs745564474	2:55,870,442	A/T	—	likely benign
rs140561046	2:55,870,454	A/G	—	uncertain significance
rs144252007	2:55,870,455	T/A	—	uncertain significance
rs1006634805	2:55,870,456	C/T	—	uncertain significance
rs1268172388	2:55,870,458	T/C	—	uncertain significance
rs760643019	2:55,870,478	G/C	—	uncertain significance
rs201269381	2:55,870,485	C/T	—	conflicting classifications of pathogenicity
rs145017720	2:55,870,493	A/G	—	likely benign
rs545932442	2:55,870,494	T/C	—	uncertain significance
rs1168592877	2:55,870,495	G/A	—	uncertain significance
rs765801538	2:55,870,507	G/A	—	uncertain significance
rs2529477532	2:55,870,511	T/C	—	likely benign
rs1226004660	2:55,870,522	C/T	—	uncertain significance

Showing 100 of 698 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.